Results 111 to 120 of about 6,628 (168)

Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype. [PDF]

Clin Epigenetics
Begemann M, Lengyel A, Pinti E, Kovács ÁF, Fekete G, Stratmann S, Krause J, Elbracht M, Kraft F, Eggermann T.   +9 more
europepmc   +1 more source

Uniparental disomy in a population of 32,067 clinical exome trios. [PDF]

Genet Med, 2021
Scuffins J, Keller-Ramey J, Dyer L, Douglas G, Torene R, Gainullin V, Juusola J, Meck J, Retterer K.   +8 more
europepmc   +1 more source

Molecular Detection of Uniparental Disomy

, 2003
openaire   +2 more sources

A Rare Case of Hemoglobin Bart's Hydrops Fetalis due to Uniparental Disomy of Chromosome 16. [PDF]

J Med Cases, 2021
Tan YR, Tan HK.
europepmc   +1 more source

Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR). [PDF]

J Assist Reprod Genet
Fabiani M, Margiotti K, Libotte F, Alì C, Zangheri C, Barone MA, Viola A, Cima A, Buonomo G, Cristofano D, Lippa A, Pasquale C, Oliva MM, Mesoraca A, Giorlandino C.   +14 more
europepmc   +1 more source

Mixed Segmental Uniparental Disomy of Chromosome 15q11-q1 Coexists with Homozygous Variant in <i>GNB5</i> Gene in Child with Prader-Willi and Lodder-Merla Syndrome. [PDF]

Genes (Basel)
Marczyk T, Libura M, Wikiera B, Góralska M, Pollak A, Telenga M, Płoski R, Śmigiel R.   +7 more
europepmc   +1 more source

Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR). [PDF]

J Assist Reprod Genet
Fabiani M, Margiotti K, Libotte F, Alì C, Zangheri C, Barone MA, Viola A, Cima A, Buonomo G, Cristofano D, Lippa A, Pasquale C, Montanino Oliva M, Mesoraca A, Giorlandino C.   +14 more
europepmc   +1 more source

Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing. [PDF]

Forensic Sci Res
Ren H, Liu Z, Chen C, Shi Y, Zhang J, Chen Y, Jia L, Liu Y, Yan J.   +8 more
europepmc   +1 more source

Hb H Disease Caused by Uniparental Disomy: First Report of the α^T-Saudiα Mutation in the Chinese Population. [PDF]

Mediterr J Hematol Infect Dis
Wang G, Xie H, Zhang J, Huang P, Liang M, Zhu D, Zhang Q, Zhou Y, Shang X.   +8 more
europepmc   +1 more source

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study. [PDF]

Mol Cytogenet
Xu C, Li M, Gu T, Xie F, Zhang Y, Wang D, Peng J.   +6 more
europepmc   +1 more source