Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23722
Abstract: Syndromic sensorineural hearing loss is multigenic and associated with malformations of the ear and other organ systems. Herein we describe a child admitted to the NIH Undiagnosed Diseases Program with global developmental delay, sensorineural hearing… read more here.
Keywords: hearing loss; loss; deletion slc12a2; homozygous deletion ... See more keywords
Homozygous deletion of CDKN2A in malignant mesothelioma: Diagnostic utility, patient characteristics and survival in a UK mesothelioma centre.
Sign Up to like & getrecommendations! Published in 2020 at "Lung cancer"
DOI: 10.1016/j.lungcan.2020.10.020
Abstract: BACKGROUND Detection of homozygous deletion of the p16 gene (CDKN2A) by fluorescence in situ hybridization (FISH) has been investigated as an ancillary technique in the diagnosis of malignant mesothelioma. METHOD This retrospective study reviewed the… read more here.
Keywords: mesothelioma; mesothelioma centre; p16 fish; homozygous deletion ... See more keywords
Translational Significance of CDKN2A/B Homozygous Deletion in IDH-Mutant Astrocytoma.
Sign Up to like & getrecommendations! Published in 2022 at "Neuro-oncology"
DOI: 10.1093/neuonc/noac205
Abstract: Isocitrate dehydrogenase (IDH) 1 or 2 mutations confer a favorable prognosis compared to IDH-wildtype in astrocytoma, frequently denoting a lower grade malignancy. However, recent molecular profiling has identified specific aggressive tumor subgroups with clear clinical… read more here.
Keywords: idh mutant; cdkn2a homozygous; mutant astrocytoma; homozygous deletion ... See more keywords
Frequent homozygous deletion of Cdkn2a/2b in tremolite‐induced malignant mesothelioma in rats
Sign Up to like & getrecommendations! Published in 2020 at "Cancer Science"
DOI: 10.1111/cas.14358
Abstract: The onset of malignant mesothelioma (MM) is linked to exposure to asbestos fibers. Asbestos fibers are classified as serpentine (chrysotile) or amphibole, which includes the crocidolite, amosite, anthophyllite, tremolite, and actinolite types. Although few studies… read more here.
Keywords: tremolite; cdkn2a; microscopy; homozygous deletion ... See more keywords
Atypical ALK‐positive Spitz tumors with 9p21 homozygous deletion: Report of two cases and review of the literature
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Cutaneous Pathology"
DOI: 10.1111/cup.13057
Abstract: ALK rearrangements occur in up to 10% of spitzoid melanocytic neoplasms. No reported cases have shown homozygous deletion of 9p21 (CDKN2A) or gains of 6p25 (RREB1) or 11q13 (CCND1), which have been associated with aggressive… read more here.
Keywords: positive spitz; alk positive; deletion; nodule ... See more keywords
Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical pediatrics"
DOI: 10.1177/00099228231162416
Abstract: Homozygous deletion of NPHP1 can lead to isolated nephronophthisis (NPHP) and syndromic disorders. However, the phenotype of scalp tumor and hydroureteronephrosis in NPHP patients with homozygous deletion of NPHP1 has not been reported. Clinical data,… read more here.
Keywords: scalp tumor; tumor hydroureteronephrosis; deletion; homozygous deletion ... See more keywords
A website to identify shared genes in Saccharomyces cerevisiae homozygous deletion library screens
Sign Up to like & getrecommendations! Published in 2018 at "BMC Bioinformatics"
DOI: 10.1186/s12859-018-2212-4
Abstract: BackgroundThe homozygous yeast deletion library includes approximately 4800 diploid strains each containing one deleted non-essential gene. Hundreds of publications have arisen through experimentation using this genome-wide biological resource. As part of this work over 677… read more here.
Keywords: saccharomyces cerevisiae; cerevisiae homozygous; deletion; homozygous deletion ... See more keywords
Association of CDKN2A/2B deletion with homozygous deletion of TCR- γ gene in T-ALL.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2017.35.15_suppl.e18516
Abstract: e18516Background: T-lineage acute lymphoblastic leukemia (T-ALL) is a genetically heterogeneous disease that arises in a multistep fashion through acquisition of several genetic aberrations. Absenc... read more here.
Keywords: cdkn2a deletion; deletion tcr; deletion; homozygous deletion ... See more keywords
Qualitative and Quantitative Magnetic Resonance Imaging Phenotypes May Predict CDKN2A/B Homozygous Deletion Status in Isocitrate Dehydrogenase-Mutant Astrocytomas: A Multicenter Study
Sign Up to like & getrecommendations! Published in 2023 at "Korean Journal of Radiology"
DOI: 10.3348/kjr.2022.0732
Abstract: Objective Cyclin-dependent kinase inhibitor (CDKN)2A/B homozygous deletion is a key molecular marker of isocitrate dehydrogenase (IDH)-mutant astrocytomas in the 2021 World Health Organization. We aimed to investigate whether qualitative and quantitative MRI parameters can predict… read more here.
Keywords: deletion; isocitrate dehydrogenase; homozygous deletion; mutant astrocytomas ... See more keywords
Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.931833
Abstract: Uniparental disomy (UPD) is a rare genetic event caused by errors during gametogenesis and fertilization leading to two copies of a chromosome or chromosomal region inherited from one parent. MixUPD is one type of UPD… read more here.
Keywords: uniparental disomy; ichthyosis; homozygous deletion; chromosome ... See more keywords