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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Blackburn, Alexandria T M; Bekheirnia, Nasim; Uma, Vanessa C; Corkins, Mark E; Xu, Yuxiao; Rosenfeld, Jill A; Bainbridge, Matthew N; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G; Al-Gazali, Lihadh; Mohamed Saeed Mohamed Al Shamsi, Aisha; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M; Scheuerle, Angela E; Kukolich, Mary K; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C; Lamb, Dolores J; Miller, Rachel K; Bekheirnia, Mir Reza.
Afiliación
  • Blackburn ATM; Department of Pediatrics, Pediatric Research Center, University of Texas Health Science Center, McGovern Medical School, Houston, TX, USA.
  • Bekheirnia N; Program in Genetics and Epigenetics, The University of Texas MD Anderson Cancer Center University of Texas Health Science Center Graduate School of Biomedical Sciences, Houston, TX, USA.
  • Uma VC; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Corkins ME; Texas Children's Hospital, Houston, TX, USA.
  • Xu Y; Baylor College of Medicine, Houston, TX, USA.
  • Rosenfeld JA; Baylor College of Medicine, Houston, TX, USA.
  • Bainbridge MN; Department of Pediatrics, Pediatric Research Center, University of Texas Health Science Center, McGovern Medical School, Houston, TX, USA.
  • Yang Y; Department of Psychiatry, Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
  • Liu P; Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA.
  • Madan-Khetarpal S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Delgado MR; Codified Genomics, LLC, Houston, TX, USA.
  • Hudgins L; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Krantz I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Rodriguez-Buritica D; Baylor Genetics, Houston, TX, USA.
  • Wheeler PG; Baylor College of Medicine, Houston, TX, USA.
  • Al-Gazali L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Mohamed Saeed Mohamed Al Shamsi A; Baylor Genetics, Houston, TX, USA.
  • Gomez-Ospina N; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  • Chao HT; Department of neurology and Neurotherapeutics, The University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Mirzaa GM; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA.
  • Scheuerle AE; Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics, Perelman School of medicine at University of Pennsylvania, Philadelphia, PA, USA.
  • Kukolich MK; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
  • Scaglia F; Arnold Palmer Hospital, Orlando, FL, USA.
  • Eng C; College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
  • Willsey HR; Paediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.
  • Braun MC; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA.
  • Lamb DJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Miller RK; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.
  • Bekheirnia MR; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.
Genet Med ; 21(12): 2755-2764, 2019 12.
Article en En | MEDLINE | ID: mdl-31263215
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Urogenitales / Proteínas Tirosina Quinasas / Proteínas Serina-Treonina Quinasas / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Urogenitales / Proteínas Tirosina Quinasas / Proteínas Serina-Treonina Quinasas / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos