Results 101 to 110 of about 6,628 (168)

Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis. [PDF]

Doc Ophthalmol
Elbagoury NM, Essawi ML, Fathy HM, Eid OM, Nabih M, Mohamed AM, Tawfik CA.   +6 more
europepmc   +1 more source

Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15. [PDF]

F S Rep, 2022
Schlade-Bartusiak K, Strong E, Zhu O, Mackie J, Salema D, Volodarsky M, Roberts J, Steinraths M.   +7 more
europepmc   +1 more source

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia. [PDF]

Neoplasia
Lai A, Liu W, Mei Y, Zhang Q, Zhang J, Tang K, Rao Q, Gu R, Feng S, Wang Y, Wang M, Wei H, Mi Y, Qiu S, Wang J.   +14 more
europepmc   +1 more source

Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader-Willi Syndrome. [PDF]

Diagnostics (Basel), 2023
Hong DK, Park JE, Kang KM, Shim SH, Shim SH, Han YJ, Cho HY, Cha DH.   +7 more
europepmc   +1 more source

A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15. [PDF]

Hum Cell
Cazaux Mateus F, Camões Dos Santos J, Arez M, Bekman EP, da Rocha ST.   +4 more
europepmc   +1 more source

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. [PDF]

Mol Genet Genomic Med, 2021
Wang L, Liu P, Bi W, Sim T, Wang X, Walkiewicz M, Leduc MS, Meng L, Xia F, Eng CM, Yang Y, Yuan B, Dai H.   +12 more
europepmc   +1 more source

Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome. [PDF]

Cancer Discov
Castillo SD, Perosanz X, Ressler AK, Ivars M, Rodríguez J, Rovira C, Nola EM, Llena J, Grego-Bessa J, Roldán M, Arnau R, Martínez-Romero A, Barber I, Bejarano M, Vicente A, Celis V, Salvador H, Salvador H, Mora J, Marchuk DA, Baselga E, Graupera M.   +21 more
europepmc   +1 more source

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy. [PDF]

Front Genet, 2022
Zhang L, Hu Y, Lu J, Zhao P, Zhang X, Tan L, Li J, Xiao C, Zeng L, He X.   +9 more
europepmc   +1 more source

Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome. [PDF]

Mol Cytogenet
Nannan Y, Yang Y, Yan W, Hao W.
europepmc   +1 more source

Uniparental disomy in ES cells [PDF]

Genome Biology, 2001
openaire   +1 more source