Results 201 to 210 of about 152,200 (329)

Molecular genetic analysis of flow-sorted ovarian tumour cells: improved detection of loss of heterozygosity

, 1994
ECA Abeln, Willem E. Corver, Nel J. Kuipers‐Dijkshoorn, Gert Jan Fleuren, Cees J. Cornelisse   +4 more
openalex   +2 more sources

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

, 1998
Laura De Gregorio, Giacomo Manenti, Matteo Incarbone, Silvana Pilotti, Ugo Pastorino, Marco A. Pierotti, Tommaso A. Dragani   +6 more
openalex   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and/or without cleft palate with hypodontia. [PDF]

BMC Oral Health, 2023
Ghazali N, Rahman NA, Kannan TP, Ahmad A, Sulong S.   +4 more
europepmc   +1 more source

ANALYSIS OF LOSS OF HETEROZYGOSITY (LOH) AT THE p53 AND Rb SUPPRESSOR GENES IN URINARY BLADDER CARCINOMA

, 1994
Hiroshi Tamada, Yasushi Suzuki, Gen Tamura   +2 more
openalex   +2 more sources

Microsatellite instability and/or loss of heterozygosity in young gastric cancer patients in Italy [PDF]

, 1999
Yih‐Horng Shiao, Daniela Bovo, Maria Guido, Carlo Capella, Mauro Cassaro, Graziella Busatto, Valentina Russo, Angelo Sidoni, A. Parenti, Massimo Rugge   +9 more
openalex   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Loss of Heterozygosity Spectrum Depends on Ploidy Level in Natural Yeast Populations. [PDF]

Mol Biol Evol, 2022
Dutta A, Dutreux F, Schacherer J.
europepmc   +1 more source

Loss of Heterozygosity in (Lewis×F344)F₁ Rat Urinary Bladder Tumors Induced with N‐Butyl‐N‐(4‐hydroxybutyl)nitrosamine Followed by Dimethylarsinic Acid or Sodium L‐Ascorbate [PDF]

, 1999
Tian-Xin Chen, Yifei Na, Hideki Wanibuchi, Shinji Yamamoto, Chyi‐Chia Richard Lee, Shoji Fukushima   +5 more
openalex   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source