Results 211 to 220 of about 152,200 (329)

DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved. [PDF]

Int J Mol Sci, 2023
Risinskaya N, Gladysheva M, Abdulpatakhov A, Chabaeva Y, Surimova V, Aleshina O, Yushkova A, Dubova O, Kapranov N, Galtseva I, Kulikov S, Obukhova T, Sudarikov A, Parovichnikova E.   +13 more
europepmc   +1 more source

Quantification of BRCA1 protein in sporadic breast carcinoma with or without loss of heterozygosity of the BRCA1 gene [PDF]

, 1999
Pascale Rio, Jean‐Claude Maurizis, M. Peffault De Latour, Yves‐Jean Bignon, Dominique J. Bernard‐Gallon   +4 more
openalex   +1 more source

Chromosome 3p loss of heterozygosity is associated with a unique metabolic network in clear cell renal carcinoma

Proceedings of the National Academy of Sciences of the United States of America, 2014
F. Gatto, I. Nookaew, J. Nielsen
semanticscholar   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Resolving spatial subclonal genomic heterogeneity of loss of heterozygosity and extrachromosomal DNA in gliomas. [PDF]

Nat Commun
Webb MG, Chow F, McCullough CG, Zhang B, Lee JJY, Bassiouni R, Garrett NE, Hurth K, Carpten JD, Zada G, Craig DW.   +10 more
europepmc   +1 more source

Distinct regions of frequent loss of heterozygosity of chromosome 5p and 5q in human esophageal cancer [PDF]

, 1998
Robert Peralta, Alan G. Casson, Rui‐nan Wang, Shaf Keshavjee, Mark Redston, Bharati Bapat   +5 more
openalex   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

The dynamics of loss of heterozygosity events in genomes. [PDF]

EMBO Rep
Dutta A, Schacherer J.
europepmc   +1 more source

Genome plasticity driven by aneuploidy and loss of heterozygosity in Trypanosoma cruzi. [PDF]

Microb Genom, 2022
Cruz-Saavedra L, Schwabl P, Vallejo GA, Carranza JC, Muñoz M, Patino LH, Paniz-Mondolfi A, Llewellyn MS, Ramírez JD.   +8 more
europepmc   +1 more source

Loss of heterozygosity in tuberous sclerosis hamartomas. [PDF]

, 1996
Tiina Sepp, John R.W. Yates, Andrew Green   +2 more
openalex   +1 more source