Skocz do pozycji: 1.

Tytuł:

Minocycline for sporadic and hereditary cerebral amyloid angiopathy (BATMAN): study protocol for a placebo-controlled randomized double-blind trial.

Autorzy:

Voigt S; Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands. .; Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands. .
Koemans EA; Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
Rasing I; Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
van Etten ES; Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
Terwindt GM; Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kaushik K; Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
van Es ACGM; Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
van Buchem MA; Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
van Osch MJP; Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
van Walderveen MAA; Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
Klijn CJM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Verbeek MM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
van der Weerd L; Department of Radiology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.
Wermer MJH; Department of Neurology, Leiden University Medical Center, Albinusdreef 2, 2300 RC, Leiden, The Netherlands.

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Źródło:

Trials [Trials] 2023 Jun 05; Vol. 24 (1), pp. 378. Date of Electronic Publication: 2023 Jun 05.

Typ publikacji:

Clinical Trial Protocol; Journal Article

MeSH Terms:

Cerebral Amyloid Angiopathy*/diagnostic imaging
Cerebral Amyloid Angiopathy*/drug therapy
Cerebral Amyloid Angiopathy*/complications
Cerebral Amyloid Angiopathy, Familial*/complications
Cerebral Amyloid Angiopathy, Familial*/pathology
Aged ; Humans ; Amyloid beta-Peptides ; Anti-Bacterial Agents/pharmacology ; Cerebral Hemorrhage/etiology ; Gelatinases ; Inflammation ; Minocycline ; Neuroinflammatory Diseases ; Randomized Controlled Trials as Topic

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 2.

Tytuł:

Development, Characterization, and in vivo Validation of a Humanized C6 Monoclonal Antibody that Inhibits the Membrane Attack Complex.

Autorzy:

Gytz Olesen H; Department of Molecular Biology and Genetics - Protein Science, Aarhus University, Aarhus, Denmark.
Michailidou I; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.
Zelek WM; Division of Infection and Immunity and Dementia Research Institute, Systems Immunity Research Institute, School of Medicine, Cardiff University, Cardiff, UK.
Vreijling J; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.
Ruizendaal P; Core Facility Genomics, Amsterdam UMC, Amsterdam, The Netherlands.
de Klein F; Core Facility Genomics, Amsterdam UMC, Amsterdam, The Netherlands.
Marquart JA; Molecular Hematology, Amsterdam, The Netherlands.
Kuipers TB; Sequencing Analysis Support Core, Department of Biomedical Data Sciences, LUMC, Leiden, The Netherlands.
Mei H; Sequencing Analysis Support Core, Department of Biomedical Data Sciences, LUMC, Leiden, The Netherlands.
Zhang Y; Alexion, AstraZeneca Rare Disease, New Haven, Connecticut, USA.
Ahasan M; Alexion, AstraZeneca Rare Disease, New Haven, Connecticut, USA.
Johnson KK; Alexion, AstraZeneca Rare Disease, New Haven, Connecticut, USA.
Wang Y; Alexion, AstraZeneca Rare Disease, New Haven, Connecticut, USA.
Morgan BP; Division of Infection and Immunity and Dementia Research Institute, Systems Immunity Research Institute, School of Medicine, Cardiff University, Cardiff, UK.
van Dijk M; Complement Pharma BV, Amsterdam, The Netherlands.
Fluiter K; Department of Clinical Genetics, LUMC, Leiden, The Netherlands, .
Andersen GR; Department of Molecular Biology and Genetics - Protein Science, Aarhus University, Aarhus, Denmark.
Baas F; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; Complement Pharma BV, Amsterdam, The Netherlands.

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Źródło:

Journal of innate immunity [J Innate Immun] 2023; Vol. 15 (1), pp. 16-36. Date of Electronic Publication: 2022 May 12.

Typ publikacji:

Journal Article

MeSH Terms:

Complement Membrane Attack Complex*/chemistry
Complement Membrane Attack Complex*/metabolism
Complement System Proteins*
Rats ; Animals ; Humans ; Rats, Transgenic ; Complement C6 ; Antibodies, Monoclonal/therapeutic use

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 3.

Tytuł:

Therapeutic Intervention with Anti-Complement Component 5 Antibody Does Not Reduce NASH but Does Attenuate Atherosclerosis and MIF Concentrations in Ldlr-/-.Leiden Mice.

Autorzy:

Seidel F; Department of Metabolic Health Research, Netherlands Organisation for Applied Scientific Research (TNO), 2333 CK Leiden, The Netherlands.; Department Medical Imaging, Anatomy, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 EZ Nijmegen, The Netherlands.
Kleemann R; Department of Metabolic Health Research, Netherlands Organisation for Applied Scientific Research (TNO), 2333 CK Leiden, The Netherlands.
van Duyvenvoorde W; Department of Metabolic Health Research, Netherlands Organisation for Applied Scientific Research (TNO), 2333 CK Leiden, The Netherlands.
van Trigt N; Department of Metabolic Health Research, Netherlands Organisation for Applied Scientific Research (TNO), 2333 CK Leiden, The Netherlands.
Keijzer N; Department of Metabolic Health Research, Netherlands Organisation for Applied Scientific Research (TNO), 2333 CK Leiden, The Netherlands.
van der Kooij S; Department of Internal Medicine (Nephrology) and Transplant Center, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
van Kooten C; Department of Internal Medicine (Nephrology) and Transplant Center, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Verschuren L; Department of Microbiology and Systems Biology, Netherlands Organisation for Applied Scientific Research (TNO), 3704 HE Zeist, The Netherlands.
Menke A; Department of Metabolic Health Research, Netherlands Organisation for Applied Scientific Research (TNO), 2333 CK Leiden, The Netherlands.
Kiliaan AJ; Department Medical Imaging, Anatomy, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 EZ Nijmegen, The Netherlands.
Winter J; Complement Biology Group, Systems Immunity Research Institute, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.; UK Dementia Research Institute Cardiff, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK.
Hughes TR; Complement Biology Group, Systems Immunity Research Institute, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.; UK Dementia Research Institute Cardiff, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK.
Morgan BP; Complement Biology Group, Systems Immunity Research Institute, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.; UK Dementia Research Institute Cardiff, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Fluiter K; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Morrison MC; Department of Metabolic Health Research, Netherlands Organisation for Applied Scientific Research (TNO), 2333 CK Leiden, The Netherlands.

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Źródło:

International journal of molecular sciences [Int J Mol Sci] 2022 Sep 14; Vol. 23 (18). Date of Electronic Publication: 2022 Sep 14.

Typ publikacji:

Journal Article

MeSH Terms:

Atherosclerosis*/metabolism
Macrophage Migration-Inhibitory Factors*/genetics
Macrophage Migration-Inhibitory Factors*/metabolism
Non-alcoholic Fatty Liver Disease*/metabolism
Animals ; Cholesterol/metabolism ; Complement C5/metabolism ; Diet, High-Fat/adverse effects ; Disease Models, Animal ; Liver/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Receptors, LDL/genetics ; Receptors, LDL/metabolism

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 4.

Tytuł:

Safety and efficacy of C1-inhibitor in traumatic brain injury (CIAO@TBI): study protocol for a randomized, placebo-controlled, multi-center trial.

Autorzy:

van Erp IAM; University Neurosurgical Center Holland, Leiden University Medical Center, Haaglanden Medical Center and Haga Teaching Hospital, Albinusdreef 2, J-11-R-83, 2333 ZA, Leiden, Hague, The Netherlands. i.a.m.van_.
van Essen TA; University Neurosurgical Center Holland, Leiden University Medical Center, Haaglanden Medical Center and Haga Teaching Hospital, Albinusdreef 2, J-11-R-83, 2333 ZA, Leiden, Hague, The Netherlands.
Fluiter K; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Zwet E; Department of Biomedical Data Science, Leiden University Medical Center, Leiden, The Netherlands.
van Vliet P; Department of Intensive Care, Haaglanden Medical Center, The Hague, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Haitsma I; Department of Neurosurgery, Erasmus MC - University Medical Center, Rotterdam, The Netherlands.
Verbaan D; Neurosurgical Center Amsterdam, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Coert B; Neurosurgical Center Amsterdam, Amsterdam University Medical Center, Amsterdam, The Netherlands.
de Ruiter GCW; University Neurosurgical Center Holland, Leiden University Medical Center, Haaglanden Medical Center and Haga Teaching Hospital, Albinusdreef 2, J-11-R-83, 2333 ZA, Leiden, Hague, The Netherlands.
Moojen WA; University Neurosurgical Center Holland, Leiden University Medical Center, Haaglanden Medical Center and Haga Teaching Hospital, Albinusdreef 2, J-11-R-83, 2333 ZA, Leiden, Hague, The Netherlands.
van der Jagt M; Department of Intensive Care Adults, Erasmus MC - University Medical Center, Rotterdam, The Netherlands.
Peul WC; University Neurosurgical Center Holland, Leiden University Medical Center, Haaglanden Medical Center and Haga Teaching Hospital, Albinusdreef 2, J-11-R-83, 2333 ZA, Leiden, Hague, The Netherlands.

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Źródło:

Trials [Trials] 2021 Dec 04; Vol. 22 (1), pp. 874. Date of Electronic Publication: 2021 Dec 04.

Typ publikacji:

Clinical Trial Protocol; Journal Article

MeSH Terms:

Brain Injuries*
Brain Injuries, Traumatic*/diagnosis
Brain Injuries, Traumatic*/drug therapy
Adult ; Humans ; Intention to Treat Analysis ; Multicenter Studies as Topic ; Neuroinflammatory Diseases ; Randomized Controlled Trials as Topic

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 5.

Tytuł:

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

Autorzy:

van Dijk T; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Barth PG; Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Poll-The BT; Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands. .

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Źródło:

Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jun 15; Vol. 13 (1), pp. 92. Date of Electronic Publication: 2018 Jun 15.

Typ publikacji:

Journal Article; Review

MeSH Terms:

Cerebellar Diseases/*diagnosis
Cerebellar Diseases/genetics ; Humans ; Neurology ; Phenotype

SCR Disease Name:

Pontocerebellar Hypoplasia

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 6.

Tytuł:

Systemic inhibition of the membrane attack complex impedes neuroinflammation in chronic relapsing experimental autoimmune encephalomyelitis.

