Results 101 to 110 of about 31,423 (169)

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA. [PDF]

EBioMedicine
Bennett JJ, Laver TW, Männistö JME, Houghton JAL, De Franco E, Kalyon O, Wright S, Johnson AM, De Leon DD, Globa E, Kummer S, Banerjee I, Dastamani A, International Congenital Hyperinsulinism Consortium, Wakeling MN, Johnson MB, Flanagan SE.   +16 more
europepmc   +1 more source

Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes. [PDF]

Mol Cytogenet
Gao T, Wei H, Zheng Y, Xiao Y, Zheng M, Hong S.   +5 more
europepmc   +1 more source

Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature. [PDF]

J Med Case Rep
Wang B, Hua C, Liu Q, Cai D.
europepmc   +1 more source

Case Report: Discordant genetic findings in miscarriage tissue following transfer of euploid embryos. [PDF]

Front Reprod Health
Bai H, Zhang C, Shi J.
europepmc   +1 more source

A qualitative study of parents' experiences with receiving a prenatal diagnosis of confined placental mosaicism - "We had nothing to rely on, you know?" [PDF]

J Genet Couns
Farø J, Thomsen SH, Stenstrup IR, Vogel I, Lou S.   +4 more
europepmc   +1 more source

Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue. [PDF]

Mol Genet Genomic Med
Urban RM, Kanwar N, Holdren MA, Hoenig MF, Rust LM, Wick MJ, Ferber MJ, Niu Z, Gupta S, Shen W.   +9 more
europepmc   +1 more source

Constitutive, Mosaic Expression of TIE2 p.L914F During Mouse Development Causes Venous Malformation. [PDF]

FASEB J
Bischoff LJ, Sherpa C, Schrenk S, Boscolo E.   +3 more
europepmc   +1 more source

Prenatal diagnosis strategies and pregnancy outcomes in the Luohe region of China in the context of increasing maternal age. [PDF]

Sci Rep
Yang S, Li R, Gong Z, Xin S, He Y, Teng S, Gao Y, Fu X.   +7 more
europepmc   +1 more source