Results 261 to 270 of about 152,200 (329)

Genetic instability in myelodysplastic syndrome: detection of microsatellite instability and loss of heterozygosity in bone marrow samples with karyotype alterations [PDF]

, 2000
Lienhard Maeck, Detlef Haase, Claudia Schoch, Wolfgang Hiddemann, Frauke Alves   +4 more
openalex   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Loss of Heterozygosity in Fibrocystic Change of the Breast [PDF]

, 2000
Constance Washington, Fabienne Dalbègue, Fleurette Abreo, Jeffery K. Taubenberger, Jack Lichy   +4 more
openalex   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Detecting HLA loss of heterozygosity within a standard diagnostic sequencing workflow for prognostic and therapeutic opportunities. [PDF]

NPJ Precis Oncol
Lozac'hmeur A, Danek T, Yang Q, Rosasco MG, Welch JS, Go WY, Ng EW, Mardiros A, Maloney DG, Garon EB, Kirtane K, Simeone DM, Molina JR, Salahudeen AA, Stein MM, Hecht JR.   +15 more
europepmc   +1 more source

Genetic Instability and Aberrant DNA Methylation in Chronic Hepatitis and Cirrhosis—A Comprehensive Study of Loss of Heterozygosity and Microsatellite Instability at 39 Loci and DNA Hypermethylation on 8 CpG Islands in Microdissected Specimens From Patients With Hepatocellular Carcinoma [PDF]

, 2000
Yutaka Kondo, Yae Kanai, Michiie Sakamoto, Masashi Mizokami, Ryuzo Ueda, Setsuo Hirohashi   +5 more
openalex   +1 more source

Loss of Heterozygosity in Normal Tissue Adjacent to Breast Carcinomas

Science, 1996
G. Deng, Young Lu, G. Zlotnikov, A. Thor, H. Smith   +4 more
semanticscholar   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations. [PDF]

Eur J Hum Genet
Chaussenot A, Ayrignac X, Chatron N, Granchon-Riolzir T, Labauge P, Tournier-Lasserve E, Riant F.   +6 more
europepmc   +1 more source

Ovarian Carcinoma In Situ With Germline BRCA1 Mutation and Loss of Heterozygosity at BRCA1 and TP53 [PDF]

, 2000
Bruce A. Werness
openalex   +1 more source