Autorzy:

Michailidou I; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333, ZC, Leiden, The Netherlands.
Jongejan A; Department of Bioinformatics, Academic Medical Center, Amsterdam, The Netherlands.
Vreijling JP; Department of Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333, ZC, Leiden, The Netherlands.
Georgakopoulou T; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
de Wissel MB; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Wolterman RA; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Ruizendaal P; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Klar-Mohamad N; Department of Nephrology, Leiden University Medical Center, Leiden, The Netherlands.
Grootemaat AE; Electron Microscopy Centre Amsterdam, Department of Medical Biology, Academic Medical Center, Amsterdam, The Netherlands.
Picavet DI; Electron Microscopy Centre Amsterdam, Department of Medical Biology, Academic Medical Center, Amsterdam, The Netherlands.
Kumar V; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia.
van Kooten C; Department of Nephrology, Leiden University Medical Center, Leiden, The Netherlands.
Woodruff TM; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia.
Morgan BP; Systems Immunity University Research Institute, School of Medicine, Cardiff University, Cardiff, UK.
van der Wel NN; Electron Microscopy Centre Amsterdam, Department of Medical Biology, Academic Medical Center, Amsterdam, The Netherlands.
Ramaglia V; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.; Department of Immunology, University of Toronto, Toronto, Canada.
Fluiter K; Department of Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333, ZC, Leiden, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333, ZC, Leiden, The Netherlands. F.Baas@lumc.nl.

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Źródło:

Acta neuropathologica communications [Acta Neuropathol Commun] 2018 May 03; Vol. 6 (1), pp. 36. Date of Electronic Publication: 2018 May 03.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Anti-Inflammatory Agents/*therapeutic use
Complement Membrane Attack Complex/*antagonists & inhibitors
Complement Membrane Attack Complex/*metabolism
Encephalitis/*drug therapy
Encephalitis/*etiology
Encephalomyelitis, Autoimmune, Experimental/*complications
Animals ; Anti-Inflammatory Agents/chemistry ; Axons/drug effects ; Axons/pathology ; Axons/ultrastructure ; Complement Activation ; Complement Membrane Attack Complex/chemistry ; Disease Models, Animal ; Exoribonucleases/therapeutic use ; Male ; Mice ; Microscopy, Electron ; Models, Biological ; Peptides, Cyclic/therapeutic use ; RNA, Messenger/metabolism ; Receptor, Anaphylatoxin C5a/antagonists & inhibitors ; Receptor, Anaphylatoxin C5a/chemistry ; Receptor, Anaphylatoxin C5a/metabolism ; Synaptophysin/metabolism ; Synaptophysin/ultrastructure

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 7.

Tytuł:

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.

Autorzy:

van Paassen BW; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Bronk M; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Verhamme C; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
van Ruissen F; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Spaendonck-Zwarts KY; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.

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Źródło:

Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2017 Dec; Vol. 22 (4), pp. 464-467. Date of Electronic Publication: 2017 Sep 11.

Typ publikacji:

Case Reports

MeSH Terms:

Inheritance Patterns*
Charcot-Marie-Tooth Disease/*diagnosis
Charcot-Marie-Tooth Disease/*genetics
Nerve Tissue Proteins/*genetics
Adult ; Charcot-Marie-Tooth Disease/pathology ; Charcot-Marie-Tooth Disease/physiopathology ; Genes, Dominant ; Humans ; Middle Aged ; Pedigree

Raport

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 8.

Tytuł:

Neural response to alcohol taste cues in youth: effects of the OPRM1 gene.

Autorzy:

Korucuoglu O; Addiction, Development and Psychopathology (ADAPT)-lab, Department of Psychology, University of Amsterdam, The Netherlands.; Department of Psychological Sciences, University of Missouri, Columbia, MO, USA.
Gladwin TE; Addiction, Development and Psychopathology (ADAPT)-lab, Department of Psychology, University of Amsterdam, The Netherlands.; Research Centre - Military Mental Health, Ministry of Defense, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Centre, The Netherlands.
Mocking RJT; Program for Mood Disorders, Department of Psychiatry, Academic Medical Center, University of Amsterdam, The Netherlands.
Ruhé HG; Program for Mood Disorders, Department of Psychiatry, Academic Medical Center, University of Amsterdam, The Netherlands.; University of Groningen, University Medical Center Groningen, Mood and Anxiety Disorders, Department of Psychiatry, The Netherlands.
Groot PFC; Department of Radiology, Academic Medical Center, The Netherlands.
Wiers RW; Addiction, Development and Psychopathology (ADAPT)-lab, Department of Psychology, University of Amsterdam, The Netherlands.

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Źródło:

Addiction biology [Addict Biol] 2017 Nov; Vol. 22 (6), pp. 1562-1575. Date of Electronic Publication: 2016 Sep 05.

Typ publikacji:

Journal Article

MeSH Terms:

Cues*
Underage Drinking*
Brain/*drug effects
Ethanol/*pharmacology
Receptors, Opioid, mu/*genetics
Taste/*physiology
Adolescent ; Adult ; Brain/diagnostic imaging ; Brain/physiopathology ; Brain Mapping/methods ; Central Nervous System Depressants/pharmacology ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Young Adult

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 9.

Tytuł:

Profoundly Expanded T-cell Clones in the Inflamed and Uninflamed Intestine of Patients With Crohn's Disease.

Autorzy:

Doorenspleet ME; Amsterdam Rheumatology and immunology Center, Academic Medical Center, Amsterdam, The Netherlands.; Laboratory for Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Westera L; Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands.
Peters CP; Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands.
Hakvoort TBM; Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands.
Esveldt RE; Amsterdam Rheumatology and immunology Center, Academic Medical Center, Amsterdam, The Netherlands.; Laboratory for Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Vogels E; Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands.
van Kampen AHC; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, Amsterdam, The Netherland.
Baas F; Laboratory for Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Buskens C; Department of Surgery, Academic Medical Center, Amsterdam, The Netherlands.
Bemelman WA; Department of Surgery, Academic Medical Center, Amsterdam, The Netherlands.
D'Haens G; Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands.
Ponsioen CY; Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands.
Te Velde AA; Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands.
de Vries N; Amsterdam Rheumatology and immunology Center, Academic Medical Center, Amsterdam, The Netherlands.
van den Brink GR; Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands.; Department of Gastroenterology and Hepatology, Academic Medical Center, Amsterdam, The Netherlands.

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Źródło:

Journal of Crohn's & colitis [J Crohns Colitis] 2017 Jul 01; Vol. 11 (7), pp. 831-839.

Typ publikacji:

Journal Article

MeSH Terms:

Crohn Disease/*immunology
Crohn Disease/*pathology
Receptors, Antigen, T-Cell/*metabolism
T-Lymphocytes/*metabolism
T-Lymphocytes/*pathology
Adalimumab/therapeutic use ; Adult ; Anti-Inflammatory Agents/therapeutic use ; Biopsy ; Budesonide/therapeutic use ; C-Reactive Protein/metabolism ; Case-Control Studies ; Clone Cells/drug effects ; Colon/pathology ; Crohn Disease/drug therapy ; Female ; Gastrointestinal Agents/therapeutic use ; Humans ; Ileum/pathology ; Inflammation/immunology ; Inflammation/pathology ; Infliximab/therapeutic use ; Male ; Middle Aged ; Severity of Illness Index ; T-Lymphocytes/drug effects ; Young Adult

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 10.

Tytuł:

Deregulated expression of EZH2 in congenital brainstem disconnection.

Autorzy:

Barth PG; Department of Pediatric Neurology, Emma Children's Hospital/Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.; Department of (Neuro) Pathology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Aronica E; Department of (Neuro) Pathology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Fox S; Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.
Fluiter K; Department of Genome Analysis Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Weterman MAJ; Department of Genome Analysis Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Poretti A; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Miller DC; Department of Pathology and Anatomical Sciences, University of Missouri School of Medicine, Columbia, MO, USA.
Boltshauser E; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
Harding B; Departments of Pathology and Lab Medicine (Neuropathology), Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Santi M; Departments of Pathology and Lab Medicine (Neuropathology), Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Baas F; Department of Genome Analysis Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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Źródło:

Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2017 Jun; Vol. 43 (4), pp. 358-365.

Typ publikacji:

Case Reports; Letter; Research Support, Non-U.S. Gov't

MeSH Terms:

Brain Stem/*abnormalities
Enhancer of Zeste Homolog 2 Protein/*metabolism
Brain Stem/metabolism ; Child, Preschool ; Embryo, Mammalian ; Fetus ; Humans ; Infant ; Male

Raport

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 11.

Tytuł:

In Situ complement activation and T-cell immunity in leprosy spectrum: An immunohistological study on leprosy lesional skin.

Autorzy:

Bahia El Idrissi N; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Iyer AM; Department of Neuropathology, Academic Medical Center, Amsterdam, The Netherlands.
Ramaglia V; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Rosa PS; Instituto Lauro de Souza Lima, Bauru, Brazil.
Soares CT; Instituto Lauro de Souza Lima, Bauru, Brazil.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.; Department of Clinical genetics, Leiden University Medical Center, Leiden, The Netherlands.
Das PK; Department of Clinical Immunology, Colleges of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.

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Źródło:

PloS one [PLoS One] 2017 May 15; Vol. 12 (5), pp. e0177815. Date of Electronic Publication: 2017 May 15 (Print Publication: 2017).

Typ publikacji:

Journal Article

MeSH Terms:

Complement Activation/*immunology
Leprosy/*immunology
Leprosy/*pathology
Skin Diseases/*immunology
Skin Diseases/*pathology
T-Lymphocytes/*immunology
Adolescent ; Adult ; Bacterial Load ; Biomarkers ; Biopsy ; Child ; Complement C3d/immunology ; Complement Membrane Attack Complex/immunology ; Complement Membrane Attack Complex/metabolism ; Female ; Granuloma/immunology ; Granuloma/metabolism ; Granuloma/pathology ; Humans ; Immunohistochemistry ; Leprosy/microbiology ; Lipopolysaccharides ; Male ; Middle Aged ; T-Lymphocytes/metabolism ; Young Adult

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 12.

