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Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Ravindran, Ethiraj; Jühlen, Ramona; Vieira-Vieira, Carlos H; Ha, Thuong; Salzberg, Yuval; Fichtman, Boris; Luise-Becker, Lena; Martins, Nuno; Picker-Minh, Sylvie; Bessa, Paraskevi; Arts, Peer; Jackson, Matilda R; Taranath, Ajay; Kamien, Benjamin; Barnett, Christopher; Li, Na; Tarabykin, Victor; Stoltenburg-Didinger, Gisela; Harel, Amnon; Selbach, Matthias; Dickmanns, Achim; Fahrenkrog, Birthe; Hu, Hao; Scott, Hamish; Kaindl, Angela M.
Afiliación
  • Ravindran E; Charité - Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Berlin, 10117, Germany.
  • Jühlen R; Charité - Universitätsmedizin Berlin, Department of Pediatric Neurology, Berlin, 13353, Germany.
  • Vieira-Vieira CH; Charité - Universitätsmedizin Berlin, Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Berlin 13353, Germany.
  • Ha T; Institute of Molecular Biology and Medicine, Université Libre de Bruxelles, Charleroi, 6041, Belgium.
  • Salzberg Y; Proteome Dynamics Lab, Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, 13125, Germany.
  • Fichtman B; Humboldt-Universität zu Berlin, Faculty of Life Sciences, Berlin, 10099, Germany.
  • Luise-Becker L; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, 5000, Australia.
  • Martins N; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, 5000, SA, Australia.
  • Picker-Minh S; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, 1311502, Israel.
  • Bessa P; Azrieli Faculty of Medicine, Bar-Ilan University, Safed, 1311502, Israel.
  • Arts P; Charité - Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Berlin, 10117, Germany.
  • Jackson MR; Charité - Universitätsmedizin Berlin, Department of Pediatric Neurology, Berlin, 13353, Germany.
  • Taranath A; Charité - Universitätsmedizin Berlin, Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Berlin 13353, Germany.
  • Kamien B; Institute of Molecular Biology and Medicine, Université Libre de Bruxelles, Charleroi, 6041, Belgium.
  • Barnett C; Charité - Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Berlin, 10117, Germany.
  • Li N; Charité - Universitätsmedizin Berlin, Department of Pediatric Neurology, Berlin, 13353, Germany.
  • Tarabykin V; Charité - Universitätsmedizin Berlin, Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Berlin 13353, Germany.
  • Stoltenburg-Didinger G; Charité - Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Berlin, 10117, Germany.
  • Harel A; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, 5000, Australia.
  • Selbach M; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, 5000, Australia.
  • Dickmanns A; Australian Genomic Health Alliance, Melbourne, VIC, 3052, Australia.
  • Fahrenkrog B; Department of Medical imaging, South Australia Medical Imaging, Women's and Children's Hospital, North Adelaide, 5006, SA, Australia.
  • Hu H; Genetic Services of Western Australia, Perth, 6008, Australia.
  • Scott H; Australian Genomic Health Alliance, Melbourne, VIC, 3052, Australia.
  • Kaindl AM; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, 5006, SA, Australia.
Hum Mol Genet ; 30(22): 2068-2081, 2021 11 01.
Article en En | MEDLINE | ID: mdl-34170319
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Proteínas de Complejo Poro Nuclear / Enanismo / Microcefalia / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Proteínas de Complejo Poro Nuclear / Enanismo / Microcefalia / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Alemania