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Tytuł:
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene ( DMD ).
Autorzy:
Gonçalves A; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.; Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS) e Laboratório Para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Universidade do Porto, 4050-313 Porto, Portugal.
Fortuna A; Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS) e Laboratório Para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Universidade do Porto, 4050-313 Porto, Portugal.; Unidade de Genética Médica, Centro de Genética Médica Douto Jacinto Magalhães, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.
Ariyurek Y; Leiden Genome Technology Center, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Oliveira ME; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.; Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS) e Laboratório Para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Universidade do Porto, 4050-313 Porto, Portugal.
Nadais G; Serviço de Neurologia, Centro Hospitalar de São João, 4200-319 Porto, Portugal.
Pinheiro J; Serviço de Anatomia Patológica, Centro Hospitalar de São João, 4200-319 Porto, Portugal.
den Dunnen JT; Leiden Genome Technology Center, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.; Departments of Human Genetics and Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Sousa M; Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS) e Laboratório Para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Universidade do Porto, 4050-313 Porto, Portugal.; Departamento de Microscopia, Laboratório de Biologia Celular, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, 4050-313 Porto, Portugal.
Oliveira J; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.; Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS) e Laboratório Para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Universidade do Porto, 4050-313 Porto, Portugal.
Santos R; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.; Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS) e Laboratório Para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Universidade do Porto, 4050-313 Porto, Portugal.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 22; Vol. 23 (1). Date of Electronic Publication: 2021 Dec 22.
Typ publikacji:
Case Reports
MeSH Terms:
Dystrophin/*genetics
Genome/*genetics
Muscular Dystrophy, Duchenne/*diagnosis
Muscular Dystrophy, Duchenne/*genetics
Adult ; Base Sequence ; Exons/genetics ; Genetics ; Humans ; Male ; Whole Genome Sequencing/methods ; Young Adult
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.
Autorzy:
Beckers P; Biochemical Genetics Laboratory, Human Genetic Department, CHU de Liège, Université de Liège, CHU Sart-Tilman, Domaine Universitaire du Sart-Tilman, Avenue de l'Hôpital, 1, 4000, Liège, Belgium.
Caberg JH; Molecular Genetics Laboratory, Human Genetic Department, CHU Sart-Tilman, University of Liege, Liège, Belgium.
Dideberg V; Molecular Genetics Laboratory, Human Genetic Department, CHU Sart-Tilman, University of Liege, Liège, Belgium.
Dangouloff T; Division of Child Neurology, Neuromuscular Reference Center Disease, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium.
den Dunnen JT; Department of Human Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bours V; Head of Human Genetics Department, CHU Sart-Tilman, University of Liege, Liège, Belgium.
Servais L; Division of Child Neurology, Neuromuscular Reference Center Disease, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium.; Department of Paediatrics, MDUK Neuromuscular Center, University of Oxford, Oxford, UK.
Boemer F; Biochemical Genetics Laboratory, Human Genetic Department, CHU de Liège, Université de Liège, CHU Sart-Tilman, Domaine Universitaire du Sart-Tilman, Avenue de l'Hôpital, 1, 4000, Liège, Belgium. .
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Źródło:
Scientific reports [Sci Rep] 2021 Feb 04; Vol. 11 (1), pp. 3011. Date of Electronic Publication: 2021 Feb 04.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Dystrophin/*genetics
Genetic Therapy/*trends
Muscular Dystrophy, Duchenne/*genetics
Dried Blood Spot Testing ; Exons/genetics ; Female ; Genotype ; Humans ; Infant, Newborn ; Male ; Muscular Dystrophy, Duchenne/pathology ; Muscular Dystrophy, Duchenne/therapy ; Oligonucleotides, Antisense ; Sequence Deletion/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Autorzy:
Le Roux B; Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Lenaers G; Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.
Zanlonghi X; Centre de Compétence Maladie Rare, Clinique Jules Verne, Nantes, France.
Amati-Bonneau P; Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.; Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France.
Chabrun F; Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.; Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France.
Foulonneau T; Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.
Caignard A; Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Leruez S; Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Gohier P; Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Procaccio V; Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.; Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France.
Milea D; Singapore National Eye Center, Singapore Eye Research Institute, Duke-NUS, Singapore, Singapore.
den Dunnen JT; Human Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Reynier P; Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.; Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France.
Ferré M; Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Sep 10; Vol. 14 (1), pp. 214. Date of Electronic Publication: 2019 Sep 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Optic Atrophy, Autosomal Dominant/*genetics
GTP Phosphohydrolases/genetics ; Genetic Association Studies ; Humans ; Mutation/genetics ; Pedigree ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
Autorzy:
Cline MS; University of California Santa Cruz Genomics Institute, University of California, Santa Cruz, California, United States of America.