Tytuł:

Erratum to: Mannose-binding lectin-associated serine protease 2 (MASP-2) contributes to poor disease outcome in humans and mice with pneumococcal meningitis.

Autorzy:

Kasanmoentalib ES; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Seron MV; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Ferwerda B; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Tanck MW; Department of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Zwinderman AH; Department of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
van der Ende A; Department of Medical Microbiology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, Amsterdam, The Netherlands.; The Netherlands Reference Laboratory for Bacterial Meningitis, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, Amsterdam, The Netherlands.
Schwaeble WJ; Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, UK. .
Brouwer MC; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
van de Beek D; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands. .; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam Neuroscience, PO Box 22660, 1100 DD, Amsterdam, The Netherlands. .

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Źródło:

Journal of neuroinflammation [J Neuroinflammation] 2017 Apr 06; Vol. 14 (1), pp. 77. Date of Electronic Publication: 2017 Apr 06.

Typ publikacji:

Journal Article; Published Erratum

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 13.

Tytuł:

Mannose-binding lectin-associated serine protease 2 (MASP-2) contributes to poor disease outcome in humans and mice with pneumococcal meningitis.

Autorzy:

Kasanmoentalib ES; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Valls Seron M; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Ferwerda B; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Tanck MW; Department of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Zwinderman AH; Department of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
van der Ende A; Department of Medical Microbiology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, Amsterdam, The Netherlands.; The Netherlands Reference Laboratory for Bacterial Meningitis, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, Amsterdam, The Netherlands.
Schwaeble WJ
Brouwer MC; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.
van de Beek D; Department of Neurology, Academic Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands. .; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam Neuroscience, PO Box 22660, 1100 DD, Amsterdam, The Netherlands. .

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Źródło:

Journal of neuroinflammation [J Neuroinflammation] 2017 Jan 03; Vol. 14 (1), pp. 2. Date of Electronic Publication: 2017 Jan 03.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Gene Expression Regulation/*physiology
Mannose-Binding Protein-Associated Serine Proteases/*cerebrospinal fluid
Meningitis, Pneumococcal/*cerebrospinal fluid
Aged ; Animals ; Anti-Bacterial Agents/pharmacology ; Anti-Bacterial Agents/therapeutic use ; Antibodies/adverse effects ; Ceftriaxone/pharmacology ; Ceftriaxone/therapeutic use ; Cohort Studies ; Cytokines/genetics ; Cytokines/metabolism ; Disease Models, Animal ; Female ; Freund's Adjuvant/adverse effects ; Gene Expression Regulation/drug effects ; Gene Expression Regulation/genetics ; Glasgow Outcome Scale ; Humans ; Male ; Mannose-Binding Protein-Associated Serine Proteases/deficiency ; Mannose-Binding Protein-Associated Serine Proteases/genetics ; Mannose-Binding Protein-Associated Serine Proteases/immunology ; Meningitis, Pneumococcal/drug therapy ; Meningitis, Pneumococcal/physiopathology ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Middle Aged ; Time Factors

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 14.

Tytuł:

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.

Autorzy:

Schipper LJ; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Raaphorst J; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. .; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. .
Aronica E; Department of Neuropathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
de Haan R; Clinical Research Unit, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Troost D; Department of Neuropathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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Źródło:

Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2016 Oct; Vol. 42 (6), pp. 547-60.

Typ publikacji:

Journal Article; Review; Systematic Review

MeSH Terms:

Amyotrophic Lateral Sclerosis/*pathology
Brain/*pathology
Frontotemporal Dementia/*pathology
Inclusion Bodies/*pathology
Spinal Cord/*pathology
Adult ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/genetics ; C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; DNA-Binding Proteins/metabolism ; Female ; Frontotemporal Dementia/genetics ; Humans ; Male ; Middle Aged ; RNA-Binding Proteins/metabolism

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 15.

Tytuł:

Effect of Hyperglycemia on Gene Expression during Early Organogenesis in Mice.

Autorzy:

Zhao J; Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Hakvoort TB; Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Willemsen AM; Bioinformatics Laboratory, Department of Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Jongejan A; Bioinformatics Laboratory, Department of Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Sokolovic M; Department of Biochemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Bradley EJ; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
de Boer VC; Department of Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
van Kampen AH; Bioinformatics Laboratory, Department of Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Biosystems Data Analysis Group, University of Amsterdam, Amsterdam, The Netherlands.
Lamers WH; Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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Źródło:

PloS one [PLoS One] 2016 Jul 19; Vol. 11 (7), pp. e0158035. Date of Electronic Publication: 2016 Jul 19 (Print Publication: 2016).

Typ publikacji:

Journal Article

MeSH Terms:

Gene Expression Regulation, Developmental*
Diabetes Mellitus, Experimental/*genetics
Embryonic Development/*genetics
Heart Defects, Congenital/*genetics
Hyperglycemia/*genetics
Nervous System Malformations/*genetics
Adenosine Triphosphate/biosynthesis ; Animals ; Cell Proliferation/genetics ; Diabetes Mellitus, Experimental/chemically induced ; Diabetes Mellitus, Experimental/complications ; Embryo, Mammalian ; Female ; Gene Expression Profiling ; Gene Ontology ; Glycolysis/genetics ; Heart Defects, Congenital/etiology ; Hyperglycemia/chemically induced ; Hyperglycemia/complications ; Mice ; Molecular Sequence Annotation ; Multigene Family ; Nervous System Malformations/etiology ; Oxidative Phosphorylation ; Pregnancy ; Streptozocin

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 16.

Tytuł:

Complement activation in leprosy: a retrospective study shows elevated circulating terminal complement complex in reactional leprosy.

Autorzy:

Bahia El Idrissi N; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105, AZ, the Netherlands.
Hakobyan S; Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, UK.
Ramaglia V; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105, AZ, the Netherlands.
Geluk A; Department of Infectious Diseases, Leiden University Medical Centre, Leiden, the Netherlands.
Morgan BP; Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, UK.
Das PK; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105, AZ, the Netherlands.; Department of Clinical Immunology, Colleges of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105, AZ, the Netherlands.

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Źródło:

Clinical and experimental immunology [Clin Exp Immunol] 2016 Jun; Vol. 184 (3), pp. 338-46. Date of Electronic Publication: 2016 Mar 31.

Typ publikacji:

Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

MeSH Terms:

Complement Activation*
Immunity, Innate*
Clusterin/*blood
Complement C3b/*metabolism
Complement Membrane Attack Complex/*metabolism
Leprosy/*immunology
Adolescent ; Adult ; Bangladesh ; Biomarkers/blood ; Ethiopia ; Female ; Host-Pathogen Interactions ; Humans ; Leprosy/blood ; Leprosy/diagnosis ; Leprosy/microbiology ; Male ; Middle Aged ; Mycobacterium leprae/immunology ; Mycobacterium leprae/pathogenicity ; Retrospective Studies

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 17.

Tytuł:

V-akt murine thymoma viral oncogene homolog 3 (AKT3) contributes to poor disease outcome in humans and mice with pneumococcal meningitis.

Autorzy:

Valls Serón M; Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100DD, Amsterdam, The Netherlands.
Ferwerda B; Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100DD, Amsterdam, The Netherlands.
Engelen-Lee J; Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100DD, Amsterdam, The Netherlands.
Geldhoff M; Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100DD, Amsterdam, The Netherlands.
Jaspers V; Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100DD, Amsterdam, The Netherlands.
Zwinderman AH; Department of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Tanck MW; Department of Clinical Epidemiology, Biostatistics, and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
van der Ende A; Department of Medical Microbiology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, Amsterdam, The Netherlands.; The Netherlands Reference Laboratory for Bacterial Meningitis, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, Amsterdam, The Netherlands.
Brouwer MC; Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100DD, Amsterdam, The Netherlands.
van de Beek D; Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100DD, Amsterdam, The Netherlands. .

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Źródło:

Acta neuropathologica communications [Acta Neuropathol Commun] 2016 May 18; Vol. 4 (1), pp. 50. Date of Electronic Publication: 2016 May 18.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Genetic Predisposition to Disease*
Meningitis, Pneumococcal/*genetics
Proto-Oncogene Proteins c-akt/*genetics
Animals ; Carrier Proteins/genetics ; Cytokines/cerebrospinal fluid ; Disease Models, Animal ; Dynactin Complex/genetics ; Genetic Association Studies ; Histocompatibility Antigens Class I/genetics ; Humans ; Male ; Membrane Proteins/genetics ; Meningitis, Pneumococcal/metabolism ; Meningitis, Pneumococcal/pathology ; Meningitis, Pneumococcal/therapy ; Mice, Inbred C57BL ; Mice, Knockout ; Middle Aged ; Netherlands ; Prospective Studies ; Proto-Oncogene Proteins c-akt/deficiency ; Survival Analysis ; Treatment Outcome

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 18.

Tytuł:

Complement activation at the motor end-plates in amyotrophic lateral sclerosis.

Autorzy:

Bahia El Idrissi N; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
Bosch S; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
Ramaglia V; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
Aronica E; Department of Neuropathology, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands. f.baas@amc.nl.
Troost D; Department of Neuropathology, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.

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Źródło:

Journal of neuroinflammation [J Neuroinflammation] 2016 Apr 07; Vol. 13 (1), pp. 72. Date of Electronic Publication: 2016 Apr 07.

Typ publikacji:

Journal Article

MeSH Terms:

Complement Activation*
Motor Endplate*
Amyotrophic Lateral Sclerosis/*physiopathology
Aged ; Aged, 80 and over ; Animals ; Biopsy ; CD55 Antigens/metabolism ; CD59 Antigens/metabolism ; Complement C1q/metabolism ; Complement Membrane Attack Complex/metabolism ; Female ; Humans ; Intercostal Muscles/pathology ; Male ; Mice ; Middle Aged ; Neurofilament Proteins/metabolism ; Superoxide Dismutase-1/genetics ; Superoxide Dismutase-1/metabolism

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 19.

Tytuł:

A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.

Autorzy:

Aerts MB; Department of Neurology Donders Institute for Brain, Cognition, and Behaviour Radboud University Medical Center Nijmegen The Netherlands.
Weterman MA; Department of Genome Analysis Academic Medical Center Amsterdam The Netherlands.
Quadri M; Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands.
Schelhaas HJ; Epilepsy Centre Kempenhaeghe Heeze The Netherlands.
Bloem BR; Department of Neurology Donders Institute for Brain, Cognition, and Behaviour Radboud University Medical Center Nijmegen The Netherlands.
Esselink RA; Department of Neurology Donders Institute for Brain, Cognition, and Behaviour Radboud University Medical Center Nijmegen The Netherlands.
Baas F; Department of Genome Analysis Academic Medical Center Amsterdam The Netherlands.
Bonifati V; Department of Clinical Genetics Erasmus MC Rotterdam The Netherlands.
van de Warrenburg BP; Department of Neurology Donders Institute for Brain, Cognition, and Behaviour Radboud University Medical Center Nijmegen The Netherlands.

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Źródło:

Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2015 Dec 22; Vol. 3 (2), pp. 146-9. Date of Electronic Publication: 2015 Dec 22 (Print Publication: 2016).

Typ publikacji:

Journal Article

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 20.

Tytuł:

Somatic Variation of T-Cell Receptor Genes Strongly Associate with HLA Class Restriction.

Autorzy:

Klarenbeek PL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America; Department of Clinical Immunology and Rheumatology, Laboratory for Experimental Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory for Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Doorenspleet ME; Department of Clinical Immunology and Rheumatology, Laboratory for Experimental Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory for Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Esveldt RE; Department of Clinical Immunology and Rheumatology, Laboratory for Experimental Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
van Schaik BD; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, University of Amsterdam, Amsterdam, The Netherlands.
Lardy N; Department of Immunogenetics, Sanquin Diagnostic Services, Amsterdam, The Netherlands.
van Kampen AH; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, University of Amsterdam, Amsterdam, The Netherlands.
Tak PP; Department of Clinical Immunology and Rheumatology, Laboratory for Experimental Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Plenge RM; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
Baas F; Laboratory for Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
de Bakker PI; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America; Department of Epidemiology, University Medical Center, Utrecht, The Netherlands; Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands.
de Vries N; Department of Clinical Immunology and Rheumatology, Laboratory for Experimental Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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Źródło:

PloS one [PLoS One] 2015 Oct 30; Vol. 10 (10), pp. e0140815. Date of Electronic Publication: 2015 Oct 30 (Print Publication: 2015).

Typ publikacji:

Journal Article

MeSH Terms:

Genes, T-Cell Receptor/*genetics
HLA Antigens/*genetics
CD4-Positive T-Lymphocytes/metabolism ; CD8-Positive T-Lymphocytes/metabolism ; Cell Differentiation/genetics ; Cell Lineage/genetics ; Genes, T-Cell Receptor alpha/genetics ; Genes, T-Cell Receptor beta/genetics ; Genetic Variation ; Humans ; Receptors, Antigen, T-Cell/genetics

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 21.

Tytuł:

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Autorzy:

Tan-Sindhunata MB; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Smit M; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
de Vries JI; Department of Obstetrics and Gynaecology, Research Institute MOVE, VU University Medical Center, Amsterdam, The Netherlands.
van der Voorn JP; Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.
Kluijt I; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Hagen MA; Department of Obstetrics and Gynaecology, Research Institute MOVE, VU University Medical Center, Amsterdam, The Netherlands.
Blom EW; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.
Sistermans E; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Meijers-Heijboer H; 1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands [2] Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Waisfisz Q; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Weiss MM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Groffen AJ; 1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands [2] Department of Functional Genomics, Center for Neurogenomics and Cognition Research, VU University, Amsterdam, The Netherlands.

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Źródło:

European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Sep; Vol. 23 (9), pp. 1151-7. Date of Electronic Publication: 2014 Dec 24.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Founder Effect*
Mutation*
Arthrogryposis/*genetics
Motor Endplate/*genetics
Receptor Protein-Tyrosine Kinases/*genetics
Receptors, Cholinergic/*genetics
Alleles ; Amino Acid Sequence ; Arthrogryposis/diagnosis ; Arthrogryposis/pathology ; Base Sequence ; Female ; Fetus ; Gene Expression ; Gene Frequency ; Genes, Lethal ; Genetic Testing ; Homozygote ; Humans ; Male ; Molecular Sequence Data ; Motor Endplate/pathology ; Muscle Cells/metabolism ; Muscle Cells/pathology ; Netherlands ; Pedigree ; Prenatal Diagnosis ; Primary Cell Culture ; Receptors, Cholinergic/chemistry

SCR Disease Name:

Pena Shokeir syndrome, type 1

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 22.

Tytuł:

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Autorzy:

Cirulli ET; Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, NC 27708, USA.
Lasseigne BN; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Petrovski S; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Sapp PC; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Dion PA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada.
Leblond CS; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada.
Couthouis J; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Lu YF; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Wang Q; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Krueger BJ; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Ren Z; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Keebler J; Duke University School of Medicine, Durham, NC 27708, USA.
Han Y; Duke University School of Medicine, Durham, NC 27708, USA.
Levy SE; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Boone BE; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Wimbish JR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Waite LL; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Jones AL; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Carulli JP; Biogen Idec, Cambridge, MA 02142, USA.
Day-Williams AG; Biogen Idec, Cambridge, MA 02142, USA.
Staropoli JF; Biogen Idec, Cambridge, MA 02142, USA.
Xin WW; Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetics Research, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
Chesi A; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Raphael AR; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Cady J; Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Vianney de Jong JM; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, Netherlands.
Kenna KP; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland.
Smith BN; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Topp S; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Miller J; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Gkazi A; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Al-Chalabi A; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Centre Utrecht, 3508 GA Utrecht, Netherlands.
Veldink J; Department of Neurology, Brain Center Rudolf Magnus, University Medical Centre Utrecht, 3508 GA Utrecht, Netherlands.
Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy, and Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy.
Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy, and Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy.
Shaw CE; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Baloh RH; Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.
Appel S; Houston Methodist Hospital, Houston, TX 77030, USA, and Weill Cornell Medical College of Cornell University, New York, NY 10065, USA.
Simpson E; Houston Methodist Hospital, Houston, TX 77030, USA, and Weill Cornell Medical College of Cornell University, New York, NY 10065, USA.
Lagier-Tourenne C; Ludwig Institute for Cancer Research and Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Pulst SM; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Gibson S; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Trojanowski JQ; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Elman L; Department of Neurology, Penn ALS Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
McCluskey L; Department of Neurology, Penn ALS Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Grossman M; Department of Neurology, Penn Frontotemporal Degeneration Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Shneider NA; Department of Neurology, Center for Motor Neuron Biology and Disease, Columbia University, New York, NY 10032, USA.
Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
Ravits JM; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Glass JD; Department of Neurology, Emory University, Atlanta, GA 30322, USA.
Sims KB; Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetics Research, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
Van Deerlin VM; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Maniatis T; Department of Biochemistry & Molecular Biophysics, Columbia University, New York, NY 10027, USA.
Hayes SD; Biogen Idec, Cambridge, MA 02142, USA. Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Ordureau A; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Swarup S; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Landers J; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Baas F; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, Netherlands.
Allen AS; Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27708, USA.
Bedlack RS; Duke ALS Clinic and Durham VA Medical Center, Durham, NC 27708, USA.
Harper JW; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada.
Brown R; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Harms MB; Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Harris T; Biogen Idec, Cambridge, MA 02142, USA. .
Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.

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Corporate Authors:

FALS Sequencing Consortium

Źródło:

Science (New York, N.Y.) [Science] 2015 Mar 27; Vol. 347 (6229), pp. 1436-41. Date of Electronic Publication: 2015 Feb 19.

Typ publikacji:

Journal Article

MeSH Terms:

Genetic Predisposition to Disease*
Amyotrophic Lateral Sclerosis/*genetics
Autophagy/*genetics
Exome/*genetics
Protein Serine-Threonine Kinases/*genetics
Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cell Cycle Proteins ; Female ; Genes ; Genetic Association Studies ; Humans ; Male ; Membrane Transport Proteins ; Middle Aged ; Protein Binding ; Protein Serine-Threonine Kinases/metabolism ; Risk ; Sequence Analysis, DNA ; Sequestosome-1 Protein ; Transcription Factor TFIIIA/genetics ; Transcription Factor TFIIIA/metabolism ; Young Adult

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 23.

Tytuł:

A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.

Autorzy:

Beeldman E; a Department of Neurology , The Netherlands.
van der Kooi AJ; a Department of Neurology , The Netherlands.
de Visser M; a Department of Neurology , The Netherlands.
van Maarle MC; b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
van Ruissen F; b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
Baas F; a Department of Neurology , The Netherlands.; b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.

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Źródło:

Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2015; Vol. 16 (5-6), pp. 410-1. Date of Electronic Publication: 2015 Jul 23.

Typ publikacji:

Case Reports; Journal Article

MeSH Terms:

Family Health*
Motor Neuron Disease/*genetics
Mutation/*genetics
Transcription Factor TFIIIA/*genetics
Adult ; Aged ; Cell Cycle Proteins ; Electromyography ; Female ; Humans ; Male ; Membrane Transport Proteins ; Netherlands ; Young Adult

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły

Skocz do pozycji: 24.

Tytuł:

Focal chromosomal copy number aberrations identify CMTM8 and GPR177 as new candidate driver genes in osteosarcoma.

Autorzy:

Both J; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Krijgsman O; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands.
Bras J; Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands.
Schaap GR; Department of Orthopedic Surgery, Academic Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Ylstra B; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands.
Hulsebos TJ; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.

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Źródło:

PloS one [PLoS One] 2014 Dec 31; Vol. 9 (12), pp. e115835. Date of Electronic Publication: 2014 Dec 31 (Print Publication: 2014).

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Bone Neoplasms/*genetics
Chemokines/*genetics
DNA Copy Number Variations/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
MARVEL Domain-Containing Proteins/*genetics
Osteosarcoma/*genetics
Receptors, G-Protein-Coupled/*genetics
Adolescent ; Adult ; Cell Transformation, Neoplastic/genetics ; Child ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Female ; Gene Dosage/genetics ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Oncogenes/genetics ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins c-met/antagonists & inhibitors ; Tumor Suppressor Proteins/genetics ; Wnt Signaling Pathway/genetics ; Young Adult

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 25.

Tytuł:

Mutations in ZBTB20 cause Primrose syndrome.

