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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
Zazo Seco, Celia; Serrão de Castro, Luciana; van Nierop, Josephine W; Morín, Matías; Jhangiani, Shalini; Verver, Eva J J; Schraders, Margit; Maiwald, Nadine; Wesdorp, Mieke; Venselaar, Hanka; Spruijt, Liesbeth; Oostrik, Jaap; Schoots, Jeroen; van Reeuwijk, Jeroen; Lelieveld, Stefan H; Huygen, Patrick L M; Insenser, María; Admiraal, Ronald J C; Pennings, Ronald J E; Hoefsloot, Lies H; Arias-Vásquez, Alejandro; de Ligt, Joep; Yntema, Helger G; Jansen, Joop H; Muzny, Donna M; Huls, Gerwin; van Rossum, Michelle M; Lupski, James R; Moreno-Pelayo, Miguel Angel; Kunst, Henricus P M; Kremer, Hannie.
Afiliação
  • Zazo Seco C; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Serrão de Castro L; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Madrid 28034, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28034, Spain.
  • van Nierop JW; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Morín M; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Madrid 28034, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28034, Spain.
  • Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Verver EJ; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Schraders M; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Maiwald N; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Wesdorp M; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Spruijt L; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Oostrik J; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Schoots J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Lelieveld SH; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Huygen PL; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Insenser M; Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Instituto Ramón y Cajal de Investigación Sanitaria, Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas, Madrid 28034, Spain.
  • Admiraal RJ; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Pennings RJ; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Hoefsloot LH; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Arias-Vásquez A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Psychiatry, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Cognitive Neuroscience, Radboud Univers
  • de Ligt J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Jansen JH; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Hematology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Huls G; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Hematology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • van Rossum MM; Department of Dermatology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Moreno-Pelayo MA; Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Madrid 28034, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28034, Spain.
  • Kunst HP; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands.
  • Kremer H; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Human Genetics, Radboud Universi
Am J Hum Genet ; 97(5): 647-60, 2015 Nov 05.
Article em En | MEDLINE | ID: mdl-26522471
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg / Fator de Células-Tronco / Perda Auditiva Unilateral / Ligação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg / Fator de Células-Tronco / Perda Auditiva Unilateral / Ligação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos