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Tytuł:
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
Autorzy:
Bosch DG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Boonstra FN; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Kinoshita T; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan.
Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
de Ligt J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Murakami Y; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan.
de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1689-93. Date of Electronic Publication: 2015 Mar 25.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Intellectual Disability/*genetics
Membrane Proteins/*genetics
Phosphoric Monoester Hydrolases/*genetics
Vision Disorders/*genetics
Animals ; CHO Cells ; Cell Line, Tumor ; Child ; Cricetinae ; Cricetulus ; Humans ; Intellectual Disability/diagnosis ; Male ; Membrane Proteins/metabolism ; Phosphoinositide Phospholipase C/metabolism ; Phosphoric Monoester Hydrolases/metabolism ; Syndrome ; Vision Disorders/diagnosis ; Visual Perception
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Collapsed haplotype pattern method for linkage analysis of next-generation sequence data.
Autorzy:
Wang GT; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Zhang D; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Li B; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Dai H; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1739-43. Date of Electronic Publication: 2015 Apr 15.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genetic Linkage*
Haplotypes*
Software*
Chromosome Mapping/*methods
High-Throughput Nucleotide Sequencing/*methods
Sequence Analysis, DNA/*methods
Hearing Loss/genetics ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.
Autorzy:
Jaeken J; Department of Development and Regeneration, Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
Lefeber D; Department of Neurology, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
Matthijs G; Department of Human Genetics, Centre for Human Genetics, KU Leuven, Leuven, Belgium.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12). Date of Electronic Publication: 2015 Aug 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Congenital Disorders of Glycosylation/*genetics
N-Acetylglucosaminyltransferases/*genetics
Congenital Disorders of Glycosylation/diagnosis ; Congenital Disorders of Glycosylation/epidemiology ; Genetic Testing/methods ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Association of mutations in FLNA with craniosynostosis.
Autorzy:
Fennell N; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
Foulds N; Wessex Clinical Genetics Services, UHS NHS Foundation Trust, Princess Anne Hospital, Southampton, UK.; Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Johnson DS; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Wyatt M; Department of Paediatric Otolaryngology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, Dunedin, New Zealand.
Johnson D; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.
Wilkie AO; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1684-8. Date of Electronic Publication: 2015 Apr 15.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Craniosynostoses/*genetics
Filamins/*genetics
Child ; Child, Preschool ; Craniosynostoses/diagnosis ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
Autorzy:
Klar J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Biomedical Centre, Uppsala University, Uppsala, Sweden.
Raykova D; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Biomedical Centre, Uppsala University, Uppsala, Sweden.
Gustafson E; Department of Womens and Childrens Health, Uppsala University, Uppsala, Sweden.
Tóthová I; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Biomedical Centre, Uppsala University, Uppsala, Sweden.; Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Presov, Slovak Republic.
Ameur A; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Biomedical Centre, Uppsala University, Uppsala, Sweden.
Wanders A; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Biomedical Centre, Uppsala University, Uppsala, Sweden.
Dahl N; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Biomedical Centre, Uppsala University, Uppsala, Sweden.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1679-83. Date of Electronic Publication: 2015 Mar 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Phenotype*
Actins/*genetics
Duodenum/*abnormalities
Intestinal Pseudo-Obstruction/*genetics
Urinary Bladder/*abnormalities
Actins/chemistry ; Adolescent ; Adult ; Amino Acid Sequence ; Child ; Female ; Humans ; Intestinal Pseudo-Obstruction/diagnosis ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree
SCR Disease Name:
Visceral Myopathy, Familial
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.
Autorzy:
Milillo A; Institute of Medical Genetics, Catholic University, Rome, Italy.
La Carpia F; Institute of Medical Genetics, Catholic University, Rome, Italy.
Costanzi S; Division of Nephrology and Dialysis Columbus-Gemelli University Hospital, Rome, Italy.
D'Urbano V; Institute of Medical Genetics, Catholic University, Rome, Italy.
Martini M; Division of Anatomic Pathology and Histology, Catholic University, Rome, Italy.
Lanuti P; Department of Medicine and Aging Science, School of Medicine and Health Sciences, University 'G. d'Annunzio', Chieti, Italy.
Vischini G; Division of Nephrology and Dialysis Columbus-Gemelli University Hospital, Rome, Italy.
Larocca LM; Division of Anatomic Pathology and Histology, Catholic University, Rome, Italy.
Marchisio M; Department of Medicine and Aging Science, School of Medicine and Health Sciences, University 'G. d'Annunzio', Chieti, Italy.
Miscia S; Department of Medicine and Aging Science, School of Medicine and Health Sciences, University 'G. d'Annunzio', Chieti, Italy.
Amoroso A; Department of Medical Sciences, University of Torino, Torino, Italy.
Gurrieri F; Institute of Medical Genetics, Catholic University, Rome, Italy.
Sangiorgi E; Institute of Medical Genetics, Catholic University, Rome, Italy.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1673-8. Date of Electronic Publication: 2015 Mar 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Down-Regulation*
MAP Kinase Signaling System*
Mutation, Missense*
Glomerulonephritis, IGA/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
Membrane Proteins/*genetics
Adolescent ; Adult ; Aged ; Amino Acid Sequence ; Child ; Exome ; Female ; Genes, Dominant ; Genetic Linkage ; Glomerulonephritis, IGA/diagnosis ; Humans ; Intracellular Signaling Peptides and Proteins/metabolism ; Male ; Membrane Proteins/metabolism ; Middle Aged ; Molecular Sequence Data ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Autorzy:
Kwiatkowski DJ; Brigham and Women's Hospital, Boston, MA, USA.
Palmer MR; Novartis Oncology Translational Medicine, Cambridge, MA, USA.
Jozwiak S; The Children's Memorial Health Institute, Warsaw, Poland.
Bissler J; St Jude Children's Research Hospital, University of Tennessee Health Science Center, Memphis, TN, USA.
Franz D; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Segal S; Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA.
Chen D; Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA.
Sampson JR; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1665-72. Date of Electronic Publication: 2015 Mar 18.
Typ publikacji:
Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Angiomyolipoma/*genetics
Antineoplastic Agents/*therapeutic use
Brain Neoplasms/*genetics
Everolimus/*therapeutic use
Tuberous Sclerosis/*genetics
Tumor Suppressor Proteins/*genetics
Adolescent ; Adult ; Angiomyolipoma/drug therapy ; Brain Neoplasms/drug therapy ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Tuberous Sclerosis/drug therapy ; Tuberous Sclerosis Complex 1 Protein ; Tuberous Sclerosis Complex 2 Protein
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
Autorzy:
Lehmann D; Department of Neurology, University of Halle-Wittenberg, Halle (Saale), Germany.
Schubert K; Department of Neurology, University of Halle-Wittenberg, Halle (Saale), Germany.
Joshi PR; Department of Neurology, University of Halle-Wittenberg, Halle (Saale), Germany.
Hardy SA; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.
Tuppen HA; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.
Baty K; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.
Blakely EL; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.
Bamberg C; Department of Neurology, Rhein-Mosel-Fachklinik, Andernach, Germany.
Zierz S; Department of Neurology, University of Halle-Wittenberg, Halle (Saale), Germany.
Deschauer M; Department of Neurology, University of Halle-Wittenberg, Halle (Saale), Germany.
Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1735-8. Date of Electronic Publication: 2015 Apr 15.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
DNA, Mitochondrial/*genetics
Muscular Diseases/*genetics
RNA, Transfer, Ala/*genetics
Adult ; Aged ; Base Sequence ; Electron Transport Complex IV/genetics ; Female ; Humans ; Molecular Sequence Data ; Muscular Diseases/diagnosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
Autorzy:
Evers C; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Paramasivam N; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Fischer C; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Granzow M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Schmidt-Bacher A; Department of Ophthalmology, St Vincentius-Kliniken gAG Karlsruhe, Karlsruhe, Germany.
Eils R; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University, Heidelberg, Germany.
Steinbeisser H; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Schlesner M; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Moog U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1627-33. Date of Electronic Publication: 2015 Mar 25.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Genetic Linkage*
Cataract/*congenital
GTPase-Activating Proteins/*genetics
Cataract/diagnosis ; Cataract/genetics ; Child, Preschool ; Chromosomes, Human, Pair 19/genetics ; Codon, Nonsense ; Female ; Homozygote ; Humans ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Stakeholders' perspectives on biobank-based genomic research: systematic review of the literature.
Autorzy:
Husedzinovic A; Programme for Ethics and Patient-Oriented Care in Oncology, National Center for Tumor Diseases (NCT), Heidelberg University Hospital, Heidelberg, Germany.; Department of Translational Oncology, National Center for Tumor Diseases (NCT), German Cancer Research Center (DKFZ), Heidelberg University Hospital, Heidelberg, Germany.
Ose D; Department of General Practice and Health Services Research, Heidelberg University Hospital, Heidelberg, Germany.
Schickhardt C; Programme for Ethics and Patient-Oriented Care in Oncology, National Center for Tumor Diseases (NCT), Heidelberg University Hospital, Heidelberg, Germany.
Fröhling S; Department of Translational Oncology, National Center for Tumor Diseases (NCT), German Cancer Research Center (DKFZ), Heidelberg University Hospital, Heidelberg, Germany.
Winkler EC; Programme for Ethics and Patient-Oriented Care in Oncology, National Center for Tumor Diseases (NCT), Heidelberg University Hospital, Heidelberg, Germany.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1607-14. Date of Electronic Publication: 2015 Mar 04.
Typ publikacji:
Journal Article; Meta-Analysis; Review; Systematic Review
MeSH Terms:
Confidentiality/*ethics
Databases, Factual/*ethics
Genomics/*ethics
Confidentiality/legislation & jurisprudence ; Databases, Factual/legislation & jurisprudence ; Humans ; Informed Consent/ethics ; Informed Consent/legislation & jurisprudence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
Autorzy:
Sansbury FH; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Kirel B; Endocrinology Unit, Faculty of Medicine, Department of Pediatrics, Eskişehir Osmangazi University, Eskişehir, Turkey.
Caswell R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Allen HL
Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Hattersley AT; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Shaw-Smith CJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1744-8. Date of Electronic Publication: 2015 Aug 12.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Codon, Nonsense*
DNA-Binding Proteins/*genetics
Diabetes Mellitus/*genetics
Gallbladder Diseases/*genetics
Intestinal Atresia/*genetics
Transcription Factors/*genetics
Adolescent ; Alleles ; Child ; Diabetes Mellitus/diagnosis ; Female ; Gallbladder Diseases/diagnosis ; Heterozygote ; Humans ; Intestinal Atresia/diagnosis ; Male ; Regulatory Factor X Transcription Factors
SCR Disease Name:
Mitchell-Riley Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.
Autorzy:
Pirastu N; Institute for Maternal and Child Health, IRCCS, Burlo, Garofolo.; University of Trieste, Trieste, Italy.
Kooyman M; Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Traglia M; Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
Robino A; Institute for Maternal and Child Health, IRCCS, Burlo, Garofolo.
Willems SM; Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Pistis G; Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
Amin N; Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Sala C; Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
Karssen LC; Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
van Duijn CM; Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.; Centre for Medical Systems Biology, Leiden University Medical Center, Leiden, The Netherlands.
Toniolo D; Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
Gasparini P; Institute for Maternal and Child Health, IRCCS, Burlo, Garofolo.; University of Trieste, Trieste, Italy.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1717-22. Date of Electronic Publication: 2015 Mar 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Food Preferences*
Polymorphism, Single Nucleotide*
Wine*
HLA-D Antigens/*genetics
Adult ; Aged ; Case-Control Studies ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.
Autorzy:
Howard HC; Centre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.
Knoppers BM; Department of Human Genetics, Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada.
Cornel MC; Department of Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Wright Clayton E; Center for Biomedical Ethics and Society, Vanderbilt University, Nashville, TN, USA.
Sénécal K; Department of Human Genetics, Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada.
Borry P; Department of Public Health and Primary Care, University of Leuven, Leuven, Belgium.
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Corporate Authors:
European Society of Human Genetics
P3G International Paediatric Platform
Human Genome Organisation; and the PHG Foundation
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1593-600. Date of Electronic Publication: 2015 Jan 28.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Health Planning Guidelines*
Genetic Testing/*methods
Genome-Wide Association Study/*methods
Genetic Testing/standards ; Genetic Testing/trends ; Genome-Wide Association Study/standards ; Humans ; Infant, Newborn ; Sequence Analysis, DNA/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
Autorzy:
Tønne E; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Holdhus R; Department of Clinical Science, University of Bergen, Bergen, Norway.
Stansberg C; Department of Clinical Science, University of Bergen, Bergen, Norway.
Stray-Pedersen A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Petersen K; Computational Biology Unit, University of Bergen, Bergen, Norway.
Brunner HG; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands.
Gilissen C; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands.
Hoischen A; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands.
Prescott T; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Steen VM; Department of Clinical Science, University of Bergen, Bergen, Norway.; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Fiskerstrand T; Department of Clinical Science, University of Bergen, Bergen, Norway.; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1652-6. Date of Electronic Publication: 2015 Mar 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Mental Retardation, X-Linked/*genetics
Ubiquitin-Protein Ligases/*genetics
Adult ; Aged ; Amino Acid Sequence ; Base Sequence ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mental Retardation, X-Linked/diagnosis ; Middle Aged ; Molecular Sequence Data
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Deciphering associations for lung cancer risk through imputation and analysis of 12,316 cases and 16,831 controls.
Autorzy:
Wang Y; Division of Genetics and Epidemiology, The Institute of Cancer Research, Surrey, Sutton, UK.
Wei Y; Department of Environmental Health, Harvard School of Public Health, Boston, MA, USA.
Gaborieau V; International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
Shi J; Division of Cancer Epidemiology and Genetics, National Cancer institute, NIH, DHHS, Bethesda, MD, USA.
Han Y; Department of Community and Family Medicine, Geisel School of Medicine, Center for Genomic Medicine, Lebanon, NH, USA.
Timofeeva MN; International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.; Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Su L; Department of Environmental Health, Harvard School of Public Health, Boston, MA, USA.
Li Y; Department of Community and Family Medicine, Geisel School of Medicine, Center for Genomic Medicine, Lebanon, NH, USA.
Eisen T; Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge, UK.
Amos CI; Department of Community and Family Medicine, Geisel School of Medicine, Center for Genomic Medicine, Lebanon, NH, USA.
Landi MT; Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
Christiani DC; Department of Environmental Health, Harvard School of Public Health, Boston, MA, USA.
McKay JD; International Agency for Research on Cancer (IARC, World Health Organization (WHO)), Lyon, France.
Houlston RS; Division of Genetics and Epidemiology, The Institute of Cancer Research, Surrey, Sutton, UK.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1723-8. Date of Electronic Publication: 2015 Mar 25.
Typ publikacji:
Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Loci*
Lung Neoplasms/*genetics
Adult ; Aged ; Case-Control Studies ; Female ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.
Autorzy:
Fine D; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Flusser H; Zusman Child Development Center, Pediatric Division, Soroka University Medical Center and Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Markus B; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Shorer Z; Pediatric Neurology unit, Pediatric Division, Soroka University Medical Center and Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Gradstein L; Department of Ophthalmology, Soroka University Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Khateeb S; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Langer Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Narkis G; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Birk R; Faculty of Health Sciences, Department of Nutrition, Ariel University, Ariel, Israel.
Galil A; Zusman Child Development Center, Pediatric Division, Soroka University Medical Center and Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Shelef I; Department of Diagnostic Imaging, Soroka Medical Center, Beer-Sheva, Israel.
Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.; Soroka Medical Center, Genetics Institute, Beer-Sheva, Israel.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1729-34. Date of Electronic Publication: 2014 Nov 12.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Frameshift Mutation*
Adaptor Proteins, Signal Transducing/*genetics
Intellectual Disability/*genetics
Microcephaly/*genetics
Adult ; Amino Acid Sequence ; Base Sequence ; Child ; Female ; Gene Duplication ; Homozygote ; Humans ; Intellectual Disability/diagnosis ; Male ; Microcephaly/diagnosis ; Molecular Sequence Data ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Towards a European consensus for reporting incidental findings during clinical NGS testing.
Autorzy:
Hehir-Kwa JY; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.; Donders Centre of Cognitive Science, Nijmegen, The Netherlands.
Claustres M; Department of Molecular Genetics, IURC (Institut Universitaire de Recherche Clinique), Montpellier, France.
Hastings RJ; CEQAS, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, England.
van Ravenswaaij-Arts C; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Christenhusz G; Centre for Biomedical Ethics and Law, University of Leuven, Leuven, Belgium.
Genuardi M; Institute of Medical Genetics, 'A. Gemelli' School of Medicine, Catholic University of the Sacred Heart, Rome, Italy.
Melegh B; Department of Medical Genetics, University of Pécs, Pécs, Hungary.
Cambon-Thomsen A; Institut national de la santé et de la recherche médicale and Université Toulouse III-Paul Sabatier joint Unit 1027, Faculty of Medicine, Toulouse, France.
Patsalis P; Translational Genetics Team, The Cyprus Institute of Neurology & Genetics, Cyprus School of Molecular Medicine, Nicosia, Cyprus.
Vermeesch J; Centre for Human Genetics, University Hospital Leuven, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Cornel MC; Clinical Genetics & EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Searle B; Unique (Rare Chromosome Disorder Support Group), Oxted, England.
Palotie A; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Capoluongo E; SIBioC Clinical Molecular Diagnostic Training School, Istituto di Biochimica Clinica, Università Cattolica del S. Cuore, Rome, Italy.
Peterlin B; Department of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Estivill X; Center for Genomic Regulation (CRG), Barcelona, Spain.; Pompeu Fabra University (UPF), Barcelona, Spain.; Dexeus Women's Health Quiron-Dexeus University Institute, Barcelona, Spain.
Robinson PN; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Department of Mathematics and Computer Science, Institute for Bioinformatics, Freie Universität Berlin, Berlin, Germany.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1601-6. Date of Electronic Publication: 2015 Jun 03.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Consensus Development Conferences as Topic*
High-Throughput Nucleotide Sequencing/*standards
Sequence Analysis, DNA/*standards
European Union ; High-Throughput Nucleotide Sequencing/methods ; Incidental Findings ; Sequence Analysis, DNA/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Autorzy:
Racacho L; Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Byrnes AM; Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
MacDonald H; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Dranse HJ; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC, Canada.
Nikkel SM; Faculty of Medicine, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Allanson J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Rosser E; Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Underhill TM; Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC, Canada.
Bulman DE; Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Faculty of Medicine, Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1640-5. Date of Electronic Publication: 2015 Mar 11.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Bone Morphogenetic Protein Receptors, Type I/*genetics
Brachydactyly/*genetics
Animals ; Base Sequence ; Brachydactyly/diagnosis ; Cells, Cultured ; Exons ; Female ; Humans ; Infant ; Male ; Mice ; Molecular Sequence Data
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Autorzy:
Nevado J; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Rosenfeld JA; Signature Genomic Laboratories, PerkinElmer Inc., Spokane, WA, USA.
Mena R; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Palomares-Bralo M; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Vallespín E; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Ángeles Mori M; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
Tenorio JA; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Gripp KW; AI DuPont Hospital for Children, Wilmington, DE, USA.
Denenberg E; AI DuPont Hospital for Children, Wilmington, DE, USA.
Del Campo M; Hospital Vall D'Hebron, Barcelona, Spain.
Plaja A; Hospital Vall D'Hebron, Barcelona, Spain.
Martín-Arenas R; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Santos-Simarro F; Section of Clinical Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Armengol L; Q-Genomics Laboratory, Barcelona, Spain.
Gowans G; University of Louisville, Kentucky, USA.
Orera M; CGC-Genetics, Madrid, Spain.
Sanchez-Hombre MC; CGC-Genetics, Madrid, Spain.
Corbacho-Fernández E; CGC-Genetics, Madrid, Spain.
Fernández-Jaén A; Hospital Quirón de Madrid, Madrid, Spain.
Haldeman-Englert C; Wake Forest University, Winston-Salem, NC, USA.
Saitta S; Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA, USA.
Dubbs H; The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Bénédicte DB; Hospital Saint Vincent de Paul, Lille, France.
Li X; Ameripath Northeast, Shelton, CT, USA.
Devaney L; Henry Ford Health System, Sterling Heights, Michigan, USA.
Dinulos MB; Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.
Vallee S; Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.
Crespo MC; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Fernández B; Section Cytogenetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Fernández-Montaño VE; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Rueda-Arenas I; Section of Functional and Structural Genomics Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
de Torres ML; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Section Cytogenetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Ellison JW; Kaiser Permanente, San Francisco, CA, USA.
Raskin S; Center for Health and Biological Sciences, Pontifícia Universidade Católica do Paraná (PUC-PR), Curitiba, Brazil.
Venegas-Vega CA; Genetic Unit Hospital General de México, México, México.; School of Medicine. Universidad Autónoma de México, México, México.
Fernández-Ramírez F; Genetic Unit Hospital General de México, México, México.
Delicado A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Section Cytogenetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
García-Miñaúr S; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Section of Clinical Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Section of Clinical Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1615-26. Date of Electronic Publication: 2015 Apr 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Deletion*
Chromosome Duplication*
Chromosomes, Human, Pair 19/*genetics
Developmental Disabilities/*genetics
Megalencephaly/*genetics
Microcephaly/*genetics
Protein Inhibitors of Activated STAT/*genetics
Child ; Child, Preschool ; DNA-Binding Proteins/genetics ; Developmental Disabilities/pathology ; Female ; Humans ; Infant ; MAP Kinase Kinase 2/genetics ; Male ; Megalencephaly/pathology ; Microcephaly/pathology ; Poly-ADP-Ribose Binding Proteins ; Syndrome ; Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 3620

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