Results 91 to 100 of about 6,628 (168)

UPDhmm: detecting uniparental disomy from NGS trio data. [PDF]

Bioinformatics
Sevilla-Porras M, Ruiz-Arenas C, Pérez-Jurado LA.   +2 more
europepmc   +1 more source

A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant. [PDF]

Clin Pediatr Endocrinol, 2023
Nishimura-Kinoshita N, Ohata Y, Sawai H, Izawa M, Takeyari S, Kubota T, Omae Y, Ozono K, Tokunaga K, Hamajima T.   +9 more
europepmc   +1 more source

Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach. [PDF]

Hum Reprod Open
Li Y, Chau MHK, Zhang YX, Gui BH, Lui WT, Lam CMV, Cao Y, Chung TCY, Wu CC, Ip PNP, Chan DYL, Kwok YKY, Chung JPW, Choy KW.   +13 more
europepmc   +1 more source

Common and distinct patterns of acquired uniparental disomy and homozygous deletions between lung squamous cell carcinomas and lung adenocarcinoma. [PDF]

Neoplasia, 2023
Tuna M, Mills GB, Amos CI.
europepmc   +1 more source

Achalasia and mental retardation in a child with uniparental disomy of <i>GMPPA</i> treated with POEM. [PDF]

Gastroenterol Rep (Oxf)
Qiu X, Ye Z, Huang Y.
europepmc   +1 more source

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3. [PDF]

J Forensic Sci
Fontanil H, Pedroza Matute S, Haizel T, Iyavoo S.   +3 more
europepmc   +1 more source

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing? [PDF]

Eur J Hum Genet, 2023
Maas SM, Krzyzewska IM, Lombardi MPR, Mannens MMA, Vos N, Bliek J.   +5 more
europepmc   +1 more source

Whole-genome paternal uniparental disomy identified through prenatal single-nucleotide polymorphism-based cell-free DNA screening. [PDF]

Ultrasound Obstet Gynecol
Benn P, Hashimoto K, Souter V, Dhamankar R, Xu W, Kijacic D.   +5 more
europepmc   +1 more source

Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes. [PDF]

Clin Epigenetics, 2023
Hara-Isono K, Matsubara K, Nakamura A, Sano S, Inoue T, Kawashima S, Fuke T, Yamazawa K, Fukami M, Ogata T, Kagami M.   +10 more
europepmc   +1 more source

Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study. [PDF]

J Transl Med
Liu N, Huang S, Zhang B, Zhou Y, Jin C, Sun P, Yang L, Wang X, Hu Y, Jin H, Wang B, Chen S, Yang X, Li J, Sun X, Liu W, Wei Y, Mu K, Liu L, Feng Y, Shi P, Kong X.   +21 more
europepmc   +1 more source