DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
Year: 2019
Type: article
Study design: Observational Study
Source: Genetics in Medicine
Authors: Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma, Mark E. Corkins, Yuxiao Xu, Jill A. Rosenfeld, Matthew N. Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan-Khetarpal, Mauricio R. Delgado, Louanne Hudgins, Ian Krantz, David Rodriguez-Buritica, Patricia G. Wheeler, Lihadh Al-Gazali, Aisha Mohamed Saeed Mohamed Al Shamsi, Natalia Gomez-Ospina, Hsiao-Tuan Chao, Ghayda M. Mirzaa, Angela E. Scheuerle, Mary K. Kukolich, Fernando Scaglia, Christine Eng, Helen Rankin Willsey, Michael C. Braun, Dolores J. Lamb, Rachel K. Miller, Mir Reza Bekheirnia
Institutions: The University of Texas MD Anderson Cancer Center, The University of Texas Health Science Center at Houston, Baylor College of Medicine, Texas Children's Hospital, University of California, San Francisco, University of California, Berkeley, Rady Children's Institute for Genomic Medicine, Baylor Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, The University of Texas Southwestern Medical Center, Stanford Medicine, Stanford University, Children's Hospital of Philadelphia, University of Pennsylvania, Arnold Palmer Hospital for Children, United Arab Emirates University, Tawam Hospital, Robert and Janice McNair Foundation, University of Washington, Seattle Children's Research Institute, Cook Children's Medical Center, Prince of Wales Hospital, Weill Cornell Medicine
Language: English
Subfield: Urology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Funders: Baylor College of Medicine, University of Texas Health Science Center at Houston, McGovern Medical School, University of California, San Francisco, National Institute of Mental Health, National Institute of General Medical Sciences, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Neurological Disorders and Stroke
Awards: The Role of Planar Cell Polarity Signals in Shaping Kidney Tubules, G3562692227, The Psychiatric Cell Map Initiative: Connecting Genomics, Subcellular Networks, and Higher Order Phenotypes, Genes and pathways underlying brain overgrowth and focal cortical malformations, Improving the Diagnosis of Congenital Genitourinary Birth Defects, Multidisciplinary K12 Urologic Research (KURe) Career Development Program, Role of p53 in Kidney Development: Modeling Renal Anomalies of Li-Fraumeni Patients, G7152086784, Identifying phenotypic convergence among autism spectrum disorder (ASD) genes using CRISPR/Cas9 in Xenopus, Novel Role of Nephron Epithelialization in Nuclear Signaling, Gene Expression in Amphibian Development
OpenAlex ID: W2953626879