Results 221 to 230 of about 137,449 (345)

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

Microsatellite instability and loss of heterozygosity in chromosomes 9 and 16 in human breast epithelial cells transformed by chemical carcinogens [PDF]

, 1997
Yifeng Wu
openalex   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Corrigendum: 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

Decreased copy‐neutral loss of heterozygosity in African American colorectal cancers

, 2020
Gaius J. Augustus, Rosa M. Xicola, Xavier Llor, Nathan A. Ellis   +3 more
openalex   +2 more sources

Chromosome 22 Loss of Heterozygosity [PDF]

, 2020
openaire   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +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

Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients

, 2020
Rebeca Silveira Grasel, Paula Silva Felicio, André Escremim de Paula, Natália Campacci, Felipe Antônio de Oliveira Garcia, Edilene Santos de Andrade, Adriane Feijó Evangelista, Gabriela Carvalho Fernandes, Cristina da Silva Sábato, Pedro De Marchi, Cristiano de Pádua Souza, Cláudia Alessandra Andrade de Paula, Giovana Tardin Torrezan, Henrique de Campos Reis Galvão, Dirce Maria Carraro, Edenir Inêz Palmero   +15 more
openalex   +1 more source

Loss of heterozygosity at the dilute–short ear (Myo5a–Bmp5) region of the mouse: mitotic recombination or double non-disjunction? [PDF]

, 1998
Jack Favor, A. Neuhäuser-Klaus
openalex   +1 more source