Results 231 to 240 of about 152,200 (329)

Loss of heterozygosity on chromosome 10, 13q(Rb), 17p, and p53 gene mutations in human brain gliomas [PDF]

open access: bronze, 1995
Seung‐Hoon Lee   +6 more
openalex   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Analysis of biopsies of gastric cancer, intestinal and diffuse, and non-atrophic gastritis: an overview of loss of heterozygosity in Mexican patients. [PDF]

open access: yesPeerJ
Larios-Serrato V   +6 more
europepmc   +1 more source

Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma. [PDF]

open access: yesGenes (Basel), 2023
Soloveva M   +7 more
europepmc   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa   +4 more
wiley   +1 more source

Recurrent Loss of Heterozygosity in Pancreatic Neuroendocrine Tumors. [PDF]

open access: yesAm J Surg Pathol, 2022
Parilla M   +11 more
europepmc   +1 more source

Loss of Heterozygosity (LOH) Profiles—Validated Risk Predictors for Progression to Oral Cancer

open access: yesCancer Prevention Research, 2012
Lewei Zhang   +9 more
semanticscholar   +1 more source

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