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Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
Taskiran, Ekim Z; Korkmaz, Emine; Gucer, Safak; Kosukcu, Can; Kaymaz, Figen; Koyunlar, Cansu; Bryda, Elizabeth C; Chaki, Moumita; Lu, Dongmei; Vadnagara, Komal; Candan, Cengiz; Topaloglu, Rezan; Schaefer, Franz; Attanasio, Massimo; Bergmann, Carsten; Ozaltin, Fatih.
Afiliación
  • Taskiran EZ; Nephrogenetics Laboratory, andDepartments of Medical Genetics.
  • Korkmaz E; Nephrogenetics Laboratory, and.
  • Gucer S; Pediatric Pathology.
  • Kosukcu C; Nephrogenetics Laboratory, and.
  • Kaymaz F; Histology and Embryology, and.
  • Koyunlar C; Nephrogenetics Laboratory, and.
  • Bryda EC; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, Missouri;
  • Chaki M; Department of Internal Medicine, and.
  • Lu D; Department of Internal Medicine, and.
  • Vadnagara K; Department of Internal Medicine, and.
  • Candan C; **Department of Pediatric Nephrology, Istanbul Medeniyet University, Istanbul, Turkey;
  • Topaloglu R; Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey;
  • Schaefer F; Pediatric Nephrology Division, Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany;
  • Attanasio M; Department of Internal Medicine, andEugene McDermott Center for Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas;
  • Bergmann C; Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Nephrology and Center for Clinical Research, University Hospital, Freiburg, Germany; and.
  • Ozaltin F; Nephrogenetics Laboratory, andPediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey; Hacettepe University Center for Biobanking and Genomics, Ankara, Turkey fozaltin@hacettepe.edu.tr.
J Am Soc Nephrol ; 25(8): 1653-61, 2014 Aug.
Article en En | MEDLINE | ID: mdl-24610927
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Nucleares / Enfermedades Renales Quísticas / Fallo Renal Crónico / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Am Soc Nephrol Asunto de la revista: NEFROLOGIA Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Nucleares / Enfermedades Renales Quísticas / Fallo Renal Crónico / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Am Soc Nephrol Asunto de la revista: NEFROLOGIA Año: 2014 Tipo del documento: Article