Results 251 to 260 of about 152,200 (329)

Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma

Journal of Medical Genetics, 2012
N. Sabbaghian, N. Hamel, A. Srivastava, S. Albrecht, J. Priest, W. Foulkes   +5 more
semanticscholar   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

KRAS Loss of Heterozygosity Promotes MAPK-Dependent Pancreatic Ductal Adenocarcinoma Initiation and Induces Therapeutic Sensitivity to MEK Inhibition. [PDF]

Cancer Res
Fey SK, Najumudeen AK, Watt DM, Millett LM, Ford CA, Gilroy K, Simpson RJ, McLay K, Upstill-Goddard R, Chang D, Clark W, Nixon C, Birch JL, Barry ST, Morton JP, Campbell AD, Sansom OJ.   +16 more
europepmc   +1 more source

MAINTENANCE AND LOSS OF HETEROZYGOSITY IN A THELYTOKOUS LINEAGE OF HONEY BEES (APIS MELLIFERA CAPENSIS)

Evolution; international journal of organic evolution, 2012
F. Goudie, M. Allsopp, M. Beekman, P. Oxley, Ju-Rak Lim, B. Oldroyd   +5 more
semanticscholar   +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

Loss of heterozygosity for chromosomes 16q in Wilms tumors predicts outcomes: A meta-analysis. [PDF]

World J Gastrointest Oncol
Song YH, Li WL, Yang Z, Gao Y, Feng ZP.
europepmc   +1 more source

Genome-scale patterns in the loss of heterozygosity incidence in Saccharomyces cerevisiae. [PDF]

Genetics, 2022
Tutaj H, Pirog A, Tomala K, Korona R.
europepmc   +1 more source

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients [PDF]

, 2000
Célia Bádenas, Roser Torrá, Laureano Pérez-Oller, Judith Mallolas, R Talbot-Wright, Vicenç Torregrosa, Alejandro Darnell   +6 more
openalex   +1 more source

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde, Maria E. Hernandez Gonzalez, Anthony R. Miller, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +9 more
wiley   +1 more source

Loss of Heterozygosity and Mutations in the RAS-ERK Pathway Genes in Tumor Cells of Various Loci in Multiple Myeloma. [PDF]

Int J Mol Sci
Soloveva M, Solovev M, Risinskaya N, Nikulina E, Yakutik I, Biderman B, Obukhova T, Chabaeva Y, Kulikov S, Sudarikov A, Mendeleeva L.   +10 more
europepmc   +1 more source