Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Inder K. Gadi"'
Publikováno v:
Cancer Genetics. :S17
Autor:
James Tepperberg, Alexandra Arreola, Stuart Schwartz, Inder K. Gadi, Peter Papenhausen, Kenneth Heym
Publikováno v:
Cancer Genetics. :S2
Autor:
Allyn McConkie, Xiu Xu, Qiong Xu, Ping Wang, Inder K. Gadi, Wei-ping Wang, Catherine Rehder, Yong-hui Jiang, Heather G. LaBreche, Jennifer L. Goldstein
Publikováno v:
Pediatric research
Background The pathogenicity of copy number variations (CNV) in neurodevelopmental disorders is well supported by research literature. However, few studies have evaluated the utility and counseling challenges of CNV analysis in the clinic. Methods We
Publikováno v:
American Journal of Medical Genetics Part A. 167:2463-2469
We report on a 6-month-old girl with two apparent cell lines; one with trisomy 21, and the other with paternal genome-wide uniparental isodisomy (GWUPiD), identified using single nucleotide polymorphism (SNP) based microarray and microsatellite analy
Autor:
Debra J. Boles, Benjamin M. Helm, Andrew M. Reittinger, Samantha A. Schrier Vergano, Inder K. Gadi
Publikováno v:
American journal of medical genetics. Part A. 173(9)
Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicis
Autor:
Peter Papenhausen, Inder K. Gadi, Mary K. Rudd, Karen Phillips, Stuart Schwartz, Justin Schleede, James Tepperberg, Romela Pasion, Rachel D. Burnside, Huong Cabral
Publikováno v:
American Journal of Obstetrics and Gynecology. 218:S58-S59
Autor:
Hiba Risheg, Romela Pasion, Peter Papenhausen, Elisabeth A. Keitges, John Pappas, Kenneth J. Friedman, Rachel D. Burnside, Inder K. Gadi, Vikram L. Jaswaney, James Tepperberg, Stuart Schwartz
Publikováno v:
American Journal of Medical Genetics Part A. 155:757-768
Single nucleotide polymorphism (SNP) based chromosome microarrays provide both a high-density whole genome analysis of copy number and genotype. In the past 21 months we have analyzed over 13,000 samples primarily referred for developmental delay usi
Autor:
Brian Williford, Vik Jaswaney, James Tepperberg, Laura Kline, Jenny Shafer, Peter Papenhausen, Inder K. Gadi, Sharon Molinari, Karen Phillips, Rachel D. Burnside, Huong Cabral, Stuart Schwartz, Andrea Penton, Romela Pasion, Margriet Johansen
Publikováno v:
Cancer Genetics. 209:233-234
Publikováno v:
Blood. 128:5119-5119
Interstitial deletion of the long arm of chromosome 20 is a common genomic imbalance associated with myeloid hematologic disorders. Originally identified by conventional cytogenetics and fluorescent in situ hybridization, it has been hypothesized tha
Autor:
Val V. Zvereff, Amy Pizzino, Meaghan Martin, Jessica E. King, Amy Dexter, Adeline Vanderver, Inder K. Gadi, Miriam Bloom, Johanna L. Schmidt
Publikováno v:
Journal of genetic counseling. 23(5)
Uniparental disomy is a genetic cause of disease that may result in the inheritance of an autosomal recessive condition. A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing