Your browser doesn't support javascript.
loading
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble, Smitha; Levy, Amanda M; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J; Berger, Sara M; Bjerglund, Lise; Campos-Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S; Comi, Anne M; Curry, Cynthia; Damaj, Lena; Denommé-Pichon, Anne-Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fiévet, Alice; Finkel, Richard S; García-Miñaúr, Sixto; Gerard, Amanda; Gomez-Puertas, Paulino; Guillen Sacoto, Maria J; Hoffman, Trevor L; Howard, Lillian; Iglesias, Alejandro D; Izumi, Kosuke; Larson, Austin; Leiber, Anja; Lozano, Reymundo; Marcos-Alcalde, Iñigo; Mintz, Cassie S; Mullegama, Sureni V; Møller, Rikke S; Odent, Sylvie; Oppermann, Henry; Ostergaard, Elsebet; Pacio-Míguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Paulson, Anna M; Platzer, Konrad; Posey, Jennifer E; Potocki, Lorraine; Revah-Politi, Anya; Rio, Marlene; Ritter, Alyssa L; Robinson, Scott.
  • Kumble S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
  • Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Punetha J; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Gao H; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
  • Ah Mew N; Department of Review Analysis, GeneDx LLC, Maryland, USA.
  • Anyane-Yeboa K; Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, USA.
  • Benke PJ; Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA.
  • Berger SM; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
  • Bjerglund L; Department of Pediatrics, Columbia University Irving Medical Center, New York City, New York, USA.
  • Campos-Xavier B; Department of Pediatrics, University Hospital Hvidovre, Hvidovre, Denmark.
  • Ciliberto M; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Cohen JS; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne (CHUV), Lausanne, Switzerland.
  • Comi AM; Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.
  • Curry C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Damaj L; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Denommé-Pichon AS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Emrick L; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Faivre L; Deptartment of Pediatrics, Genetic Medicine, UCSF/Fresno, Fresno, California, USA.
  • Fasano MB; Service de pédiatrie et de génétique clinique, CHU Rennes, Rennes, France.
  • Fiévet A; INSERM UMR1231 Equipe GAD, Université de Bourgogne, Dijon, France.
  • Finkel RS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • García-Miñaúr S; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Gerard A; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Gomez-Puertas P; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
  • Guillen Sacoto MJ; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
  • Hoffman TL; Internal Medicine & Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
  • Howard L; Laboratoire de biologie médicale multisites Seqoia-FMG2025, Paris, France.
  • Iglesias AD; Service Génétique des Tumeurs, Gustave Roussy, Villejuif, France.
  • Izumi K; Nemours Children's Hospital, Orlando, Florida, USA.
  • Larson A; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
  • Leiber A; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Idipaz, Madrid, Spain.
  • Lozano R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain.
  • Marcos-Alcalde I; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Mintz CS; Texas Children's Hospital, Houston, Texas, USA.
  • Mullegama SV; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBMSO, CSIC-UAM), Madrid, Spain.
  • Møller RS; Clinical Genomics Program, GeneDx, Maryland, USA.
  • Odent S; Regional Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, California, USA.
  • Oppermann H; Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.
  • Ostergaard E; Division of Clinical Genetics, Columbia University Irving Medical Center, New York City, New York, USA.
  • Pacio-Míguez M; Divison of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Palomares-Bralo M; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Parikh S; Department of Neuropediatrics, Childrens Hospital of Eastern Switzerland St. Gallen, St. Gallen, Switzerland.
  • Paulson AM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
  • Platzer K; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBMSO, CSIC-UAM), Madrid, Spain.
  • Posey JE; Biosciences Research Institute, School of Experimental Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcón, Madrid, Spain.
  • Potocki L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
  • Revah-Politi A; Clinical Genomics Program, GeneDx, Maryland, USA.
  • Rio M; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.
  • Ritter AL; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Robinson S; CHU Rennes, Hôpital Sud, Service de Génétique Clinique, Univ Rennes, CNRS IGDR UMR 6290, Centre de référence Anomalies du développement CLAD-Ouest, ERN ITHACA, Rennes, France.
Hum Mutat ; 43(2): 266-282, 2022 02.
Article en En | MEDLINE | ID: mdl-34859529
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Escoliosis / Enanismo / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Escoliosis / Enanismo / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article