Your browser doesn't support javascript.
loading
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M L; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L; Brais, Bernard; Sylvain, Michel; Sébire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia.
Afiliação
  • Pelletier F; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Perrier S; Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Cayami FK; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Mirchi A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  • Saikali S; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.
  • Tran LT; Division of Child Neurology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada.
  • Ulrick N; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Guerrero K; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  • Rampakakis E; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • van Spaendonk RML; Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
  • Naidu S; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Pohl D; Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Gibson WT; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Demos M; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  • Goizet C; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.
  • Tejera-Martin I; Department of Pathology, Centre Hospitalier Universitaire de Québec, Québec City, QC, Canada.
  • Potic A; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Fogel BL; Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Brais B; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Sylvain M; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  • Sébire G; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Lourenço CM; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Bonkowsky JL; Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Catsman-Berrevoets C; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Pinto PS; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  • Tirupathi S; Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Strømme P; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • de Grauw T; Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
  • Gieruszczak-Bialek D; Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
  • Krägeloh-Mann I; Department of Medical Genetics, University of British Columbia, BC Children's Hospital Research Institute, Vancouver, BC, Canada.
  • Mierzewska H; Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.
  • Philippi H; Centre de Référence Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital, and Laboratoire MRGM, INSERM U1211, Université de Bordeaux, Bordeaux, France.
  • Rankin J; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.
  • Atik T; Department of Neurology, Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, Belgrade, Serbia.
  • Banwell B; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
  • Benko WS; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Blaschek A; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Bley A; Montreal Neurological Institute, Montreal, QC, Canada.
  • Boltshauser E; Centre Mère Enfant, CHU de Québec, Québec City, QC, Canada.
  • Bratkovic D; Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Brozova K; Department of Pediatrics, Université de Sherbrooke, Sherbrooke, QC, Canada.
  • Cimas I; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil.
  • Clough C; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Corenblum B; Department of Paediatric Neurology, Erasmus University Hospital - Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands.
  • Dinopoulos A; Neuroradiology Department, Centro Hospitalar do Porto, Porto, Portugal.
  • Dolan G; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK.
  • Faletra F; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, Ullevål, 0450 Oslo, and University of Oslo, Oslo, Norway.
  • Fernandez R; Department of Pediatrics, Emory School of Medicine, Atlanta, GA, USA.
  • Fletcher J; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
  • Garcia Garcia ME; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland.
J Clin Endocrinol Metab ; 106(2): e660-e674, 2021 01 23.
Article em En | MEDLINE | ID: mdl-33005949
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA Polimerases Dirigidas por DNA / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Doenças Mitocondriais / Doenças do Sistema Endócrino / Transtornos do Crescimento Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA Polimerases Dirigidas por DNA / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Doenças Mitocondriais / Doenças do Sistema Endócrino / Transtornos do Crescimento Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Clin Endocrinol Metab Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos