Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Usha T. Sundaram"'
Autor:
Nurcan Gursoy, Paulie Papavassiliou, Timothy P. York, Gloria Hill, Steven H. Aggen, Colleen Jackson-Cook, Lindon J. Eaves, Brien P. Riley, Lauren Vanner Nicely, Allison McClain, Usha T. Sundaram
Publikováno v:
American journal of medical genetics. Part A. (4)
Little is known about the pathogenesis of the phenotype in individuals with trisomy 21 mosaicism and Down syndrome. The primary goal of this study was to identify factors contributing to the observed phenotypic variation by evaluating 107 individuals
Autor:
Beverly S. Emanuel, Elaine H. Zackai, Usha T. Sundaram, Joann Bodurtha, Donna M. McDonald-McGinn, Deborah A. Driscoll, Dale S. Huff
Publikováno v:
American journal of medical genetics. Part A. (17)
The classic clinical features in the 22q11.2 deletion syndrome are congenital heart defects, hypocalcemia, immunodeficiency, learning, speech, and behavioral difficulties. The phenotype is highly variable and continues to expand. We present two cases
Autor:
Thomas E Uveges, Sergey Leikin, Usha T. Sundaram, Elena Makareeva, Aarthi Ashok, Joan C. Marini, John J. Mulvihill, Wayne A. Cabral, Weizhong Chang, David R. Eyre, Patrick L. Wilson, Armando Flor, Roy Morello, MaryAnn Weis, Brendan Lee, Aileen M. Barnes, Natalia V. Kuznetsova
Publikováno v:
N Engl J Med
Classic osteogenesis imperfecta, an autosomal dominant disorder associated with osteoporosis and bone fragility, is caused by mutations in the genes for type I collagen. A recessive form of the disorder has long been suspected. Since the loss of cart
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd6a6158a5cc385ea749ba87e0850200
https://europepmc.org/articles/PMC7509984/
https://europepmc.org/articles/PMC7509984/