Autorzy:

Cordeddu V; 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
Redeker B; 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2].
Stellacci E; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
Jongejan A; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Fragale A; Dipartimento di Malattie Infettive, Parassitarie e Immunomediate, Istituto Superiore di Sanità, Rome, Italy.
Bradley TE; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Anselmi M; Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
Ciolfi A; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
Cecchetti S; Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy.
Muto V; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
Bernardini L; Laboratorio Mendel, Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Azage M; Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Carvalho DR; Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
Espay AJ; Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA.
Male A; Clinical Genetics Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
Molin AM; Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Posmyk R; Podlaskie Center of Clinical Genetics, Białystok, Poland.
Battisti C; Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Università degli Studi di Siena, Policlinico Le Scotte, Siena, Italy.
Casertano A; Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
Melis D; Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
van Kampen A; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Mannens MM; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Bocchinfuso G; Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
Stella L; Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
Tartaglia M; 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
Hennekam RC; 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].

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Źródło:

Nature genetics [Nat Genet] 2014 Aug; Vol. 46 (8), pp. 815-7. Date of Electronic Publication: 2014 Jul 13.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Mutation, Missense*
Abnormalities, Multiple/*genetics
Calcinosis/*genetics
Ear Diseases/*genetics
Intellectual Disability/*genetics
Muscular Atrophy/*genetics
Nerve Tissue Proteins/*genetics
Transcription Factors/*genetics
Amino Acid Sequence ; Base Sequence ; Cell Line ; Chromosome Deletion ; Chromosomes, Human, Pair 3 ; Developmental Disabilities/genetics ; Female ; Genetic Predisposition to Disease ; HEK293 Cells ; Humans ; Male ; Models, Molecular ; Molecular Sequence Data ; Sequence Homology, Amino Acid

SCR Disease Name:

Primrose syndrome

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 26.

Tytuł:

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

Autorzy:

van Paassen BW; Department of Clinical Genetics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands. .
van der Kooi AJ
van Spaendonck-Zwarts KY
Verhamme C
Baas F
de Visser M

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Źródło:

Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Mar 19; Vol. 9, pp. 38. Date of Electronic Publication: 2014 Mar 19.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't; Review

MeSH Terms:

Genetic Predisposition to Disease*
Arthrogryposis/*genetics
Charcot-Marie-Tooth Disease/*genetics
Hereditary Sensory and Motor Neuropathy/*genetics
Myelin Proteins/*genetics
Arthrogryposis/diagnosis ; Arthrogryposis/therapy ; Charcot-Marie-Tooth Disease/therapy ; Genetic Counseling ; Hereditary Sensory and Motor Neuropathy/diagnosis ; Hereditary Sensory and Motor Neuropathy/therapy ; Humans ; Point Mutation ; Prognosis

SCR Disease Name:

Tomaculous neuropathy

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 27.

Tytuł:

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Autorzy:

Eggens VR
Barth PG
Niermeijer JM
Berg JN
Darin N
Dixit A
Fluss J
Foulds N
Fowler D
Hortobágyi T
Jacques T
King MD
Makrythanasis P
Máté A
Nicoll JA
O'Rourke D
Price S
Williams AN
Wilson L
Suri M
Sztriha L
Dijns-de Wissel MB
van Meegen MT
van Ruissen F
Aronica E
Troost D
Majoie CB
Marquering HA
Poll-Thé BT
Baas F; Department of Genome Analysis, Academic Medical Centre, Amsterdam, the Netherlands. f.baas@amc.uva.nl.

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Źródło:

Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Feb 13; Vol. 9, pp. 23. Date of Electronic Publication: 2014 Feb 13.

Typ publikacji:

Journal Article

MeSH Terms:

Exosome Multienzyme Ribonuclease Complex/*genetics
Olivopontocerebellar Atrophies/*genetics
RNA-Binding Proteins/*genetics
Brain/pathology ; Female ; Genetic Association Studies ; Humans ; Male ; Mutation

SCR Disease Name:

Pontocerebellar Hypoplasia Type 1

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 28.

Tytuł:

Genetic variation and cerebrospinal fluid levels of mannose binding lectin in pneumococcal meningitis patients.

Autorzy:

Brouwer MC; Department of Neurology, Academic Medical Center, Center of Infection and Immunity Amsterdam (CINIMA), Amsterdam, The Netherlands.
Baas F
van der Ende A
van de Beek D

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Źródło:

PloS one [PLoS One] 2013 May 31; Vol. 8 (5), pp. e65151. Date of Electronic Publication: 2013 May 31 (Print Publication: 2013).

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Genetic Variation*
Mannose-Binding Lectin/*cerebrospinal fluid
Mannose-Binding Lectin/*genetics
Meningitis, Pneumococcal/*cerebrospinal fluid
Meningitis, Pneumococcal/*genetics
Aged ; Alleles ; Case-Control Studies ; Female ; Genetic Association Studies ; Genotype ; Humans ; Male ; Meningitis, Pneumococcal/complications ; Middle Aged ; Odds Ratio ; Patient Outcome Assessment ; Polymorphism, Genetic ; Prospective Studies

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 29.

Tytuł:

Inhibition of endoplasmic reticulum associated degradation reduces endoplasmic reticulum stress and alters lysosomal morphology and distribution.

Autorzy:

Elfrink HL; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Zwart R
Baas F
Scheper W

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Źródło:

Molecules and cells [Mol Cells] 2013 Apr; Vol. 35 (4), pp. 291-7. Date of Electronic Publication: 2013 Mar 18.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Alkaloids/*pharmacology
Endoplasmic Reticulum Stress/*drug effects
Endoplasmic Reticulum-Associated Degradation/*drug effects
Cell Culture Techniques ; Endoplasmic Reticulum Stress/physiology ; Endoplasmic Reticulum-Associated Degradation/physiology ; HeLa Cells ; Humans ; Lysosomes/genetics ; Lysosomes/metabolism ; Microscopy, Confocal ; Unfolded Protein Response

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 30.

Tytuł:

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

Autorzy:

Smith BN; Department of Clinical Neurosciences, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College London, London, UK.
Newhouse S
Shatunov A
Vance C
Topp S
Johnson L
Miller J
Lee Y
Troakes C
Scott KM
Jones A
Gray I
Wright J
Hortobágyi T
Al-Sarraj S
Rogelj B
Powell J
Lupton M
Lovestone S
Sapp PC
Weber M
Nestor PJ
Schelhaas HJ
Asbroek AA
Silani V
Gellera C
Taroni F
Ticozzi N
Van den Berg L
Veldink J
Van Damme P
Robberecht W
Shaw PJ
Kirby J
Pall H
Morrison KE
Morris A
de Belleroche J
Vianney de Jong JM
Baas F
Andersen PM
Landers J
Brown RH Jr
Weale ME
Al-Chalabi A
Shaw CE

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Źródło:

European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jan; Vol. 21 (1), pp. 102-8. Date of Electronic Publication: 2012 Jun 13.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Founder Effect*
Mutation*
Amyotrophic Lateral Sclerosis/*genetics
Frontotemporal Dementia/*genetics
Proteins/*genetics
Age of Onset ; Amyotrophic Lateral Sclerosis/epidemiology ; C9orf72 Protein ; Cohort Studies ; Europe/epidemiology ; Frontotemporal Dementia/epidemiology ; Gene Frequency ; Genomic Instability ; Haplotypes ; Humans ; Polymorphism, Single Nucleotide ; Repetitive Sequences, Nucleic Acid

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 31.

Tytuł:

Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed.

Autorzy:

Koehler PJ; Department of Neurology, Atrium Medical Centre, PO Box 4446, 6401 CX Heerlen, The Netherlands. />Baas F

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Źródło:

Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2012 Dec; Vol. 17 (4), pp. 412-3.

Typ publikacji:

Case Reports; Historical Article; Journal Article

MeSH Terms:

Arthrogryposis/*diagnosis
Arthrogryposis/*history
Hereditary Sensory and Motor Neuropathy/*diagnosis
Hereditary Sensory and Motor Neuropathy/*history
Adolescent ; Arthrogryposis/genetics ; Chromosomes, Human, Pair 17 ; Gene Deletion ; Hereditary Sensory and Motor Neuropathy/genetics ; History, 20th Century ; Humans ; Hypesthesia/etiology ; Male ; Muscle Weakness/etiology ; Myelin Proteins/genetics ; Netherlands ; Neural Conduction/genetics ; Pedigree

SCR Disease Name:

Tomaculous neuropathy

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 32.

Tytuł:

Deep sequencing of antiviral T-cell responses to HCMV and EBV in humans reveals a stable repertoire that is maintained for many years.

Autorzy:

Klarenbeek PL; Department of Clinical Immunology & Rheumatology, Academic Medical Center, Amsterdam, the Netherlands.
Remmerswaal EB
ten Berge IJ
Doorenspleet ME
van Schaik BD
Esveldt RE
Koch SD
ten Brinke A
van Kampen AH
Bemelman FJ
Tak PP
Baas F
de Vries N
van Lier RA

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Źródło:

PLoS pathogens [PLoS Pathog] 2012 Sep; Vol. 8 (9), pp. e1002889. Date of Electronic Publication: 2012 Sep 27.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

CD8-Positive T-Lymphocytes/*immunology
Cytomegalovirus/*immunology
Cytomegalovirus Infections/*immunology
Epstein-Barr Virus Infections/*immunology
Herpesvirus 4, Human/*immunology
Receptors, Antigen, T-Cell/*genetics
Antigens, Viral/immunology ; Cytomegalovirus/genetics ; Herpesvirus 4, Human/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Kidney Transplantation/immunology ; Middle Aged ; Time Factors ; Virus Latency ; Young Adult

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 33.

Tytuł:

Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.

Autorzy:

Jansen C; Dutch Surveillance Centre for Prion Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands. />Parchi P
Capellari S
Ibrahim-Verbaas CA
Schuur M
Strammiello R
Corrado P
Bishop MT
van Gool WA
Verbeek MM
Baas F
van Saane W
Spliet WG
Jansen GH
van Duijn CM
Rozemuller AJ

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Źródło:

PloS one [PLoS One] 2012; Vol. 7 (4), pp. e36333. Date of Electronic Publication: 2012 Apr 30.

Typ publikacji:

Journal Article

MeSH Terms:

Prion Diseases/*epidemiology
Prion Diseases/*genetics
Adult ; Aged ; Aged, 80 and over ; Creutzfeldt-Jakob Syndrome/epidemiology ; Creutzfeldt-Jakob Syndrome/genetics ; Creutzfeldt-Jakob Syndrome/metabolism ; Female ; Humans ; Male ; Middle Aged ; Netherlands/epidemiology ; Prion Diseases/metabolism ; Prions/metabolism

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 34.

Tytuł:

Genetic variation in the β2-adrenocepter gene is associated with susceptibility to bacterial meningitis in adults.

Autorzy:

Adriani KS; Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), University of Amsterdam, Amsterdam, The Netherlands.
Brouwer MC
Baas F
Zwinderman AH
van der Ende A
van de Beek D

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Źródło:

PloS one [PLoS One] 2012; Vol. 7 (5), pp. e37618. Date of Electronic Publication: 2012 May 18.

Typ publikacji:

Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Genetic Variation*
Genetic Predisposition to Disease/*genetics
Meningitis, Meningococcal/*genetics
Meningitis, Pneumococcal/*genetics
Receptors, Adrenergic, beta-2/*genetics
Adrenergic beta-Antagonists/pharmacology ; Adult ; Case-Control Studies ; Genetic Association Studies ; Genotype ; Humans ; Odds Ratio ; Polymorphism, Single Nucleotide/genetics ; Prospective Studies

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 35.

Tytuł:

Identification of novel candidate oncogenes in chromosome region 17p11.2-p12 in human osteosarcoma.

Autorzy:

Both J; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
Wu T
Bras J
Schaap GR
Baas F
Hulsebos TJ

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Źródło:

PloS one [PLoS One] 2012; Vol. 7 (1), pp. e30907. Date of Electronic Publication: 2012 Jan 26.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Cloning, Molecular*/methods
Bone Neoplasms/*genetics
Chromosomes, Human, Pair 17/*genetics
Oncogenes/*genetics
Osteosarcoma/*genetics
Adolescent ; Adult ; Aged ; Bone Neoplasms/pathology ; Child ; Cohort Studies ; Female ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Osteosarcoma/pathology ; Tumor Cells, Cultured ; Young Adult

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 36.

Tytuł:

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Autorzy:

Namavar Y; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Barth PG
Poll-The BT
Baas F

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Źródło:

Orphanet journal of rare diseases [Orphanet J Rare Dis] 2011 Jul 12; Vol. 6, pp. 50. Date of Electronic Publication: 2011 Jul 12.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't; Review

MeSH Terms:

Olivopontocerebellar Atrophies*/classification
Olivopontocerebellar Atrophies*/diagnostic imaging
Olivopontocerebellar Atrophies*/genetics
Olivopontocerebellar Atrophies*/pathology
Animals ; Arginine-tRNA Ligase/genetics ; Brain/pathology ; Child ; Child, Preschool ; Disease Models, Animal ; Endoribonucleases/genetics ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Mutation ; Radiography

SCR Disease Name:

Pontocerebellar Hypoplasia Type 1; Pontocerebellar Hypoplasia Type 6

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 37.

Tytuł:

Endoplasmic reticulum stress activates autophagy but not the proteasome in neuronal cells: implications for Alzheimer's disease.

Autorzy:

Nijholt DA; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
de Graaf TR
van Haastert ES
Oliveira AO
Berkers CR
Zwart R
Ovaa H
Baas F
Hoozemans JJ
Scheper W

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Źródło:

Cell death and differentiation [Cell Death Differ] 2011 Jun; Vol. 18 (6), pp. 1071-81. Date of Electronic Publication: 2011 Jan 21.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Autophagy*
Unfolded Protein Response*
Alzheimer Disease/*metabolism
Endoplasmic Reticulum/*metabolism
Neurons/*metabolism
Alzheimer Disease/genetics ; Endoplasmic Reticulum/genetics ; HEK293 Cells ; Humans ; NF-kappa B/genetics ; NF-kappa B/metabolism ; Proteasome Endopeptidase Complex/genetics ; Proteasome Endopeptidase Complex/metabolism

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 38.

Tytuł:

The phenotype of the Gly94fsX222 PMP22 insertion.

Autorzy:

de Vries SD; Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Verhamme C
van Ruissen F
van Paassen BW
Arts WF
Kerkhoff H
van Engelen BG
Lammens M
de Visser M
Baas F
van der Kooi AJ

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Źródło:

Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2011 Jun; Vol. 16 (2), pp. 113-8.

Typ publikacji:

Journal Article

MeSH Terms:

Arthrogryposis/*genetics
Arthrogryposis/*physiopathology
Charcot-Marie-Tooth Disease/*genetics
Charcot-Marie-Tooth Disease/*physiopathology
Hereditary Sensory and Motor Neuropathy/*genetics
Hereditary Sensory and Motor Neuropathy/*physiopathology
Myelin Proteins/*genetics
Adolescent ; Adult ; Arthrogryposis/pathology ; Charcot-Marie-Tooth Disease/pathology ; Child ; Electrophysiology ; Female ; Hereditary Sensory and Motor Neuropathy/pathology ; Humans ; Male ; Mutation, Missense ; Phenotype ; Point Mutation ; Young Adult

SCR Disease Name:

Tomaculous neuropathy

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 39.

Tytuł:

TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Autorzy:

Namavar Y; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Chitayat D
Barth PG
van Ruissen F
de Wissel MB
Poll-The BT
Silver R
Baas F

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Źródło:

European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Jun; Vol. 19 (6), pp. 724-6. Date of Electronic Publication: 2011 Feb 02.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Mutation*
Endoribonucleases/*genetics
Olivopontocerebellar Atrophies/*genetics
Cerebellum/abnormalities ; Female ; Fetus ; Heterozygote ; Humans ; Olivary Nucleus/abnormalities ; Pedigree ; Pons/abnormalities ; Pregnancy

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 40.

Tytuł:

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?

Autorzy:

Ritz K; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
van Schaik BD
Jakobs ME
van Kampen AH
Aronica E
Tijssen MA
Baas F

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Źródło:

European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Apr; Vol. 19 (4), pp. 438-44. Date of Electronic Publication: 2010 Dec 15.

Typ publikacji:

Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

MeSH Terms:

Alternative Splicing/*genetics
Mutation/*genetics
Sarcoglycans/*genetics
Aged ; Aged, 80 and over ; Brain/metabolism ; Dystonic Disorders/genetics ; Dystonic Disorders/metabolism ; Female ; Genomic Imprinting ; Humans ; Male ; Middle Aged ; Neurons/metabolism ; Pedigree ; Phenotype ; Protein Isoforms/genetics ; Purkinje Cells/metabolism

SCR Disease Name:

Myoclonic dystonia

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 41.

Tytuł:

A sensitive assay for virus discovery in respiratory clinical samples.

Autorzy:

de Vries M; Laboratory of Experimental Virology, Department of Medical Microbiology, Center for Infection and Immunity Amsterdam, Academic Medical Center of the University of Amsterdam, Amsterdam, The Netherlands.
Deijs M
Canuti M
van Schaik BD
Faria NR
van de Garde MD
Jachimowski LC
Jebbink MF
Jakobs M
Luyf AC
Coenjaerts FE
Claas EC
Molenkamp R
Koekkoek SM
Lammens C
Leus F
Goossens H
Ieven M
Baas F
van der Hoek L

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Źródło:

PloS one [PLoS One] 2011 Jan 24; Vol. 6 (1), pp. e16118. Date of Electronic Publication: 2011 Jan 24.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Diagnostic Techniques, Respiratory System/*standards
Polymerase Chain Reaction/*methods
Respiratory Tract Infections/*diagnosis
Viruses/*isolation & purification
DNA, Complementary/genetics ; DNA, Viral/analysis ; High-Throughput Nucleotide Sequencing ; RNA, Ribosomal/genetics ; Respiratory Tract Infections/virology ; Sensitivity and Specificity ; Viral Load/methods ; Viruses/genetics

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 42.

Tytuł:

Deep sequencing whole transcriptome exploration of the σE regulon in Neisseria meningitidis.

Autorzy:

Huis in 't Veld RA; Department of Medical Microbiology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, Amsterdam, The Netherlands. />Willemsen AM
van Kampen AH
Bradley EJ
Baas F
Pannekoek Y
van der Ende A

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Źródło:

PloS one [PLoS One] 2011; Vol. 6 (12), pp. e29002. Date of Electronic Publication: 2011 Dec 15.

Typ publikacji:

Journal Article

MeSH Terms:

High-Throughput Nucleotide Sequencing/*methods
Neisseria meningitidis/*genetics
Regulon/*genetics
Sigma Factor/*genetics
Transcriptome/*genetics
Base Sequence ; DNA, Intergenic/genetics ; Gene Expression Profiling ; Gene Expression Regulation, Bacterial ; Genes, Bacterial/genetics ; Genetic Loci/genetics ; Humans ; Molecular Sequence Data ; Nucleic Acid Conformation ; Operon/genetics ; RNA, Antisense/genetics ; RNA, Bacterial/chemistry ; RNA, Bacterial/genetics ; Transcription, Genetic ; Up-Regulation/genetics

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 43.

Tytuł:

Initial steps towards a production platform for DNA sequence analysis on the grid.

Autorzy:

Luyf AC; Bioinformatics Laboratory, Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, PO Box 22700, 1100 DE Amsterdam, The Netherlands.
van Schaik BD
de Vries M
Baas F
van Kampen AH
Olabarriaga SD

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Źródło:

BMC bioinformatics [BMC Bioinformatics] 2010 Dec 14; Vol. 11, pp. 598. Date of Electronic Publication: 2010 Dec 14.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Computational Biology/*methods
Information Storage and Retrieval/*methods
Sequence Analysis, DNA/*methods
Computer Systems ; High-Throughput Nucleotide Sequencing/methods ; Sequence Alignment ; Software ; Workflow

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 44.

Tytuł:

Which patient will feel down, which will be happy? The need to study the genetic disposition of emotional states.

