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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Autor: Bosch E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Güse E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Skinner C; Greenwood Genetic Center, Greenwood, SC., van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Bruno LP; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Granata S; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Marcelis C; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Baysal Ö; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Hartwich D; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Holthöfer L; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Cogne B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., De Marco P; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ognibene M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital, Atrium Health, Charlotte, NC., Kuismin O; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Cuscó I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Martinez-Agosto JA; Departments of Human Genetics, Pediatrics, and Psychiatry, UCLA David Geffen School of Medicine, Los Angeles, CA., Rabani AM; Department of Pediatrics & Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Close C; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Wagner M; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Hannibal MC; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Thiffault I; Department of Pediatrics and Pathology, Genomic Medicine Center, Children's Mercy Kansas City and Children's Mercy Research Institute, Kansas City, MO., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada., McGinnis E; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Millichap J; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., van de Kamp JM; Department of Human Genetics, Amsterdam UMC, location VU Medical Center, Amsterdam, The Netherlands., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC., Dobson A; Greenwood Genetic Center, Greenwood, SC., Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Garcia EJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Galindo MK; Department of Pediatrics, University of Arizona, Tucson, AZ., Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, The Netherlands., Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hubbard G; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Karimov C; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Goj G; Vestische Kinder- und Jugendklinik, Datteln, Germany., Bend R; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Rath J; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Morrow MM; GeneDx, Gaithersburg, MD., Millan F; GeneDx, Gaithersburg, MD., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Kurki M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Zweier M; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany. Electronic address: georgia.vasileiou@uk-erlangen.de.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100950. Date of Electronic Publication: 2023 Aug 05.

SLC26A1 is a major determinant of sulfate homeostasis in humans.

Autor: Pfau A; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany., López-Cayuqueo KI; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and Max-Delbrück-Centrum für Molekulare Medizin (MDC), Berlin, Germany., Scherer N; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center and.; Spemann Graduate School of Biology and Medicine (SGBM), University of Freiburg, Freiburg, Germany., Wuttke M; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center and., Wernstedt A; SYNLAB MVZ Humane Genetik, Munich, Germany., González Fassrainer D; SYNLAB MVZ Humane Genetik, Munich, Germany., Smith DE; Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience and., van de Kamp JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Ziegeler K; Department of Radiology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Eckardt KU; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Luft FC; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany., Aronson PS; Department of Internal Medicine, Section of Nephrology, Yale University School of Medicine, New Haven, Connecticut, USA., Köttgen A; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center and.; CIBSS - Centre for Integrative Biological Signalling Studies, Albert-Ludwigs-University Freiburg, Freiburg, Germany., Jentsch TJ; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and Max-Delbrück-Centrum für Molekulare Medizin (MDC), Berlin, Germany.; NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany., Knauf F; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Department of Internal Medicine, Section of Nephrology, Yale University School of Medicine, New Haven, Connecticut, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2023 Feb 01; Vol. 133 (3). Date of Electronic Publication: 2023 Feb 01.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Autor: Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 Utrecht, the Netherlands., Duran K; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 Utrecht, the Netherlands., Knapp K; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand., Fellner M; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand., Smithson S; Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK., Beleza Meireles A; Bristol Regional Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol BS2 8EG, UK., Elting MW; Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands., Waisfisz Q; Amsterdam UMC, Afdeling Klinische genetica, 1081 Amsterdam, the Netherlands., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Nowak C; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Douglas J; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Ronan A; Clinical Genetics, Hunter Genetics Unit, Waratah, NSW 2298, Australia., Brunet T; Institute of Medical Genetics, 81675 Munchen, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Department of Pediatrics, Heidelberg University Hospital, 69120 Heidelberg, Germany., Svihovec S; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Saenz MS; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Genomic Medicine, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Del Viso F; Center for Genomic Medicine, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Devine P; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Rego S; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Tenney J; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Koene S; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Deshpande C; Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Verbeek N; Department of Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, the Netherlands., van de Kamp JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Weiss JMM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain., Banne E; Kaplan Medical Center, Clalit Health Services, Rehovot 76100, Israel., Pepler A; Praxis für Humangenetik Tübingen, 72076 Tuebingen, Germany., Bottani A; Service of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Laurent S; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland., Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1211, Switzerland., Bijlsma E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Bruel AL; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, 21078 Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon Bourgogne University Hospital, 21079 Dijon, France., Sorlin A; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs,' Centre de Génétique, FHU-TRANSLAD, Dijon Bourgogne University Hospital, 21079 Dijon, France., Willis M; Department of Pediatrics, Naval Medical Center San Diego, San Diego, CA 92134, USA., Powis Z; Ambry Genetics, CA 92656, USA., Smol T; Univ. Lille, RADEME EA7364, CHU Lille, Institut de Génétique Médicale, 59000 Lille, France., Vincent-Delorme C; Department of Clinical Genetics, CHU Lille, 59000 Lille, France., Baralle D; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK., Colin E; Service de Génétique Médicale, CHU d'Angers, 49933 Angers, France., Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Brussels, Belgium., Calpena E; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK., Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Cormier-Daire V; Université de Paris, Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015 Paris, France., Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France., Afenjar A; CRMR Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique, Sorbonne Université, AP-HP, Hôpital Trousseau, 75012 Paris, France., Niceta M; Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Terracciano A; Area di Ricerca Medicina Multimodale di Laboratorio, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Specchio N; Area di Ricerca Scienze Neurologiche e Medicina Riabilitativa, Ospedale Pediatrico Bambino Gesù, IRCCS, 00163 Rome, Italy., Tartaglia M; Area di Ricerca Genetica e Malattie Rare, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Rio M; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France., Barcia G; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France., Rondeau S; Department of Genetics, Necker Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cité University, 75015 Paris, France., Colson C; CHU Lille, Clinique de Génétique, 59000 Lille, France., Bakkers J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 Utrecht, the Netherlands; Department of Pediatric Cardiology, Division of Pediatrics, University Medical Center Utrecht, 3584 Utrecht, the Netherlands., Mace PD; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand., Bicknell LS; Department of Biochemistry, University of Otago, Dunedin 9016, New Zealand. Electronic address: louise.bicknell@otago.ac.nz., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 Utrecht, the Netherlands. Electronic address: g.vanhaaften@umcutrecht.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Apr 07; Vol. 109 (4), pp. 750-758. Date of Electronic Publication: 2022 Feb 23.