Results 211 to 220 of about 138,753 (343)

Genomic Insights Into Red Squirrels in Scotland Reveal Loss of Heterozygosity Associated With Extreme Founder Effects. [PDF]

Evol Appl
Marr MM, Humble E, Lurz PWW, Wilson LA, Milne E, Beckmann KM, Schoenebeck J, Fung UY, Kitchener AC, Kortland K, Edwards C, Ogden R.   +11 more
europepmc   +1 more source

Loss Of Heterozygosity (LOH) [PDF]

, 2019
openaire   +1 more source

Chromosome 10 Loss of Heterozygosity [PDF]

, 2020
openaire   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Loss of Heterozygosity (LOH) Affecting HLA Genes in Breast Cancer: Clinical Relevance and Therapeutic Opportunities. [PDF]

Genes (Basel)
Garrido MA, Navarro-Ocón A, Ronco-Díaz V, Olea N, Aptsiauri N.   +4 more
europepmc   +1 more source

Recurrent Loss of Heterozygosity in Pancreatic Neuroendocrine Tumors. [PDF]

Am J Surg Pathol, 2022
Parilla M, Chapel D, Hechtman JF, Wanjari P, El Jabbour T, Sharma A, Ritterhouse L, Segal J, Vanderbilt C, Klimstra DS, Setia N, Tang L.   +11 more
europepmc   +1 more source

Chromosome 3p loss of heterozygosity and reduced expression of H3K36me3 correlate with longer relapse-free survival in sacral conventional chordoma

, 2020
Guo Zhu, Daniel C. Ramirez, Wen Chen, Chao Lü, Lu Wang, Denise Frosina, Achim A. Jungbluth, Peter Ntiamoah, Khédoudja Nafa, Patrick J. Boland, Meera Hameed   +10 more
openalex   +2 more sources

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

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

Loss-of-Heterozygosity as a Biomarker of Genomic Instability in Endometrial Cancer

Félix Blanc‐Durand, Etienne Rouleau, Damien Vasseur, Patricia Pautier, Judith Michels, Kaïssa Ouali, Silvana Talisa Wijaya, Manavi Sachdeva, Diana Lim, Natalie Y.L. Ngoi, Yi Wan Lim, Siew Eng Lim, Alexandra Léary, David S.P. Tan   +13 more
openalex   +1 more source