Autorzy:

Sprangers MA; Department of Medical Psychology/J3-211, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands. />Bartels M
Veenhoven R
Baas F
Martin NG
Mosing M
Movsas B
Ropka ME
Shinozaki G
Swaab D

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Corporate Authors:

GENEQOL Consortium

Źródło:

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2010 Dec; Vol. 19 (10), pp. 1429-37. Date of Electronic Publication: 2010 Apr 24.

Typ publikacji:

Journal Article; Review

MeSH Terms:

Emotions*/physiology
Personal Satisfaction*
Personality/*genetics
Quality of Life/*psychology
Depressive Disorder/genetics ; Depressive Disorder/physiopathology ; Happiness ; Humans ; Hypothalamo-Hypophyseal System ; Personality/physiology ; Pituitary-Adrenal System ; Self Concept

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 45.

Tytuł:

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.

Autorzy:

Weterman MA; Neurogenetics Lab, Department of Neurogenetics K2-213, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. />van Ruissen F
de Wissel M
Bordewijk L
Samijn JP
van der Pol WL
Meggouh F
Baas F

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Źródło:

European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Apr; Vol. 18 (4), pp. 421-8. Date of Electronic Publication: 2009 Nov 04.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Charcot-Marie-Tooth Disease/*genetics
Gene Dosage/*genetics
Genetic Variation/*genetics
Microtubule Proteins/*genetics
Myelin Proteins/*metabolism
Adult ; Blotting, Southern ; Chromosome Segregation ; Comparative Genomic Hybridization ; Female ; Gene Duplication ; Haplotypes ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Myelin Proteins/genetics ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Young Adult

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 46.

Tytuł:

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

Autorzy:

Hantke J; Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.
Chandler D
King R
Wanders RJ
Angelicheva D
Tournev I
McNamara E
Kwa M
Guergueltcheva V
Kaneva R
Baas F
Kalaydjieva L

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Źródło:

European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Dec; Vol. 17 (12), pp. 1606-14. Date of Electronic Publication: 2009 Jun 17.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Alternative Splicing/*genetics
Exons/*genetics
Hereditary Sensory and Motor Neuropathy/*enzymology
Hereditary Sensory and Motor Neuropathy/*genetics
Mutation/*genetics
Protein Biosynthesis/*genetics
5' Untranslated Regions/genetics ; Animals ; Hereditary Sensory and Motor Neuropathy/physiopathology ; Hexokinase/genetics ; Humans ; Immunohistochemistry ; Mice ; Nervous System Physiological Phenomena ; Peripheral Nerves/pathology ; Peripheral Nerves/physiopathology ; Physical Chromosome Mapping

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 47.

Tytuł:

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial.

Autorzy:

Verhamme C; Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD, Amsterdam, The Netherlands. />de Haan RJ
Vermeulen M
Baas F
de Visser M
van Schaik IN

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Źródło:

BMC medicine [BMC Med] 2009 Nov 12; Vol. 7, pp. 70. Date of Electronic Publication: 2009 Nov 12.

Typ publikacji:

Clinical Trial, Phase II; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

MeSH Terms:

Ascorbic Acid/*adverse effects
Ascorbic Acid/*therapeutic use
Charcot-Marie-Tooth Disease/*drug therapy
Vitamins/*adverse effects
Vitamins/*therapeutic use
Administration, Oral ; Adolescent ; Ascorbic Acid/administration & dosage ; Double-Blind Method ; Female ; Humans ; Male ; Median Nerve/physiology ; Muscle Strength/drug effects ; Neural Conduction/physiology ; Placebos/administration & dosage ; Sensation/physiology ; Severity of Illness Index ; Treatment Outcome ; Vitamins/administration & dosage ; Young Adult

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 48.

Tytuł:

Allele-specific cancer cell killing in vitro and in vivo targeting a single-nucleotide polymorphism in POLR2A.

Autorzy:

Mook OR; Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands. />Baas F
de Wissel MB
Fluiter K

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Źródło:

Cancer gene therapy [Cancer Gene Ther] 2009 Jun; Vol. 16 (6), pp. 532-8. Date of Electronic Publication: 2009 Jan 23.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Alleles*
Polymorphism, Single Nucleotide*
RNA Interference*
Neoplasms/*therapy
RNA Polymerase II/*genetics
Animals ; Cell Line, Tumor ; Female ; Genetic Therapy ; Genotype ; Humans ; Loss of Heterozygosity ; Male ; Mice ; Mice, Inbred Strains ; Neoplasms/genetics ; Neoplasms/metabolism ; RNA, Messenger/metabolism ; RNA, Small Interfering/genetics ; Transfection

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 49.

Tytuł:

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Autorzy:

Budde BS; Cologne Center for Genomics and Institute for Genetics, University of Cologne, Cologne, Germany.
Namavar Y
Barth PG
Poll-The BT
Nürnberg G
Becker C
van Ruissen F
Weterman MA
Fluiter K
te Beek ET
Aronica E
van der Knaap MS
Höhne W
Toliat MR
Crow YJ
Steinling M
Voit T
Roelenso F
Brussel W
Brockmann K
Kyllerman M
Boltshauser E
Hammersen G
Willemsen M
Basel-Vanagaite L
Krägeloh-Mann I
de Vries LS
Sztriha L
Muntoni F
Ferrie CD
Battini R
Hennekam RC
Grillo E
Beemer FA
Stoets LM
Wollnik B
Nürnberg P
Baas F

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Źródło:

Nature genetics [Nat Genet] 2008 Sep; Vol. 40 (9), pp. 1113-8.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Mutation*
Cerebellum/*abnormalities
Endoribonucleases/*genetics
Pons/*abnormalities
Brain/metabolism ; Chromosome Mapping ; Chromosomes, Human, Pair 17 ; Humans ; Models, Molecular ; Polymorphism, Single Nucleotide ; Syndrome

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 50.

Tytuł:

Genetic variation in COMT and PRODH is associated with brain anatomy in patients with schizophrenia.

Autorzy:

Zinkstok J; Department of Psychiatry, Academic Medical Center, University of Amsterdam, The Netherlands. />Schmitz N
van Amelsvoort T
Moeton M
Baas F
Linszen D

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Źródło:

Genes, brain, and behavior [Genes Brain Behav] 2008 Feb; Vol. 7 (1), pp. 61-9. Date of Electronic Publication: 2007 May 14.

Typ publikacji:

Journal Article

MeSH Terms:

Catechol O-Methyltransferase/*genetics
Genetic Variation/*genetics
Proline Oxidase/*genetics
Psychotic Disorders/*genetics
Schizophrenia/*genetics
Adult ; Alleles ; Cerebral Cortex/pathology ; Chromosomes, Human, Pair 22 ; DNA Mutational Analysis ; Dominance, Cerebral/genetics ; Epistasis, Genetic ; Female ; Gene Frequency/genetics ; Genetic Carrier Screening ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Image Processing, Computer-Assisted ; Magnetic Resonance Imaging ; Male ; Polymorphism, Single Nucleotide/genetics ; Psychotic Disorders/diagnosis ; Psychotic Disorders/pathology ; Schizophrenia/diagnosis ; Schizophrenia/pathology

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 51.

Tytuł:

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

Autorzy:

Ammerlaan AC; Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands.
Ararou A
Houben MP
Baas F
Tijssen CC
Teepen JL
Wesseling P
Hulsebos TJ

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Źródło:

British journal of cancer [Br J Cancer] 2008 Jan 29; Vol. 98 (2), pp. 474-9. Date of Electronic Publication: 2007 Dec 18.

Typ publikacji:

Case Reports; Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Family*
Genetic Predisposition to Disease*
Germ-Line Mutation*
Inheritance Patterns*
Penetrance*
Chromosomal Proteins, Non-Histone/*genetics
DNA-Binding Proteins/*genetics
Rhabdoid Tumor/*genetics
Transcription Factors/*genetics
Adolescent ; Adult ; Base Sequence ; Child, Preschool ; Chromosomes, Human, Pair 22 ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Male ; Microsatellite Repeats/genetics ; Pedigree ; Rhabdoid Tumor/mortality ; SMARCB1 Protein ; Sex Characteristics ; Survival Analysis ; Syndrome ; Time Factors

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 52.

Tytuł:

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.

Autorzy:

van Es MA; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
van Vught PW
Blauw HM
Franke L
Saris CG
Van den Bosch L
de Jong SW
de Jong V
Baas F
van't Slot R
Lemmens R
Schelhaas HJ
Birve A
Sleegers K
Van Broeckhoven C
Schymick JC
Traynor BJ
Wokke JH
Wijmenga C
Robberecht W
Andersen PM
Veldink JH
Ophoff RA
van den Berg LH

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Źródło:

Nature genetics [Nat Genet] 2008 Jan; Vol. 40 (1), pp. 29-31. Date of Electronic Publication: 2007 Dec 16.

Typ publikacji:

Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

MeSH Terms:

Genetic Predisposition to Disease*
Amyotrophic Lateral Sclerosis/*genetics
Nerve Tissue Proteins/*genetics
Peptide Hydrolases/*genetics
Potassium Channels/*genetics
Case-Control Studies ; Chromosomes, Human, Pair 7 ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases ; Humans ; Polymorphism, Single Nucleotide ; White People/genetics

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 53.

Tytuł:

Rab6 is increased in Alzheimer's disease brain and correlates with endoplasmic reticulum stress.

Autorzy:

Scheper W; Neurogenetics Laboratory, Academic Medical Center, Amsterdam, The Netherlands. />Hoozemans JJ
Hoogenraad CC
Rozemuller AJ
Eikelenboom P
Baas F

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Źródło:

Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2007 Oct; Vol. 33 (5), pp. 523-32. Date of Electronic Publication: 2007 Jun 15.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Alzheimer Disease/*metabolism
Alzheimer Disease/*pathology
Brain/*metabolism
Endoplasmic Reticulum/*pathology
rab GTP-Binding Proteins/*biosynthesis
Adult ; Aged ; Aged, 80 and over ; Blotting, Western ; Brain/pathology ; Female ; Humans ; Immunohistochemistry ; Male ; Neurofibrillary Tangles/metabolism ; Neurofibrillary Tangles/pathology ; Plaque, Amyloid/metabolism ; Plaque, Amyloid/pathology ; tau Proteins/metabolism

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 54.

Tytuł:

Evaluation of the similarity of gene expression data estimated with SAGE and Affymetrix GeneChips.

