Loss of heterozygosity in the tuberous sclerosis gene associated regions in adenocarcinoma of the lung accompanied by multiple atypical adenomatous hyperplasia [PDF]
Kenji Suzuki+7 more
openalex +1 more source
Evolution of loss of heterozygosity patterns in hybrid genomes of Candida yeast pathogens. [PDF]
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]
Cinzia Lavarino+8 more
openalex +1 more source
Imprinted survival genes preclude loss of heterozygosity of chromosome 7 in cancer cells
Arnoud Boot+7 more
semanticscholar +1 more source
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]
Bartow BB+10 more
europepmc +1 more source
Prognostic value of loss of heterozygosity and KRAS2 mutations in lung adenocarcinoma [PDF]
Laura De Gregorio+6 more
openalex +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
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]
Τοyoaki Uchida+7 more
openalex +1 more source