Results 191 to 200 of about 152,200 (329)

Mutations in Homologous Recombination Genes and Loss of Heterozygosity Status in Advanced-Stage Breast Carcinoma. [PDF]

Cancers (Basel), 2023
Bartow BB, Siegal GP, Yalniz C, Elkhanany AM, Huo L, Ding Q, Sahin AA, Guo H, Magi-Galluzzi C, Harada S, Huang X.   +10 more
europepmc   +1 more source

Imprinted survival genes preclude loss of heterozygosity of chromosome 7 in cancer cells

Journal of Pathology, 2016
Arnoud Boot, J. Oosting, N. D. de Miranda, Yinghui Zhang, W. Corver, B. van de Water, H. Morreau, T. van Wezel   +7 more
semanticscholar   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors. [PDF]

Pediatr Blood Cancer, 2023
Groves A, Ward A, Li YY, Lazo de la Vega L, Nag A, Forrest SJ, Gupta HV, Thorner AR, Meyerson M, Kamihara J, Cherniack AD, Janeway KA.   +11 more
europepmc   +1 more source

Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21-22

, 1994
Gordon J. Allan, Sally Cottrell, John Trowsdale, William D. Foulkes   +3 more
openalex   +1 more source

Association of Loss of Heterozygosity at the p53 Locus with Chemoresistance in Osteosarcomas [PDF]

, 1998
Akiteru Goto, Hiroaki Kanda, Yuichi Ishikawa, Seiichi Matsumoto, Noriyoshi Kawaguchi, Rikuo Machinami, Yo Kato, Tomoyuki Kitagawa   +7 more
openalex   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Loss of heterozygosity in the tuberous sclerosis gene associated regions in adenocarcinoma of the lung accompanied by multiple atypical adenomatous hyperplasia [PDF]

, 1998
Kenji Suzuki, Tsutomu Ogura, Tomoyuki Yokose, Kanji Nagai, Kiyoshi Mukai, Tetsuro Kodama, Y Nishiwaki, Hiroyasu Esumi   +7 more
openalex   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Polyploidy as an Adaptation against Loss of Heterozygosity in Cancer. [PDF]

Int J Mol Sci, 2022
Archetti M.
europepmc   +1 more source