Autorzy:

van Ruissen F; Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. f. />Ruijter JM
Schaaf GJ
Asgharnegad L
Zwijnenburg DA
Kool M
Baas F

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Źródło:

BMC genomics [BMC Genomics] 2005 Jun 14; Vol. 6, pp. 91. Date of Electronic Publication: 2005 Jun 14.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Gene Expression Regulation*
Molecular Probe Techniques*
Oligonucleotide Array Sequence Analysis/*methods
Cell Line, Tumor ; Cluster Analysis ; DNA Probes ; DNA, Complementary ; Gene Expression ; Humans ; Microarray Analysis ; RNA/metabolism ; RNA, Complementary/metabolism ; RNA, Messenger/metabolism ; RNA, Neoplasm/metabolism ; Reproducibility of Results ; Sensitivity and Specificity

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 55.

Tytuł:

The Phox2B homeobox gene is mutated in sporadic neuroblastomas.

Autorzy:

van Limpt V; Department of Human Genetics, Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands.
Schramm A
van Lakeman A
Sluis P
Chan A
van Noesel M
Baas F
Caron H
Eggert A
Versteeg R

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Źródło:

Oncogene [Oncogene] 2004 Dec 09; Vol. 23 (57), pp. 9280-8.

Typ publikacji:

Journal Article

MeSH Terms:

Genes, Homeobox*
Mutation*
Homeodomain Proteins/*genetics
Nerve Tissue Proteins/*genetics
Neuroblastoma/*genetics
Transcription Factors/*genetics
Alleles ; Base Sequence ; DNA, Neoplasm/genetics ; Dopamine beta-Hydroxylase/genetics ; Humans ; Molecular Sequence Data ; Receptor, trkA/genetics ; Tumor Cells, Cultured

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 56.

Tytuł:

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.

Autorzy:

Varon R; Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany.
Gooding R
Steglich C
Marns L
Tang H
Angelicheva D
Yong KK
Ambrugger P
Reinhold A
Morar B
Baas F
Kwa M
Tournev I
Guerguelcheva V
Kremensky I
Lochmüller H
Müllner-Eidenböck A
Merlini L
Neumann L
Bürger J
Walter M
Swoboda K
Thomas PK
von Moers A
Risch N
Kalaydjieva L

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Źródło:

Nature genetics [Nat Genet] 2003 Oct; Vol. 35 (2), pp. 185-9. Date of Electronic Publication: 2003 Sep 21.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Chromosomes, Human, Pair 18*
Cataract/*genetics
Face/*abnormalities
Nervous System Diseases/*genetics
Phosphoprotein Phosphatases/*genetics
RNA Polymerase II/*genetics
Amino Acid Sequence ; Base Sequence ; Binding Sites ; Cataract/congenital ; Chromosome Mapping ; Conserved Sequence ; Genes, Recessive ; Humans ; Introns ; Molecular Sequence Data ; Phosphoprotein Phosphatases/metabolism ; Point Mutation ; Polymerase Chain Reaction ; RNA Polymerase II/chemistry ; RNA Polymerase II/metabolism ; Roma/genetics ; Syndrome

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 57.

Tytuł:

The involvement of human ribonucleases H1 and H2 in the variation of response of cells to antisense phosphorothioate oligonucleotides.

Autorzy:

ten Asbroek AL; Neurozintuigen Laboratory, Academic Medical Center, Amsterdam, the Netherlands.
van Groenigen M
Nooij M
Baas F

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Źródło:

European journal of biochemistry [Eur J Biochem] 2002 Jan; Vol. 269 (2), pp. 583-92.

Typ publikacji:

Journal Article

MeSH Terms:

Oligonucleotides, Antisense/*administration & dosage
Ribonuclease H/*metabolism
Thionucleotides/*administration & dosage
Cell Line ; Humans ; Organophosphorus Compounds/chemistry ; Plasmids ; RNA, Messenger/genetics ; Ribonuclease H/genetics ; Thionucleotides/chemistry ; Transfection

Czasopismo naukowe

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Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 58.

Tytuł:

The human transcriptome map: clustering of highly expressed genes in chromosomal domains.

Autorzy:

Caron H; Department of Human Genetics, Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Post Office Box 22700, 1100 DE Amsterdam, Netherlands.
van Schaik B
van der Mee M
Baas F
Riggins G
van Sluis P
Hermus MC
van Asperen R
Boon K
Voûte PA
Heisterkamp S
van Kampen A
Versteeg R

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Źródło:

Science (New York, N.Y.) [Science] 2001 Feb 16; Vol. 291 (5507), pp. 1289-92.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Gene Expression*
Genome, Human*
Physical Chromosome Mapping*
Chromosomes, Human/*genetics
Neoplasms/*genetics
RNA, Messenger/*genetics
Algorithms ; Databases, Factual ; Gene Expression Profiling ; Gene Library ; Gene Silencing ; Humans ; Multigene Family ; Software ; Transcription, Genetic

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 59.

Tytuł:

Mutations in ABCC6 cause pseudoxanthoma elasticum.

Autorzy:

Bergen AA; The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands. />Plomp AS
Schuurman EJ
Terry S
Breuning M
Dauwerse H
Swart J
Kool M
van Soest S
Baas F
ten Brink JB
de Jong PT

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Źródło:

Nature genetics [Nat Genet] 2000 Jun; Vol. 25 (2), pp. 228-31.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

ATP-Binding Cassette Transporters/*genetics
Mutation/*genetics
Pseudoxanthoma Elasticum/*genetics
ATP-Binding Cassette Transporters/chemistry ; Base Sequence ; Chromosome Mapping ; Chromosomes, Human, Pair 16/genetics ; DNA Mutational Analysis ; Exons/genetics ; Female ; Gene Expression Profiling ; Genes, Dominant/genetics ; Genes, Recessive/genetics ; Homozygote ; Humans ; Male ; Molecular Sequence Data ; Multidrug Resistance-Associated Proteins ; Pedigree ; Pseudoxanthoma Elasticum/pathology ; RNA, Messenger/analysis ; RNA, Messenger/genetics ; Sequence Deletion/genetics

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 60.

Tytuł:

A tale of tags: report on a HUGO/EU SAGE workshop, 29 January-1 February 1999, Hilversum, The Netherlands.

Autorzy:

Baas F; Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Tabak HF

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Źródło:

European journal of human genetics : EJHG [Eur J Hum Genet] 1999 May-Jun; Vol. 7 (4), pp. 510-2.

Typ publikacji:

Congress

MeSH Terms:

Gene Expression*
Genetic Techniques*
RNA, Messenger/*genetics
RNA, Messenger/*metabolism
Animals ; Humans ; Transcription, Genetic

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 61.

Tytuł:

An integrated map of chromosome 18 CAG trinucleotide repeat loci.

Autorzy:

Grierson AJ; Department of Neurology, University of Amsterdam, Academic Medical Center, The Netherlands.
van Groenigen M
Groot NP
Lindblad K
Hoovers JM
Schalling M
de Belleroche J
Baas F

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Źródło:

European journal of human genetics : EJHG [Eur J Hum Genet] 1999 Jan; Vol. 7 (1), pp. 12-9.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Chromosome Mapping*
Chromosomes, Human, Pair 18*
Trinucleotide Repeats*
Base Sequence ; DNA Primers ; Humans ; Hybrid Cells ; Mental Disorders/genetics ; Sequence Homology, Nucleic Acid ; Sequence Tagged Sites

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 62.

Tytuł:

The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene.

Autorzy:

Meijerink PH; Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands. />Yanakiev P
Zorn I
Grierson AJ
Bikker H
Dye D
Kalaydjieva L
Baas F

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Źródło:

European journal of biochemistry [Eur J Biochem] 1998 Jun 01; Vol. 254 (2), pp. 297-303.

Typ publikacji:

Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Adaptor Proteins, Signal Transducing*
Proto-Oncogene Proteins pp60(c-src)/*genetics
Thyroglobulin/*genetics
Alternative Splicing ; Amino Acid Sequence ; Animals ; Base Sequence ; Chromosome Mapping ; Chromosomes, Human, Pair 8/genetics ; Cloning, Molecular ; DNA Primers/genetics ; DNA, Complementary/genetics ; Exons ; Gene Expression ; Hereditary Sensory and Motor Neuropathy/genetics ; Humans ; Introns ; Mice ; Molecular Sequence Data ; Polymerase Chain Reaction ; Species Specificity

Czasopismo naukowe

• na półce

Pełny tekst  Link otwiera się w nowym oknieSzczegóły

Skocz do pozycji: 63.

Tytuł:

Allelotype of pediatric rhabdomyosarcoma.

Autorzy:

Visser M; Department of Pediatric Oncology, Academic Medical Center, Amsterdam, The Netherlands.
Sijmons C
Bras J
Arceci RJ
Godfried M
Valentijn LJ
Voûte PA
Baas F

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Źródło:

Oncogene [Oncogene] 1997 Sep; Vol. 15 (11), pp. 1309-14.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 16*
Heterozygote*
Rhabdomyosarcoma/*genetics
Alleles ; Animals ; Genes, Tumor Suppressor ; Genetic Markers ; Humans ; Mice ; Rhabdomyosarcoma, Embryonal/genetics

Czasopismo naukowe

• na półce

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Skocz do pozycji: 64.

Tytuł:

De-novo mutation in hereditary motor and sensory neuropathy type I.

Autorzy:

Hoogendijk JE; Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Hensels GW
Gabreëls-Festen AA
Gabreëls FJ
Janssen EA
de Jonghe P
Martin JJ
van Broeckhoven C
Valentijn LJ
Baas F
et. al.

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Źródło:

Lancet (London, England) [Lancet] 1992 May 02; Vol. 339 (8801), pp. 1081-2.

Typ publikacji:

Journal Article; Research Support, Non-U.S. Gov't

MeSH Terms:

Chromosomes, Human, 16-18*
Charcot-Marie-Tooth Disease/*genetics
Chromosome Aberrations/*diagnosis
Adolescent ; Adult ; Child ; Chromosome Disorders ; Female ; Humans ; Male ; Multigene Family/genetics ; Mutation

Czasopismo naukowe

• na półce

Pełny tekstSzczegóły