Results 171 to 180 of about 173,415,106 (290)

Loss of heterozygosity in ovarian cancer: detection by PCR and microsatellite polymorphism.

, 1994
Loss of chromosome 6q was investigated in endometrial and ovarian carcinomas by a PCR based-microsatellite polymorphism analysis. Results obtained show that this technique is able to detect frequent loss of heterozygosity in the ovarian cancers (10/27 ...
MARTINELLO, Ruby, BIANCHI, Nicoletta, DEL SENNO, Laura, CAVAZZINI, Luigi, MOLLICA, Gioacchino, LOVATO F, AGUIARI, Gianluca, PIVA, Maria Roberta   +7 more
core  

Pattern-based p53 and p16 Immunohistochemistry as a Potential Alternative to Loss of Heterozygosity Testing for Progression Risk of Oral Epithelial Dysplasia. [PDF]

Cancer Prev Res (Phila)
Liu KYP, Ko YCK, Poh CF.
europepmc   +1 more source

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

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Clinical and biological characteristics associated with loss-of-heterozygosity in endometrial cancer. [PDF]

J Gynecol Oncol
Blanc-Durand F, Rouleau E, Pautier P, Ngoi N, Lim YW, Lim SE, Leary A, Tan DS.   +7 more
europepmc   +1 more source

9p21 Loss of Heterozygosity [PDF]

, 2020
openaire   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Megabase-scale loss of heterozygosity provoked by CRISPR-Cas9 DNA double-strand breaks. [PDF]

Mol Cell
Regan SB, Medhi D, Xu Y, White TB, Jiang YZ, Kim JE, Wang SC, Deng Q, Jia S, Baasan D, Connelly JP, Chang TC, Pruett-Miller SM, Jasin M.   +13 more
europepmc   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 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