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Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic.

Autor: Kirwin SM; Nemours Children's Health, Molecular Diagnostics Laboratory., Robbins KM; Nemours Children's Health, Molecular Diagnostics Laboratory., Vinette KMB; Nemours Children's Health, Molecular Diagnostics Laboratory., Hirata L; Nemours Children's Health, Molecular Diagnostics Laboratory., Gripp KW; Nemours Children's Health, Molecular Diagnostics Laboratory., Funanage VL; Nemours Children's Health, Molecular Diagnostics Laboratory.

Publikováno v: Delaware journal of public health [Dela J Public Health] 2021 Dec 15; Vol. 7 (5), pp. 24-27. Date of Electronic Publication: 2021 Dec 15 (Print Publication: 2021).

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Autor: Pelletier F; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Division of Child Neurology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada., Perrier S; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Cayami FK; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Mirchi A; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada., Saikali S; Department of Pathology, Centre Hospitalier Universitaire de Québec, Québec City, QC, Canada., Tran LT; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Ulrick N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Guerrero K; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Rampakakis E; Department of Pediatrics, McGill University, Montreal, QC, Canada., van Spaendonk RML; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA., Pohl D; Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Gibson WT; Department of Medical Genetics, University of British Columbia, BC Children's Hospital Research Institute, Vancouver, BC, Canada., Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada., Goizet C; Centre de Référence Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital, and Laboratoire MRGM, INSERM U1211, Université de Bordeaux, Bordeaux, France., Tejera-Martin I; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain., Potic A; Department of Neurology, Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, Belgrade, Serbia., Fogel BL; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Brais B; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Montreal Neurological Institute, Montreal, QC, Canada., Sylvain M; Centre Mère Enfant, CHU de Québec, Québec City, QC, Canada., Sébire G; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Pediatrics, Université de Sherbrooke, Sherbrooke, QC, Canada., Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil., Bonkowsky JL; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Catsman-Berrevoets C; Department of Paediatric Neurology, Erasmus University Hospital - Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands., Pinto PS; Neuroradiology Department, Centro Hospitalar do Porto, Porto, Portugal., Tirupathi S; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK., Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, Ullevål, 0450 Oslo, and University of Oslo, Oslo, Norway., de Grauw T; Department of Pediatrics, Emory School of Medicine, Atlanta, GA, USA., Gieruszczak-Bialek D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland., Krägeloh-Mann I; Department of Child Neurology, University Children's Hospital Tübingen, Tübingen, Germany., Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland., Philippi H; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany., Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Atik T; Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Banwell B; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Benko WS; Division of Pediatric Neurology, Department of Neurology, UC Davis Health System, Sacramento, CA, USA., Blaschek A; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Bley A; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Boltshauser E; Department of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland., Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Brozova K; Department of Child Neurology, Thomayers Hospital, Prague, Czech Republic., Cimas I; Department of Neurology, Povisa Hospital, Vigo, Spain., Clough C; Department of Neurology, King's College Hospital, London, UK., Corenblum B; Division of Endocrinology & Metabolism, Department of Medicine, University of Calgary, Calgary, AB, Canada., Dinopoulos A; Third Department of Pediatrics, National and Kapodistrian University of Athens, 'Attikon' Hospital, Athens, Greece., Dolan G; Bristow Pediatrics, Bristow, VA, USA., Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Fernandez R; Pediatric Neurology Associates, Tampa, FL, USA., Fletcher J; Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia., Garcia Garcia ME; Department of Neurology, The Royal London Hospital, London, UK., Gasparini P; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34100 Trieste, and University of Trieste, Trieste, Italy., Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany., Gonzalez Moron D; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia, ADC, Buenos Aires, Argentina., Hamati A; Department of Child Neurology, Indiana University, Indianapolis, IN, USA., Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany., Hertzberg C; Department of Child Neurology, Vivantes Klinikum, Berlin, Germany., Hill A; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Hobson GM; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada., Kauffman M; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET, ADC, Buenos Aires, Argentina., Kirwin SM; Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Kluger G; PMU Salzburg, 5020 Salzburg, Austria; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany., Kolditz P; Department of Child Neurology, Kantonsspital Luzern, Luzern, Switzerland., Kotzaeridou U; Department of Child Neurology, University Children's Hospital Heidelberg, Heidelberg, Germany., La Piana R; Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada., Liston E; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., McClintock W; Pediatric Specialists of Virginia, Fairfax, VA, USA.; Department of Neurology, Children's National Medical Center, Washington, DC, USA., McEntagart M; South West Thames Regional Genetics Service, St. George's Hospital, London, UK., McKenzie F; Genetic Services of Western Australia, Subiaco, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia., Melançon S; Department of Medical Genetics, McGill University Health Centre, Montreal Children's Hospital, Montreal, QC, Canada., Misbahuddin A; Essex Centre for Neurological Sciences, Queen's Hospital, Romford, UK., Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK., Monton FI; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain., Moutton S; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France., Murphy RPJ; Department of Neurology, Tallaght University Hospital, Tallaght, Ireland., Nickel M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Onay H; Department of Medical Genetics, Ege University, Izmir, Turkey., Orcesi S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Özkınay F; Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey., Patzer S; Children's Hospital St. Elisabeth and St. Barbara, Halle (Saale), Germany., Pedro H; Department of Pediatrics, The Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, NJ, USA., Pekic S; Clinic for Endocrinology, Diabetes and Diseases of Metabolism, University Clinical Center, Belgrade & School of Medicine, University of Belgrade, Belgrade, Serbia., Pineda Marfa M; Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu nº2, Barcelona, Spain., Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Genetics, MetroHealth Hospital, Cleveland, OH, USA., Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria., Poll-The BT; Department of Pediatric Neurology, Emma Children's Hospital, 1105 Amsterdam, The Netherlands., Popovic V; Medical Faculty, University of Belgrade, Belgrade, Serbia., Rating D; Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany., Rioux MF; Centre Hospitalier Universitaire de Sherbrooke - Hôpital Fleurimont, Sherbrooke, QC, Canada., Rodriguez Espinosa N; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain., Ronan A; Hunter New England LHD, University of Newcastle, NSW, Australia., Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Rossignol E; Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Université de Montréal, Montreal, QC, Canada., Sanchez-Carpintero R; Pediatric Neurology Unit, Department of Pediatrics, Clinica Universidad de Navarra, Pamplona, Spain., Schossig A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Senbil N; Department of Child Neurology, Kırıkkale University Medical Faculty, Kırıkkale, Turkey., Sønderberg Roos LK; Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Stevens CA; Department of Pediatrics, Division of Medical Genetics, University of Tennessee College of Medicine, Chattanooga, TN, USA., Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Sztriha L; Department of Paediatrics, University of Szeged, Szeged, Hungary., Tibussek D; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, 40225 Düsseldorf, Germany., Timmann D; Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Tonduti D; Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy., van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Vázquez-López M; Sección Neuropediatría. Hospital Maternoinfantil Gregorio Marañón, Madrid, Spain., Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Wasling P; Department of Neuroscience and Rehabilitation, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Wassmer E; Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK., Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery and the Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Wiegand G; Department of Pediatric Neurology, University Hospital Kiel, Germany.; Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany., Yoon G; Division of Clinical and Metabolic Genetics, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Rotteveel J; Emma Children's Hospital, Amsterdam UMC, Pediatric Endocrinology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Schiffmann R; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA., van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Martos-Moreno GÁ; Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; CIBER de Fisiopatologia de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain., Polychronakos C; Division of Endocrinology, Montreal Children's Hospital and the Endocrine Genetics Lab, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Jan 23; Vol. 106 (2), pp. e660-e674.

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

Autor: Hurd L; Department of Biological Sciences, University of Delaware, Newark, Delaware.; Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Kirwin SM; Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Boggs M; Department of Biological Sciences, University of Delaware, Newark, Delaware., Mackenzie WG; Department of Orthopaedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Bober MB; Department of Orthopaedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Division of Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Funanage VL; Department of Biological Sciences, University of Delaware, Newark, Delaware.; Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Duncan RL; Department of Biological Sciences, University of Delaware, Newark, Delaware.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Oct; Vol. 167A (10), pp. 2286-93. Date of Electronic Publication: 2015 Aug 06.