Liao RG; Broad Institute, Cambridge, Massachusetts, United States of America.
Parsons MT; Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Paten B; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, California, United States of America.
Alquaddoomi F; Department of Computer Science, Biomedical Informatics Group Universitätsstrasse, Zürich, Switzerland.; Biomedical Informatics, University Hospital Zurich, Zurich, Switzerland.; Biocybernetics Laboratory, Computer Science Department, University of California, Los Angeles, California, United States of America.
Antoniou A; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Baxter S; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, California, United States of America.
Brody L; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.
Cook-Deegan R; School for the Future of Innovation in Society, and Consortium for Science, Policy & Outcomes, Arizona State University, Tempe, Arizona, United States of America.
Coffin A; University of California Santa Cruz Genomics Institute, University of California, Santa Cruz, California, United States of America.
Couch FJ; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
Craft B; University of California Santa Cruz Genomics Institute, University of California, Santa Cruz, California, United States of America.
Currie R; University of California Santa Cruz Genomics Institute, University of California, Santa Cruz, California, United States of America.
Dlott CC; University of California Santa Cruz Genomics Institute, University of California, Santa Cruz, California, United States of America.
Dolman L; The Global Alliance for Genomics and Health, Toronto, Ontario, Canada.
den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Dyke SOM; Centre of Genomics and Policy, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Domchek SM; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Easton D; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Fischmann Z; University of California Santa Cruz Genomics Institute, University of California, Santa Cruz, California, United States of America.
Foulkes WD; Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montréal, Quebec, Canada.
Garber J; Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, United States of America.
Goldgar D; Huntsman Cancer Institute and Department of Dermatology, University of Utah, Salt Lake City, Utah, United States of America.
Goldman MJ; University of California Santa Cruz Genomics Institute, University of California, Santa Cruz, California, United States of America.
Goodhand P; The Global Alliance for Genomics and Health, Toronto, Ontario, Canada.
Harrison S; Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School, Boston, Massachusetts, United States of America.
Haussler D; University of California Santa Cruz Genomics Institute, University of California, Santa Cruz, California, United States of America.; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, California, United States of America.
Kato K; Graduate School of Medicine, Osaka University, Osaka, Japan.
Knoppers B; Centre of Genomics and Policy, Faculty of Medicine, Human Genetics, McGill University, Montreal, Québec, Canada.
Markello C; University of California Santa Cruz Genomics Institute, University of California, Santa Cruz, California, United States of America.; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, California, United States of America.; Center for Biomolecular Science & Engineering, University of California, Santa Cruz, California, United States of America.
Nussbaum R; Invitae, San Francisco, California, United States of America.
Offit K; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America.
Plon SE; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Rashbass J; National Disease Registration, National Cancer Registration and Analysis Service, Public Health England, London, United Kingdom.
Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts, United States of America.; Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Robson M; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America.
Rubinstein WS; CancerLinQ at American Society of Clinical Oncology (ASCO), Alexandria, Virginia, United States of America.
Stoppa-Lyonnet D; Institut Curie, Cancer Genetic Clinic, Paris, France.
Tavtigian S; Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School, Boston, Massachusetts, United States of America.; Department of Oncological Sciences, The University of Utah, Salt Lake City, Utah, United States of America.
Thorogood A; The Global Alliance for Genomics and Health, Toronto, Ontario, Canada.; Centre of Genomics and Policy, McGill University, Montreal, Canada.
Zhang C; Department of Computer Science, University of California, Santa Cruz, Santa Cruz, California, United States of America.
Zimmermann M; Department of Computer Science, Biomedical Informatics Group Universitätsstrasse, Zürich, Switzerland.; Biomedical Informatics, University Hospital Zurich, Zurich, Switzerland.
Burn J; Institute of Genetic Medicine, Newcastle University, Centre for Life, Newcastle upon Tyne, United Kingdom.
Chanock S; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America.
Rätsch G; Department of Computer Science, Biomedical Informatics Group Universitätsstrasse, Zürich, Switzerland.; Biomedical Informatics, University Hospital Zurich, Zurich, Switzerland.; Computational Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America.; Swiss Institute for Bioinformatics, Lausanne, Switzerland.
Spurdle AB; Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Australia.
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Corporate Authors:
BRCA Challenge Authors
Źródło:
PLoS genetics [PLoS Genet] 2018 Dec 26; Vol. 14 (12), pp. e1007752. Date of Electronic Publication: 2018 Dec 26 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Databases, Genetic*/ethics
Genes, BRCA1*
Genes, BRCA2*
Genetic Variation*
Alleles ; Breast Neoplasms/genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Information Dissemination/ethics ; Information Dissemination/legislation & jurisprudence ; Male ; Mutation ; Ovarian Neoplasms/genetics ; Penetrance ; Phenotype ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A dystrophic Duchenne mouse model for testing human antisense oligonucleotides.
Autorzy:
Veltrop M; Department of Human Genetics, Leiden University Medical Center, Leiden, RC, the Netherlands.
van Vliet L; Department of Human Genetics, Leiden University Medical Center, Leiden, RC, the Netherlands.
Hulsker M; Department of Human Genetics, Leiden University Medical Center, Leiden, RC, the Netherlands.
Claassens J; Transgenic Facility, Leiden University Medical Center, Leiden, RC, the Netherlands.
Brouwers C; Transgenic Facility, Leiden University Medical Center, Leiden, RC, the Netherlands.
Breukel C; Transgenic Facility, Leiden University Medical Center, Leiden, RC, the Netherlands.
van der Kaa J; Transgenic Facility, Leiden University Medical Center, Leiden, RC, the Netherlands.
Linssen MM; Transgenic Facility, Leiden University Medical Center, Leiden, RC, the Netherlands.
den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, RC, the Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, RC, the Netherlands.
Verbeek S; Department of Human Genetics, Leiden University Medical Center, Leiden, RC, the Netherlands.; Transgenic Facility, Leiden University Medical Center, Leiden, RC, the Netherlands.
Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Center, Leiden, RC, the Netherlands.
van Putten M; Department of Human Genetics, Leiden University Medical Center, Leiden, RC, the Netherlands.
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Źródło:
PloS one [PLoS One] 2018 Feb 21; Vol. 13 (2), pp. e0193289. Date of Electronic Publication: 2018 Feb 21 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Base Sequence*
Dystrophin*/genetics
Dystrophin*/metabolism
Exons*
Oligodeoxyribonucleotides, Antisense*/genetics
Oligodeoxyribonucleotides, Antisense*/pharmacology
Sequence Deletion*
Animals ; Drug Evaluation, Preclinical ; Humans ; Mice ; Mice, Inbred mdx ; Mice, Transgenic ; Muscular Dystrophy, Duchenne/drug therapy ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/metabolism ; Muscular Dystrophy, Duchenne/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates.
Autorzy:
Schut MH; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Patassini S; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand.
Kim EH; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand.
Bullock J; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand.
Waldvogel HJ; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand.
Faull RLM; Centre for Brain Research and Department of Anatomy with Radiology, University of Auckland, Auckland, New Zealand.
Pepers BA; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
van Ommen GB; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Roon-Mom WMC; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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Źródło:
PloS one [PLoS One] 2017 Jun 01; Vol. 12 (6), pp. e0178556. Date of Electronic Publication: 2017 Jun 01 (Print Publication: 2017).
Typ publikacji:
Journal Article
MeSH Terms:
Brain/*metabolism
Huntingtin Protein/*metabolism
Huntington Disease/*pathology
3' Untranslated Regions ; Aged ; Aged, 80 and over ; Amino Acid Sequence ; Brain/pathology ; Case-Control Studies ; Cell Line ; Female ; HEK293 Cells ; Humans ; Huntington Disease/metabolism ; Male ; Middle Aged ; Open Reading Frames ; Postmortem Changes ; Sequence Homology, Amino Acid
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Autorzy:
Carrera P; IRCCS San Raffaele Scientific Institute, Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, Milan, Italy.; Laboratory of Clinical Molecular Biology, Ospedale San Raffaele, Milan, Italy.
Calzavara S; Laboratory of Clinical Molecular Biology, Ospedale San Raffaele, Milan, Italy.
Magistroni R; IRCCS San Raffaele Scientific Institute, Division of Genetics and Cell biology, Molecular Basis of Polycystic Kidney Disease Unit, Milan, Italy.; Division of Nephrology and Dialysis A.O. U. Policlinico, University of Modena and Reggio Emilia, Modena, Italy.
den Dunnen JT; Depts. Clinical Genetics and Human Genetics, Leiden University Medical Centre, Netherlands.
Rigo F; IRCCS San Raffaele Scientific Institute, Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, Milan, Italy.
Stenirri S; IRCCS San Raffaele Scientific Institute, Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, Milan, Italy.
Testa F; Division of Nephrology and Dialysis A.O. U. Policlinico, University of Modena and Reggio Emilia, Modena, Italy.
Messa P; Dept. of Nephrology, Urology and Transplant, IRCCS Cà Granda Policlinico, Milan, Italy.
Cerutti R; Dept. of Nephrology, Urology and Transplant, IRCCS Cà Granda Policlinico, Milan, Italy.
Scolari F; Center for Prenatal Diagnosis and Nephrology, A.O. Spedali Civili, Brescia, Italy.
Izzi C; Center for Prenatal Diagnosis and Nephrology, A.O. Spedali Civili, Brescia, Italy.
Edefonti A; Dept. of Paediatric Nephrology and Dialysis, IRCCS Cà Granda Policlinico, Milan, Italy.
Negrisolo S; Laboratory of Immunopathology and Molecular Biology of the Kidney, Dept. SDB, Padova, Italy.
Benetti E; Pediatric Nephrology, Dialysis and Transplant Unit; Department of Women's and Children's Health, Padova, Italy.
Alibrandi MT; Vita-Salute San Raffaele University, chair of Nephrology, IRCCS Ran Raffaele Scientific Institute, Genomics of Renal Disease and Hypertension Unit, Milan, Italy.
Manunta P; Vita-Salute San Raffaele University, chair of Nephrology, IRCCS Ran Raffaele Scientific Institute, Genomics of Renal Disease and Hypertension Unit, Milan, Italy.
Boletta A; IRCCS San Raffaele Scientific Institute, Division of Genetics and Cell biology, Molecular Basis of Polycystic Kidney Disease Unit, Milan, Italy.
Ferrari M; IRCCS San Raffaele Scientific Institute, Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, Milan, Italy.; Laboratory of Clinical Molecular Biology, Ospedale San Raffaele, Milan, Italy.; Vita-Salute San Raffaele University, chair of Clinical Pathology, Milan, Italy.
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Źródło:
Scientific reports [Sci Rep] 2016 Aug 08; Vol. 6, pp. 30850. Date of Electronic Publication: 2016 Aug 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Polycystic Kidney, Autosomal Dominant/*genetics
TRPP Cation Channels/*genetics
Adolescent ; Adult ; Alleles ; Base Sequence ; Cohort Studies ; Female ; Gene Frequency ; Humans ; Italy/epidemiology ; Kidney/diagnostic imaging ; Kidney/pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation, Missense ; Pedigree ; Polycystic Kidney, Autosomal Dominant/epidemiology ; Polycystic Kidney, Autosomal Dominant/pathology ; Polymorphism, Genetic ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.
Autorzy:
Savige J; The University of Melbourne, Melbourne Health, Melbourne, Australia. .; Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, 3050, Australia. .
Dalgleish R; Department of Genetics, University of Leicester, Leicester, UK.
Cotton RG; Human Variome Project, The University of Melbourne, Melbourne, Australia.
den Dunnen JT; Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Macrae F; The University of Melbourne, Melbourne Health, Melbourne, Australia.; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Australia.
Povey S; Research Department of Genetics, Evolution and Environment, University College London, London, UK.
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Źródło:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2015 Nov; Vol. 30 (11), pp. 1893-901. Date of Electronic Publication: 2014 Nov 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Databases, Nucleic Acid/*standards
Kidney Diseases/*genetics
Genetic Predisposition to Disease/genetics ; Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.
Autorzy:
Mastrokolias A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Ariyurek Y; Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
Goeman JJ; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands.; Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands.
van Duijn E; Department of Psychiatry, Leiden University Medical Center, Leiden, The Netherlands.; Center for Mental Health Care Delfland, Jorisweg 2, Delft, The Netherlands.
Roos RA; Department of Neurology, Leiden University Medical Centre, RC, Leiden, The Netherlands.
van der Mast RC; Department of Psychiatry, Leiden University Medical Center, Leiden, The Netherlands.
van Ommen GB; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
't Hoen PA; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Roon-Mom WM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Oct; Vol. 23 (10), pp. 1349-56. Date of Electronic Publication: 2015 Jan 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Biomarkers/*metabolism
Huntington Disease/*genetics
Transcriptome/*genetics
Adult ; Aged ; Case-Control Studies ; Disease Progression ; Female ; Gene Expression Profiling/methods ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Male ; MicroRNAs/genetics ; Middle Aged ; Mutation/genetics ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Autorzy:
Romanelli Tavares VL; Centro de Pesquisas do Genoma Humano e Células Tronco, Departamento de Genetica e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Gordon CT; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
Zechi-Ceide RM; Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, Brazil.
Kokitsu-Nakata NM; Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, Brazil.
Voisin N; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Heggie AA; Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Melbourne, Victoria, Australia.
Vendramini-Pittoli S; Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, Brazil.
Propst EJ; Department of Otolaryngology - Head & Neck Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada.
Papsin BC; Department of Otolaryngology - Head & Neck Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada.
Torres TT; Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Buermans H; Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
Capelo LP; 1] Centro de Pesquisas do Genoma Humano e Células Tronco, Departamento de Genetica e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil [2] Instituto de Ciência e Tecnologia, Universidade Federal de São Paulo, São José dos Campos, Brazil.
den Dunnen JT; Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
Guion-Almeida ML; Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, Brazil.
Lyonnet S; 1] INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France [2] Département de Génétique, Hôpital Necker-Enfants Malades AP-HP, Paris, France.
Amiel J; 1] INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France [2] Département de Génétique, Hôpital Necker-Enfants Malades AP-HP, Paris, France.
Passos-Bueno MR; Centro de Pesquisas do Genoma Humano e Células Tronco, Departamento de Genetica e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Apr; Vol. 23 (4), pp. 481-5. Date of Electronic Publication: 2014 Jul 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Variation*
Ear/*abnormalities
Ear Diseases/*genetics
GTP-Binding Protein alpha Subunits, Gi-Go/*genetics
Branchial Region/metabolism ; Brazil ; Ear Diseases/diagnosis ; Female ; Humans ; Male ; Pedigree ; Phenotype ; Protein Conformation
SCR Disease Name:
Auriculo-condylar syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Selection and characterization of llama single domain antibodies against N-terminal huntingtin.
Autorzy:
Schut MH; Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Pepers BA
Klooster R
van der Maarel SM
El Khatabi M
Verrips T
den Dunnen JT
van Ommen GJ
van Roon-Mom WM
Pokaż więcej
Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2015 Mar; Vol. 36 (3), pp. 429-34. Date of Electronic Publication: 2014 Oct 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Antibodies, Monoclonal/*pharmacology
Huntington Disease/*therapy
Nerve Tissue Proteins/*analysis
Nerve Tissue Proteins/*immunology
Amino Acid Sequence ; Antibody Specificity ; Epitopes/immunology ; Escherichia coli ; Humans ; Huntingtin Protein ; Huntington Disease/immunology ; Molecular Sequence Data ; Protein Binding
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The genomic landscape of the verrucomicrobial methanotroph Methylacidiphilum fumariolicum SolV.
Autorzy:
Anvar SY; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
Frank J
Pol A
Schmitz A
Kraaijeveld K
den Dunnen JT
Op den Camp HJ
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Źródło:
BMC genomics [BMC Genomics] 2014 Oct 20; Vol. 15, pp. 914. Date of Electronic Publication: 2014 Oct 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genomics*
Verrucomicrobia/*genetics
Epigenesis, Genetic/genetics ; Genome, Bacterial/genetics ; Molecular Sequence Annotation ; Nucleotide Motifs/genetics ; Phylogeny
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
Autorzy:
de Vree PJ; 1] Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands. [2].
de Wit E; 1] Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands. [2] Cergentis B.V., Utrecht, the Netherlands. [3].
Yilmaz M; Cergentis B.V., Utrecht, the Netherlands.
van de Heijning M; Cergentis B.V., Utrecht, the Netherlands.
Klous P; Cergentis B.V., Utrecht, the Netherlands.
Verstegen MJ; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands.
Wan Y; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands.
Teunissen H; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands.
Krijger PH; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands.
Geeven G; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands.
Eijk PP; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands.
Sie D; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands.
Ylstra B; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands.
Hulsman LO; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
van Dooren MF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
van Zutven LJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
van den Ouweland A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
Verbeek S; 1] Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands. [2] Department of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands.
van Dijk KW; 1] Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands. [2] Department of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands.
Cornelissen M; Laboratory of Experimental Virology, Department of Medical Microbiology, Center for Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Das AT; Laboratory of Experimental Virology, Department of Medical Microbiology, Center for Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Berkhout B; Laboratory of Experimental Virology, Department of Medical Microbiology, Center for Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Sikkema-Raddatz B; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
van den Berg E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
van der Vlies P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Weening D; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
den Dunnen JT; Leiden Genome Technology Center, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Matusiak M; 1] Department of Medical Protein Research, VIB, Ghent, Belgium. [2] Department of Biochemistry, Ghent University, Ghent, Belgium.
Lamkanfi M; 1] Department of Medical Protein Research, VIB, Ghent, Belgium. [2] Department of Biochemistry, Ghent University, Ghent, Belgium.
Ligtenberg MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
ter Brugge P; Division of Molecular Pathology and Cancer Genomics Center, The Netherlands Cancer Institute, Amsterdam, the Netherlands.
Jonkers J; Division of Molecular Pathology and Cancer Genomics Center, The Netherlands Cancer Institute, Amsterdam, the Netherlands.
Foekens JA; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Rotterdam, the Netherlands.
Martens JW; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Rotterdam, the Netherlands.
van der Luijt R; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
van Amstel HK; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
van Min M; Cergentis B.V., Utrecht, the Netherlands.
Splinter E; Cergentis B.V., Utrecht, the Netherlands.
de Laat W; 1] Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands. [2] Cergentis B.V., Utrecht, the Netherlands.
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Źródło:
Nature biotechnology [Nat Biotechnol] 2014 Oct; Vol. 32 (10), pp. 1019-25. Date of Electronic Publication: 2014 Aug 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Models, Genetic*
Genomics/*methods
Haplotypes/*genetics
Nucleic Acid Amplification Techniques/*methods
Sequence Analysis, DNA/*methods
Gene Fusion/genetics ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Loci/genetics ; Humans ; Neoplasms/genetics ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Detecting authorized and unauthorized genetically modified organisms containing vip3A by real-time PCR and next-generation sequencing.
Autorzy:
Liang C; RIKILT Wageningen UR, P.O. Box 230, 6700 AE, Wageningen, The Netherlands.
van Dijk JP
Scholtens IM
Staats M
Prins TW
Voorhuijzen MM
da Silva AM
Arisi AC
den Dunnen JT
Kok EJ
Pokaż więcej
Źródło:
Analytical and bioanalytical chemistry [Anal Bioanal Chem] 2014 Apr; Vol. 406 (11), pp. 2603-11. Date of Electronic Publication: 2014 Feb 20.
Typ publikacji:
Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Agriculture/*legislation & jurisprudence
Bacterial Proteins/*genetics
Gossypium/*genetics
High-Throughput Nucleotide Sequencing/*methods
Plants, Genetically Modified/*genetics
Real-Time Polymerase Chain Reaction/*methods
Zea mays/*genetics
Food Contamination/legislation & jurisprudence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
Autorzy:
de Brouwer AP; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [3] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.
Nabuurs SB; Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.
Verhaart IE; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Oudakker AR; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.
Hordijk R; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Yntema HG; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Hordijk-Hos JM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Voesenek K; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
de Vries BB; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
van Essen T; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Chen W; Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin, Germany.
Hu H; Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin, Germany.
Chelly J; Institut Cochin, INSERM Unité 1016, CNRS UMR 8104, Paris, France.
den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kalscheuer VM; Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin, Germany.
Aartsma-Rus AM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Hamel BC; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
van Bokhoven H; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.
Kleefstra T; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [3] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Apr; Vol. 22 (4), pp. 480-5. Date of Electronic Publication: 2013 Jul 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Sequence Deletion*
Dystrophin/*genetics
Genetic Diseases, X-Linked/*genetics
Intellectual Disability/*genetics
Adult ; Aged ; Base Pairing ; Cells, Cultured ; Dystroglycans/genetics ; Exons ; Genetic Loci ; Genotype ; Humans ; Lod Score ; Male ; Muscular Dystrophies/genetics ; Mutation ; Pedigree ; Protein Conformation ; RNA, Messenger/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Autorzy:
Logan CV
Szabadkai G
Sharpe JA
Parry DA
Torelli S
Childs AM
Kriek M
Phadke R
Johnson CA
Roberts NY
Bonthron DT
Pysden KA
Whyte T
Munteanu I
Foley AR
Wheway G
Szymanska K
Natarajan S
Abdelhamed ZA
Morgan JE
Roper H
Santen GW
Niks EH
van der Pol WL
Lindhout D
Raffaello A
De Stefani D
den Dunnen JT
Sun Y
Ginjaar I
Sewry CA
Hurles M
Rizzuto R
Duchen MR
Muntoni F
Sheridan E
Pokaż więcej
Corporate Authors:
UK10K Consortium
Źródło:
Nature genetics [Nat Genet] 2014 Feb; Vol. 46 (2), pp. 188-93. Date of Electronic Publication: 2013 Dec 15.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Phenotype*
Calcium Signaling/*genetics
Calcium-Binding Proteins/*genetics
Cation Transport Proteins/*genetics
Learning Disabilities/*genetics
Mitochondria/*metabolism
Mitochondrial Membrane Transport Proteins/*genetics
Movement Disorders/*genetics
Muscular Diseases/*genetics
Analysis of Variance ; Base Sequence ; Calcium Channels/metabolism ; Calcium Signaling/physiology ; Calcium-Binding Proteins/metabolism ; Cation Transport Proteins/metabolism ; DNA, Complementary/genetics ; Exome/genetics ; Extrapyramidal Tracts/pathology ; Fluorescent Antibody Technique ; Histological Techniques ; Humans ; Immunohistochemistry ; Membrane Potential, Mitochondrial/genetics ; Mitochondrial Membrane Transport Proteins/metabolism ; Molecular Sequence Data ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Quadriceps Muscle/pathology ; Real-Time Polymerase Chain Reaction ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Autorzy:
Thompson BA; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.; School of Medicine, University of Queensland, Brisbane, Australia.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Plazzer JP; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.
