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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Bekheirnia, Mir Reza; Bekheirnia, Nasim; Bainbridge, Matthew N; Gu, Shen; Coban Akdemir, Zeynep Hande; Gambin, Tomek; Janzen, Nicolette K; Jhangiani, Shalini N; Muzny, Donna M; Michael, Mini; Brewer, Eileen D; Elenberg, Ewa; Kale, Arundhati S; Riley, Alyssa A; Swartz, Sarah J; Scott, Daryl A; Yang, Yaping; Srivaths, Poyyapakkam R; Wenderfer, Scott E; Bodurtha, Joann; Applegate, Carolyn D; Velinov, Milen; Myers, Angela; Borovik, Lior; Craigen, William J; Hanchard, Neil A; Rosenfeld, Jill A; Lewis, Richard Alan; Gonzales, Edmond T; Gibbs, Richard A; Belmont, John W; Roth, David R; Eng, Christine; Braun, Michael C; Lupski, James R; Lamb, Dolores J.
Afiliación
  • Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Bekheirnia N; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.
  • Bainbridge MN; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.
  • Gu S; Texas Children's Hospital, Houston, Texas, USA.
  • Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gambin T; Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.
  • Janzen NK; Texas Children's Hospital, Houston, Texas, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Michael M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Brewer ED; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Elenberg E; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.
  • Kale AS; Texas Children's Hospital, Houston, Texas, USA.
  • Riley AA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Swartz SJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Scott DA; Texas Children's Hospital, Houston, Texas, USA.
  • Yang Y; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Srivaths PR; Texas Children's Hospital, Houston, Texas, USA.
  • Wenderfer SE; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Bodurtha J; Texas Children's Hospital, Houston, Texas, USA.
  • Applegate CD; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Velinov M; Texas Children's Hospital, Houston, Texas, USA.
  • Myers A; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Borovik L; Texas Children's Hospital, Houston, Texas, USA.
  • Craigen WJ; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Hanchard NA; Texas Children's Hospital, Houston, Texas, USA.
  • Rosenfeld JA; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gonzales ET; Texas Children's Hospital, Houston, Texas, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Belmont JW; Texas Children's Hospital, Houston, Texas, USA.
  • Roth DR; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Eng C; Texas Children's Hospital, Houston, Texas, USA.
  • Braun MC; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; Johns Hopkins Children's Center, Institute of Genetic Medicine, Baltimore, Maryland, USA.
  • Lamb DJ; Johns Hopkins Children's Center, Institute of Genetic Medicine, Baltimore, Maryland, USA.
Genet Med ; 19(4): 412-420, 2017 04.
Article en En | MEDLINE | ID: mdl-27657687
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Urogenitales / Reflujo Vesicoureteral / Predisposición Genética a la Enfermedad / Variaciones en el Número de Copia de ADN / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Urogenitales / Reflujo Vesicoureteral / Predisposición Genética a la Enfermedad / Variaciones en el Número de Copia de ADN / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos