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Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
Rosti, Rasim Ozgur; Sotak, Bethany N; Bielas, Stephanie L; Bhat, Gifty; Silhavy, Jennifer L; Aslanger, Ayca Dilruba; Altunoglu, Umut; Bilge, Ilmay; Tasdemir, Mehmet; Yzaguirrem, Amanda D; Musaev, Damir; Infante, Sofia; Thuong, Whitney; Marin-Valencia, Isaac; Nelson, Stanley F; Kayserili, Hulya; Gleeson, Joseph G.
Afiliação
  • Rosti RO; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Sotak BN; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.
  • Bhat G; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA.
  • Silhavy JL; Division of Pediatric Genetics, The Children's Hospital at Montefiore, Bronx, Bronx, New York, USA.
  • Aslanger AD; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Altunoglu U; Department of Medical Genetics, Koç University Hospital, Istanbul 34010, Turkey.
  • Bilge I; Department Medical Genetics, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey.
  • Tasdemir M; Department of Pediatric Nephrology, Koç University Hospital, Istanbul, Turkey.
  • Yzaguirrem AD; Department of Pediatric Nephrology, Koç University Hospital, Istanbul, Turkey.
  • Musaev D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Infante S; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Thuong W; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Marin-Valencia I; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.
  • Nelson SF; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA.
  • Kayserili H; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.
  • Gleeson JG; Department of Medical Genetics, Koç University Hospital, Istanbul 34010, Turkey.
J Med Genet ; 54(6): 399-403, 2017 06.
Article em En | MEDLINE | ID: mdl-28280135
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esteroides / Complexo de Proteínas Formadoras de Poros Nucleares / Hérnia Hiatal / Microcefalia / Mutação / Nefrose / Síndrome Nefrótica Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esteroides / Complexo de Proteínas Formadoras de Poros Nucleares / Hérnia Hiatal / Microcefalia / Mutação / Nefrose / Síndrome Nefrótica Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos