Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Stephanie K. Gandomi"'
Autor:
Jennifer L. Roberts, Stephanie K. Gandomi, Melissa Parra, Ira Lu, Chia-Ling Gau, Majed Dasouki, Merlin G. Butler
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a
Externí odkaz:
https://doaj.org/article/ac152e4f8d8d4a5dbdb4bb25e4c94422
Autor:
Jill S. Dolinsky, Randy Hew, Stephanie K. Gandomi, Lily Hoang, Holly LaDuca, Robert Pilarski, Stephanie Noble
Publikováno v:
Molecular Genetics and Metabolism. 132:S54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c79b19b04f961eb180aeb0fc0addea17
https://doi.org/10.1016/s1096-7192(21)00164-5
https://doi.org/10.1016/s1096-7192(21)00164-5
Autor:
R. Temme, K. D. Farwell Gonzalez, Pavel N. Pichurin, J. Mancuso, Stephanie K. Gandomi, Layla Shahmirzadi, Melissa C. Parra, Sha Tang, S. Dugan, Wenqi Zeng
Publikováno v:
Journal of Genetic Counseling. 23:289-298
Intellectual disability is a heterogeneous disorder with a wide phenotypic spectrum. Over 1,700 OMIM genes have been associated with this condition, many of which reside on the X-chromosome. The IQSEC2 gene is located on chromosome Xp11.22 and is kno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9066acbe25a64a339965b59c2530771
https://doi.org/10.1007/s10897-013-9671-6
https://doi.org/10.1007/s10897-013-9671-6
Autor:
Jill S. Dolinsky, Tina Pesaran, Steven Keiles, Chia-Ling Gau, A. J. Stuenkel, Erika Palmaer, Virginia Speare, Holly LaDuca, Kamelia Shoaepour, Stephany Tandy, Divya Shah, Elizabeth C. Chao, Elaine Chen, Stephanie K. Gandomi
Publikováno v:
LaDuca, Holly; Stuenkel, A J; Dolinsky, Jill S; Keiles, Steven; Tandy, Stephany; Pesaran, Tina; et al.(2014). Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genetics in Medicine, 16(11), 830-837. doi: 10.1038/gim.2014.40. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/2kj2d3bq
The aim of this study was to determine the clinical and molecular characteristics of 2,079 patients who underwent hereditary cancer multigene panel testing. Panels included comprehensive analysis of 14–22 cancer susceptibility genes (BRCA1 and BRCA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de2cfdd548c185cd271185a6a2fe55b
http://www.escholarship.org/uc/item/2kj2d3bq
http://www.escholarship.org/uc/item/2kj2d3bq
Autor:
Melissa Parra, Jennifer L. Roberts, Ira Lu, Chia-Ling Gau, Merlin G. Butler, Stephanie K. Gandomi, Majed Dasouki
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Case Reports in Genetics
Case Reports in Genetics
Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230547d8e5a9d41297fe36ae0c05f975
https://doaj.org/article/ac152e4f8d8d4a5dbdb4bb25e4c94422
https://doaj.org/article/ac152e4f8d8d4a5dbdb4bb25e4c94422
Publikováno v:
Clinical genetics. 87(1)
Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. Most cases of clinically diagnosed MFDM remain genetically une
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32a29f8ceec52543c871c42998543bb
https://pubmed.ncbi.nlm.nih.gov/24266672
https://pubmed.ncbi.nlm.nih.gov/24266672
Autor:
Zöe Powis, Charles Dunlop, Sha Tang, Hong Lu, Elizabeth C. Chao, Xiang Li, Hsiao-Mei Lu, David Ruble, Aaron Elliott, Dima El-Khechen, Monica Lao, Cameron Mroske, Kelly D. Farwell, Melissa C. Parra, Stephanie K. Gandomi, Jennifer Wen, Brigette Tippin Davis, Soren Fischbach, Ruth M. Baxter, Ira Lu, David J. Salvador, Layla Shahmirzadi, Shela Lee, Wenqi Zeng
Publikováno v:
Europe PubMed Central
Diagnostic exome sequencing was immediately successful in diagnosing patients in whom traditional technologies were uninformative. Herein, we provide the results from the first 500 probands referred to a clinical laboratory for diagnostic exome seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8d430205e23f2f7db3723703b76cf4
http://europepmc.org/abstract/med/25356970
http://europepmc.org/abstract/med/25356970