Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Marcel M Mannens"'
Autor:
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0268149 (2022)
Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia and/or microphthalmia (wit
Externí odkaz:
https://doaj.org/article/9d06bad8b8e446029dee31c9786b024b
Autor:
Peter Henneman, Arjan Bouman, Adri Mul, Lia Knegt, Anne-Marie van der Kevie-Kersemaekers, Nitash Zwaveling-Soonawala, Hanne E J Meijers-Heijboer, A S Paul van Trotsenburg, Marcel M Mannens
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0194938 (2018)
Down syndrome (DS) is the most frequent genetic cause of intellectual disability. Despite the fact that more than 50 years have passed since the discovery of its genetic aberrations, the exact pathogenesis of the DS phenotype has remained largely une
Externí odkaz:
https://doaj.org/article/71f8f06ba8d14e2f8486496b239d453c
Autor:
Peter Henneman, Adri N Mul, Andrew YF Li Yim, Izabela M Krzyzewska, Mariëlle Alders, Adelia Adelia, Mark R Mizee, Marcel M Mannens
Publikováno v:
Henneman, P, Mul, A N, Li Yim, A Y, Krzyzewska, I M, Alders, M, Adelia, A, Mizee, M R & Mannens, M M 2022, ' Prenatal NeuN+ neurons of Down syndrome display aberrant integrative DNA methylation and gene expression profiles ', Epigenomics, vol. 14, no. 7, pp. 375-390 . https://doi.org/10.2217/epi-2021-0523
Epigenomics, 14, 375-390. Future Medicine Ltd.
Epigenomics, 14(7), 375-390. Future Medicine Ltd.
Epigenomics, 14, 375-390. Future Medicine Ltd.
Epigenomics, 14(7), 375-390. Future Medicine Ltd.
Aim: To detect expression quantitative trait methylation (eQTM) loci within the cerebrum of prenatal Down syndrome (DS) and controls. Material & methods: DNA methylation gene expression profiles were acquired from NeuN+ nuclei, obtained from cerebrum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d707d012af7d6792c81b0ab4f0faa8
https://research.vumc.nl/en/publications/6ad8f0c3-f79c-4c9e-9747-7e11e19cd81b
https://research.vumc.nl/en/publications/6ad8f0c3-f79c-4c9e-9747-7e11e19cd81b
Autor:
Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Rastin C; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Demain L; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Dominguez-Garrido E; Rioja Health Foundation, La Rioja, Spain., Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Houge SD; Haukeland University Hospital, Centre for Medical Genetics and Molecular Medicine, Bergen, Norway., DuPont BR; Greenwood Genetic Center, Greenwood, SC., Fee T; Greenwood Genetic Center, Greenwood, SC., Fletcher RS; Greenwood Genetic Center, Greenwood, SC., Gokhale D; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Haukanes BI; Haukeland University Hospital, Centre for Medical Genetics and Molecular Medicine, Bergen, Norway., Henneman P; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Hilton BA; Greenwood Genetic Center, Greenwood, SC., Jenkinson S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Lee JA; Greenwood Genetic Center, Greenwood, SC., Louie RJ; Greenwood Genetic Center, Greenwood, SC., Motazacker MM; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Plomp A; Department of Clinical Genetics, AMC, Amsterdam, The Netherlands., van der Laan L; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., van der Smagt J; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Walden KK; Greenwood Genetic Center, Greenwood, SC., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom., Mannens M; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Skinner SA; Greenwood Genetic Center, Greenwood, SC., Friez MJ; Greenwood Genetic Center, Greenwood, SC., Campbell C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Tedder ML; Greenwood Genetic Center, Greenwood, SC., Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101075. Date of Electronic Publication: 2024 Jan 18.
Autor:
Vos N; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands., Reilly J; Department of Pathology & Laboratory Medicine, Western University, London, ON, N6A 5C1, Canada., Elting MW; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands., Campeau PM; Department of Pediatrics, Sainte-Justine UHC & University of Montreal, Montreal, QC, H3T 1C5, Canada., Coman D; Department of Metabolic Medicine, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.; School of Medicine, University of Queensland, Brisbane, QLD 4072, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, University of Melbourne, Grattan Street, Parkville, Victoria, 3010, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, 3052, Australia.; Department of Paediatrics, University of Melbourne, Grattan Street, Parkville, Victoria, 3010, Australia., Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia., Kaur S; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia., StJohn M; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia., Morgan AT; Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Rd, Parkville VIC, 3052, Australia.; University of Melbourne Department of Pediatrics, Parkville, Victoria, 3010, Australia., Kamien BA; Genetics Services of Western Australia, Perth, 6008, Western Australia., Patel C; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Herston, QLD 4006, Australia., Tedder ML; Greenwood Genetic Center, Greenwood, SC 29646, United States., Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo (Foggia), Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federica II, 5 - 80131, Naples, Italy., Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Piazza dell'Università, 1, 06123, Perugia PG, Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni Rotondo (Foggia), Italy., Muru K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Riia 23b, 51010, Tartu, Estonia., Collins F; Discipline of Child and Adolescent Health and Genomic Medicine, Sydney Medical School, Sydney University, Sydney, Camperdown NSW, 2050, Australia.; Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Randwick NSW, 2031, Australia., Christodoulou J; Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Randwick NSW, 2031, Australia., Smith J; Sydney Children's Hospitals Network-Westmead, Randwick NSW, 2031, Australia.; University of Sydney, Camperdown NSW, 2006, Australia., Zeev BB; Sackler School of Medicine Tel Aviv University, Tel Aviv, 6997801, Israel., Murgia A; Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy., Leonardi E; Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Via Giustiniani 3, 35128, Padua, Italy., Esber N; KAT6A Foundation, 3 Louise Dr., West Nyack, NY 10994, USA., Martinez-Monseny A; Genetics and Molecular Medicine Department, Rare Disease Pediatric Unit, Hospital Sant Joan de Déu, 2, 08950 Esplugues de Llobregat, Barcelona, Spain., Casas-Alba D; Genetics and Molecular Medicine Department, Rare Disease Pediatric Unit, Hospital Sant Joan de Déu, 2, 08950 Esplugues de Llobregat, Barcelona, Spain., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Royal Hobart Hospital, Hobart, TAS 7001, Australia., Mannens M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands., Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Relator R; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands., Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A 5W9, Canada.
Publikováno v:
Epigenomics [Epigenomics] 2023 Mar; Vol. 15 (6), pp. 351-367. Date of Electronic Publication: 2023 May 30.
Autor:
Aref-Eshghi E, Kerkhof J, Pedro VP, France GD, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1161-1163.
Autor:
van de Burgt N; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands. Electronic address: nikita.vdburgt@maastrichtuniversity.nl., van Koningsbruggen S; Department of Clinical Genetics, Laboratory of Genome Diagnostics, Amsterdam University Medical Centre (AUMC), Amsterdam, the Netherlands., Behrens L; Department of Clinical Genetics, Laboratory of Genome Diagnostics, Amsterdam University Medical Centre (AUMC), Amsterdam, the Netherlands., Leibold N; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands., Martinez-Martinez P; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands., Mannens M; Department of Clinical Genetics, Laboratory of Genome Diagnostics, Amsterdam University Medical Centre (AUMC), Amsterdam, the Netherlands., van Amelsvoort T; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands.
Publikováno v:
Journal of psychiatric research [J Psychiatr Res] 2021 Jun; Vol. 138, pp. 125-129. Date of Electronic Publication: 2021 Apr 01.
Autor:
Aref-Eshghi E; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada., Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada., Pedro VP; Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON N6A5C1, Canada., Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France., Ruiz-Pallares N; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France., Andrau JC; Institut de Génétique Moléculaire de Montpellier (IGMM), University Montpellier, CNRS-UMR5535, 34090 Montpellier, France., Lacombe D; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France., Van-Gils J; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France., Fergelot P; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France., Dubourg C; Service de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, 35000 Rennes, France., Cormier-Daire V; Department of Medical Genetics, Paris Descartes University, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France., Rondeau S; Department of Medical Genetics, Paris Descartes University, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France., Lecoquierre F; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, 76183 Rouen, France., Saugier-Veber P; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, 76183 Rouen, France., Nicolas G; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, 76183 Rouen, France., Lesca G; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France., Chatron N; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France., Sanlaville D; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France., Vitobello A; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, 21000 Dijon, France., Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon, 21000, Dijon, France., Thauvin-Robinet C; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon, 21000, Dijon, France., Laumonnier F; UMR 1253, iBrain, Universite de Tours, Inserm, 37200 Tours, France; Centre Hospitalier Universitaire de Tours, Service de Genetique, 37000 Tours, France., Raynaud M; UMR 1253, iBrain, Universite de Tours, Inserm, 37200 Tours, France; Centre Hospitalier Universitaire de Tours, Service de Genetique, 37000 Tours, France., Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Mannens M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Henneman P; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, 1012 WX, the Netherlands., Velasco G; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, 75013 Paris, France., Francastel C; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, 75013 Paris, France., Ulveling D; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, 75013 Paris, France., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy., Heide S; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France., Héron D; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France., Mignot C; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France., Keren B; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France., Whalen S; Unit of Genetics, APHP Sorbonne University, Trousseau Hospital, 75012 Paris, France., Afenjar A; Unit of Genetics, APHP Sorbonne University, Trousseau Hospital, 75012 Paris, France., Bienvenu T; Department of Molecular Genetics, Cochin Hospital, 75014 Paris, France., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada., Rousseau J; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada., Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada., Brick L; Genetic Division, Department of Pediatrics, McMaster University, Hamilton, ON L8S4K1, Canada., Kozenko M; Genetic Division, Department of Pediatrics, McMaster University, Hamilton, ON L8S4K1, Canada., Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada., Siu VM; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada., Stuart A; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada., Kadour M; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A5W9 Canada; St. Joseph's Health Care London, London, ON N6A5W9 Canada., Masters J; Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON N6A5W9 Canada; St. Joseph's Health Care London, London, ON N6A5W9 Canada., Takano K; Center for Medical Genetics, Shinshu University Hospital, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Center for Medical Neuroscience, 6525 GA Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Center for Medical Neuroscience, 6525 GA Nijmegen, the Netherlands., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia., Shaw M; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia., Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5005, Australia., Ainsworth PJ; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada., Lin H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada., Rodenhiser DI; Children's Health Research Institute, London, ON N6A3K7, Canada; Department of Biochemistry, Western University, London, ON N6A3K7, Canada., Friez MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Tedder M; Greenwood Genetic Center, Greenwood, SC 29646, USA., Lee JA; Greenwood Genetic Center, Greenwood, SC 29646, USA., DuPont BR; Greenwood Genetic Center, Greenwood, SC 29646, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Schwartz CE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Genevieve D; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1183-Institute for Regenerative Medicine and Biotherapy, Montpellier University, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France., Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address: Bekim.Sadikovic@lhsc.on.ca.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Mar 05; Vol. 106 (3), pp. 356-370. Date of Electronic Publication: 2020 Feb 27.
Autor:
Van Herpe F; Department of Internal Medicine, University Hospitals Leuven, Leuven, Belgium., Waterham HR; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands., Adams CJ; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA., Mannens M; Department of Clinical Genetics, Genome Diagnostics Laboratory, Academic Medical Center, Amsterdam, The Netherlands., Bikker H; Department of Clinical Genetics, Genome Diagnostics Laboratory, Academic Medical Center, Amsterdam, The Netherlands., Vaz FM; Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands., Cassiman D; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium. david.cassiman@kuleuven.be.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2017 May; Vol. 40 (3), pp. 313-315. Date of Electronic Publication: 2017 Mar 10.
Autor:
Eggermann K; Institut für Humangenetik, RWTH University Aachen, Aachen, Germany., Bliek J; Department of Clinical Genetics, Academic Center, University of Amsterdam, Amsterdam, The Netherlands., Brioude F; INSERM, UMR_S 938, Paris, France.; Sorbonne Universities, UPMC Univ Paris 06; UMR_S 938, Paris, France.; Armand Trousseau Hospital, Pediatric Endocrinology, Paris, France., Algar E; Genetics and Molecular Pathology Laboratory, Monash Health and Hudson Institute, Clayton, VIC, Australia., Buiting K; Institut für Humangenetik, Universität Duisburg-Essen, Essen, Germany., Russo S; Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano IRCCS, Milano, Italy., Tümer Z; Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, Denmark., Monk D; Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Barcelona, Spain., Moore G; Fetal Growth and Developmental Group, Genetics and Genomic Medicine Programme, UCL-ICH, London, UK., Antoniadi T; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, UK., Macdonald F; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, UK., Netchine I; INSERM, UMR_S 938, Paris, France.; Sorbonne Universities, UPMC Univ Paris 06; UMR_S 938, Paris, France.; Armand Trousseau Hospital, Pediatric Endocrinology, Paris, France., Lombardi P; Department of Clinical Genetics, Academic Center, University of Amsterdam, Amsterdam, The Netherlands., Soellner L; Institut für Humangenetik, RWTH University Aachen, Aachen, Germany., Begemann M; Institut für Humangenetik, RWTH University Aachen, Aachen, Germany., Prawitt D; Center for Pediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany., Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK., Mannens M; Department of Clinical Genetics, Academic Center, University of Amsterdam, Amsterdam, The Netherlands., Riccio A; DiSTABiF, Seconda Università degli Studi di Napoli, Caserta, Italy.; Institute of Genetics and Biophysics - ABT, CNR, Napoli, Italy., Weksberg R; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Departments of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada., Lapunzina P; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, CIBERER, ISCIII, Madrid, Spain., Grønskov K; Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, Denmark., Mackay DJ; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Eggermann T; Institut für Humangenetik, RWTH University Aachen, Aachen, Germany.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Oct; Vol. 24 (10), pp. 1377-87. Date of Electronic Publication: 2016 May 11.