Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Mahin Golabi"'
Autor:
Jun Zhu, Jun Qiu, Gregg Magrane, Malak Abedalthagafi, Andrea Zanko, Mahin Golabi, Farid F. Chehab
Publikováno v:
PLoS ONE, Vol 8, Iss 9 (2013)
Externí odkaz:
https://doaj.org/article/6a5ac2d524314ca3ac2d2df5cb226e70
Autor:
Jun Zhu, Jun Qiu, Gregg Magrane, Malak Abedalthagafi, Andrea Zanko, Mahin Golabi, Farid F Chehab
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e52353 (2012)
We characterized the t(7;22)(q32;q11.2) chromosomal translocation in an obese female with coarse features, short stature, developmental delay and a hypoplastic fifth digit. While these clinical features suggest Coffin-Siris Syndrome (CSS), we exclude
Externí odkaz:
https://doaj.org/article/71689da76ed04d86859fa0719c6f7ec9
Publikováno v:
American Journal of Medical Genetics Part A. 164:204-207
LUMBAR syndrome (lower body congenital infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) is a rare association betwee
Publikováno v:
American Journal of Medical Genetics Part A. :693-697
Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome is a disorder of male (46,XY) gonadal dysgenesis, thought to be either an X-linked recessive or an autosomal recessive disorder. The propositus in our report presented with multiple congenital
Publikováno v:
American Journal of Medical Genetics Part A. :2821-2831
DOOR syndrome (deafness, onychodystrophy, osteodystrophy, and mental retardation) is a rarely described disorder with less than 35 reports in the literature. The hallmarks of the syndrome, represented in the DOOR acronym, include sensorineural hearin
Autor:
Seymour Packman, Kara Weisiger, Dana Kostiner, Elliott H. Sherr, Jill Goldman, Anne Slavotinek, H. Eugene Hoyme, William R. Wilcox, Mahin Golabi
Publikováno v:
American Journal of Medical Genetics Part A. :197-201
Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonad
Publikováno v:
Clinical Genetics. 60:366-370
Mosaicism for tandem duplications is rare. Most patients reported had abnormal phenotypes of varying severity, depending on the chromosomal imbalance involved and the level of mosaicism. Post-zygotic unequal sister-chromatid exchange has been propose
Autor:
Lynda C. Schneider, Melissa E. Elder, Seth J. Orlow, Jonathan Zonana, Diane W. Wara, Celia Moss, Betsy Ferguson, Mahin Golabi, Stuart K. Shapira, Peter Farndon, Stephanie A. Emmal
Publikováno v:
The American Journal of Human Genetics. 67(6):1555-1562
Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant and recessive forms exist. We have studied males from four
Autor:
Jerome Yankowitz, Arthur S. Aylsworth, Alison E. Winder, Robin Imagire, Amanda Ewart-Toland, Victoria A. Cox, Mahin Golabi
Publikováno v:
American Journal of Medical Genetics. 90:303-309
Maternal diabetes is known to have teratogenic effects. Malformations including neural tube defects, caudal dysgenesis, vertebral defects, congenital heart defects, femoral hypoplasia, and renal anomalies are described in infants of diabetic mothers.
Autor:
Stephen I. Goodman, Kara Weisiger, Carol Ohnstad, Michael J. Bennett, Gregory M. Enns, Seymour Packman, Mahin Golabi, Charles L. Hoppel
Publikováno v:
The Journal of Pediatrics. 136:251-254
The mitochondrial respiratory chain and the fatty acid oxidation cycle are theoretically interdependent on each other for normal function. We describe a patient with complex I deficiency who had clinical and biochemical features of long-chain 3-hydro