Results 161 to 170 of about 91,338 (344)

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

open access: bronze, 1998
Kenji Suzuki   +7 more
openalex   +1 more source

Evolution of loss of heterozygosity patterns in hybrid genomes of Candida yeast pathogens. [PDF]

open access: yesBMC Biol, 2023
Mixão V   +7 more
europepmc   +1 more source

Detection of TP53 mutation, loss of heterozygosity and DNA content in fine-needle aspirates of breast carcinoma [PDF]

open access: green, 1998
Cinzia Lavarino   +8 more
openalex   +1 more source

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

open access: yesJournal of Pathology, 2016
Arnoud Boot   +7 more
semanticscholar   +1 more source

TBX3‐ Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

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

open access: yesCancers (Basel), 2023
Bartow BB   +10 more
europepmc   +1 more source

Prognostic value of loss of heterozygosity and KRAS2 mutations in lung adenocarcinoma [PDF]

open access: bronze, 1998
Laura De Gregorio   +6 more
openalex   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil   +8 more
wiley   +1 more source

BRCA1 gene mutation and loss of heterozygosity on chromosome 17q21 in primary prostate cancer [PDF]

open access: bronze, 1999
Τοyoaki Uchida   +7 more
openalex   +1 more source

Home - About - Disclaimer - Privacy