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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati, Parisa; Revah-Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G; Ramsey, Keri; Griffin, Nicole G; Bier, Louise; Cho, Megan T; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L; Sands, Tristan T; Narayanan, Vinodh; Primiano, Michelle; Aggarwal, Vimla S; Millan, Francisca; Sattler-Holtrop, Shannon G; Caro-Llopis, Alfonso; Pillar, Nir; Baker, Janice; Freedman, Rebecca; Kroes, Hester Y; Sacharow, Stephanie; Stong, Nick; Lapunzina, Pablo; Schneider, Michael C; Mendelsohn, Nancy J; Singleton, Amanda; Loik Ramey, Valerie; Wou, Karen; Kuzminsky, Alla; Monfort, Sandra; Weiss, Monica; Doyle, Samantha; Iglesias, Alejandro; Martinez, Francisco; Mckenzie, Fiona; Orellana, Carmen; van Gassen, Koen L I; Palomares, Maria; Bazak, Lily; Lee, Andy; Bircher, Ana; Basel-Vanagaite, Lina; Hafström, Maria; Houge, Gunnar.
Afiliação
  • Hemati P; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Bassan H; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Petrovski S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Bilancia CG; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, Victoria, Australia.
  • Ramsey K; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York.
  • Griffin NG; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Bier L; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Cho MT; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Rosello M; GeneDx, Gaithersburg, Maryland.
  • Lynch SA; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.
  • Colombo S; Temple Street Children's University Hospital, Dublin, Ireland.
  • Weber A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Haug M; Department of Clinical Genetics, Liverpool Women's Hospital, Liverpool, United Kingdom.
  • Heinzen EL; Department of Medical Genetics, St. Olav's University Hospital, Trondheim, Norway.
  • Sands TT; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Narayanan V; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Primiano M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Aggarwal VS; Department of Pediatrics, Children's Hospital of New York-Presbyterian, New York, New York.
  • Millan F; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Sattler-Holtrop SG; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York.
  • Caro-Llopis A; GeneDx, Gaithersburg, Maryland.
  • Pillar N; Carle Physician Group, Urbana, Illinois.
  • Baker J; Department of Genetics, Le Bonheur Children's Hospital, Memphis, Tennessee.
  • Freedman R; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.
  • Kroes HY; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Sacharow S; Genomics Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
  • Stong N; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
  • Lapunzina P; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.
  • Schneider MC; Department of Genetics, University Medical Center Utrecht, The Netherlands.
  • Mendelsohn NJ; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Singleton A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
  • Loik Ramey V; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.
  • Wou K; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain.
  • Kuzminsky A; Carle Physician Group, Urbana, Illinois.
  • Monfort S; Biochemical Genetics, Neurology Division, St Christopher's Hospital for Children, Philadelphia, Pennsylvania.
  • Weiss M; Genomics Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
  • Doyle S; GeneDx, Gaithersburg, Maryland.
  • Iglesias A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Martinez F; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York.
  • Mckenzie F; Child development Center, Clalit Health Service, Netanya, Israel.
  • Orellana C; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.
  • van Gassen KLI; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Palomares M; Temple Street Children's University Hospital, Dublin, Ireland.
  • Bazak L; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York.
  • Lee A; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.
  • Bircher A; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
  • Basel-Vanagaite L; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.
  • Hafström M; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain.
  • Houge G; Department of Genetics, University Medical Center Utrecht, The Netherlands.
Am J Med Genet A ; 176(11): 2259-2275, 2018 11.
Article em En | MEDLINE | ID: mdl-30194818
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Subunidades beta da Proteína de Ligação ao GTP / Estudos de Associação Genética / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Subunidades beta da Proteína de Ligação ao GTP / Estudos de Associação Genética / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article