Greenblatt MS; Vermont Cancer Center, University of Vermont College of Medicine, Burlington, VT, USA.
Akagi K; Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.
Al-Mulla F; Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, Safat, Kuwait.
Bapat B; Department of Lab Medicine and Pathobiology, University of Toronto, Canada.
Bernstein I; Danish HNPCC Registry, Copenhagen, Denmark.; Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark.
Capellá G; Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.
den Dunnen JT; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
du Sart D; Molecular Genetics Lab, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia.
Fabre A; INSERM UMR S910, Department of Medical Genetics and Functional Genomics, Marseille, France.
Farrell MP; Department of Cancer Genetics, Mater Private Hospital, Dublin, Ireland.
Farrington SM; Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland.
Frayling IM; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Frebourg T; Inserm U1079, Faculty of Medicine, Institute for Biomedical Research, University of Rouen, France.
Goldgar DE; Department of Dermatology, University of Utah Medical School, Salt Lake City, UT, USA.; Huntsman Cancer Institute, Salt Lake City, UT, USA.
Heinen CD; Center for Molecular Medicine, UConn Health Center, Farmington, CT, USA.; Neag Comprehensive Cancer Center, UConn Health Center, Farmington, CT, USA.
Holinski-Feder E; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany.
Kohonen-Corish M; School of Medicine, University of Western Sydney, Sydney, Australia.; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, Australia.; St Vincent's Clinical School, University of NSW, Sydney, Australia.
Robinson KL; Department of Molecular Medicine and Surgery, Karolinska Institutet, Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Leung SY; Hereditary Gastrointestinal Cancer Genetic Diagnosis Laboratory, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
Martins A; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.
Moller P; Research Group on Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, The Norwegian Radium Hospital, Oslo, Norway.
Morak M; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.; Klinikum der Universität München, Campus Innenstadt, Medizinische Klinik und Poliklinik IV, Munich, Germany.
Nystrom M; Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland.
Peltomaki P; Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain.
Qi M; Center for Genetic and Genomic Medicine, The First Affiliated Hospital of Zhejiang University School of Medicine, James Watson Institute of Genomic Sciences, Beijing Genome Institute, China.; University of Rochester Medical Center, NY, USA.
Ramesar R; MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, South Africa.
Rasmussen LJ; Center for Healthy Aging, University of Copenhagen, Denmark.
Royer-Pokora B; Institute of Human Genetics, University of Düsseldorf, Germany.
Scott RJ; Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia.; The Division of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, NSW, Australia.
Sijmons R; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Tavtigian SV; Huntsman Cancer Institute, Salt Lake City, UT, USA.
Tops CM; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Weber T; State University of New York at Downstate, Brooklyn, NY, USA.
Wijnen J; Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Woods MO; Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NL, Canada.
Macrae F; Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Australia.
Genuardi M; Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Italy.; Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy.
Pokaż więcej
Źródło:
Nature genetics [Nat Genet] 2014 Feb; Vol. 46 (2), pp. 107-115. Date of Electronic Publication: 2013 Dec 22.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Databases, Genetic*
Classification/*methods
DNA Mismatch Repair/*genetics
Gastrointestinal Neoplasms/*genetics
Genetic Variation/*genetics
Disease Management ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The Genome of the Netherlands: design, and project goals.
Autorzy:
Boomsma DI; Department of Biological Psychology, VU University Amsterdam, Netherlands Twin Register, Amsterdam, The Netherlands.
Wijmenga C; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Slagboom EP; Molecular Epidemiology Section, Leiden University Medical Center, Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands.
Swertz MA; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Karssen LC; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Abdellaoui A; Department of Biological Psychology, VU University Amsterdam, Netherlands Twin Register, Amsterdam, The Netherlands.
Ye K; Molecular Epidemiology Section, Leiden University Medical Center, Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands.
Guryev V; 1] European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands [2] Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, University Medical Center Utrecht, Utrecht, The Netherlands.
Vermaat M; 1] Netherlands Bioinformatics Centre, Nijmegen, The Netherlands [2] Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands [3] Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
van Dijk F; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Francioli LC; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Hottenga JJ; Department of Biological Psychology, VU University Amsterdam, Netherlands Twin Register, Amsterdam, The Netherlands.
Laros JF; 1] Netherlands Bioinformatics Centre, Nijmegen, The Netherlands [2] Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands [3] Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
Li Q; BGI-Shenzhen, Shenzhen, China.
Li Y; BGI-Shenzhen, Shenzhen, China.
Cao H; BGI-Shenzhen, Shenzhen, China.
Chen R; BGI-Shenzhen, Shenzhen, China.
Du Y; BGI-Shenzhen, Shenzhen, China.
Li N; BGI-Europe, Copenhagen, Denmark.
Cao S; BGI-Europe, Copenhagen, Denmark.
van Setten J; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Menelaou A; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Pulit SL; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Hehir-Kwa JY; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Beekman M; Department of Gerontology and Geriatrics, Leiden University Medical Centre, Leiden, The Netherlands.
Elbers CC; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Byelas H; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
de Craen AJ; Department of Gerontology and Geriatrics, Leiden University Medical Centre, Leiden, The Netherlands.
Deelen P; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Dijkstra M; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
den Dunnen JT; 1] Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands [2] Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
de Knijff P; 1] Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands [2] Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
Houwing-Duistermaat J; Department of Medical Statistics and Bioinformatics, Leiden University Medical Centre, Leiden, The Netherlands.
Koval V; Erasmus Medical Centre, Genetic Laboratory Internal Medicine, Rotterdam, The Netherlands.
Estrada K; Erasmus Medical Centre, Genetic Laboratory Internal Medicine, Rotterdam, The Netherlands.
Hofman A; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Kanterakis A; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Enckevort Dv; Netherlands Bioinformatics Centre, Nijmegen, The Netherlands.
Mai H; Netherlands Bioinformatics Centre, Nijmegen, The Netherlands.
Kattenberg M; Department of Biological Psychology, VU University Amsterdam, Netherlands Twin Register, Amsterdam, The Netherlands.
van Leeuwen EM; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Neerincx PB; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Oostra B; Department of Clinical Genetics, Erasmus University Medical School, Rotterdam, The Netherlands.
Rivadeneira F; Erasmus Medical Centre, Genetic Laboratory Internal Medicine, Rotterdam, The Netherlands.
Suchiman EH; Molecular Epidemiology Section, Leiden University Medical Center, Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands.
Uitterlinden AG; Erasmus Medical Centre, Genetic Laboratory Internal Medicine, Rotterdam, The Netherlands.
Willemsen G; Department of Biological Psychology, VU University Amsterdam, Netherlands Twin Register, Amsterdam, The Netherlands.
Wolffenbuttel BH; LifeLines Cohort Study & Department of Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Wang J; 1] BGI-Shenzhen, Shenzhen, China [2] Department of Biology, University of Copenhagen, Copenhagen, Denmark [3] The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.
de Bakker PI; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Ommen GJ; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
van Duijn CM; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Feb; Vol. 22 (2), pp. 221-7. Date of Electronic Publication: 2013 May 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Variation*
Genome, Human*
Adult ; Aged ; Aged, 80 and over ; Databases, Genetic ; Female ; Gene Frequency ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Netherlands ; Phylogeography ; Sequence Analysis, DNA ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
Autorzy:
't Hoen PA; 1] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. [2] Netherlands Bioinformatics Centre, Leiden, The Netherlands.
Friedländer MR
Almlöf J
Sammeth M
Pulyakhina I
Anvar SY
Laros JF
Buermans HP
Karlberg O
Brännvall M
den Dunnen JT
van Ommen GJ
Gut IG
Guigó R
Estivill X
Syvänen AC
Dermitzakis ET
Lappalainen T
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Corporate Authors:
GEUVADIS Consortium
Źródło:
Nature biotechnology [Nat Biotechnol] 2013 Nov; Vol. 31 (11), pp. 1015-22. Date of Electronic Publication: 2013 Sep 15.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
High-Throughput Nucleotide Sequencing/*standards
MicroRNAs/*chemistry
RNA, Messenger/*chemistry
Sequence Analysis, RNA/*standards
Female ; Gene Expression Profiling/methods ; Gene Expression Profiling/standards ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Male ; MicroRNAs/analysis ; MicroRNAs/genetics ; RNA, Messenger/analysis ; RNA, Messenger/genetics ; Reproducibility of Results ; Sequence Analysis, RNA/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 60

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