Results 241 to 250 of about 58,343 (309)

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

Epilepsia Open, EarlyView.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi, Ezio Calò, Maria Teresa Di Claudio, Carmela Pia Ferro, Umberto Costantino, Elio Perrone, Raffaela Rita Latino   +6 more
wiley   +1 more source

Fetal Y chromosome abnormalities cause false-low fetal fraction in NIPT: a retrospective analysis of 24,101 pregnant women. [PDF]

Front Genet
Hu S, Zhou L, Xu Y, Wu W, Jiang N, Hao Y, Zhang H, Liu Y, Wu W, Wu B, Liu W.   +10 more
europepmc   +1 more source

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, EarlyView.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +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

Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses. [PDF]

Front Genet
Zheng Z, Wu H, She L, Luo D, Lin L, Guo W, Lan L.   +6 more
europepmc   +1 more source

A case report of X-linked ichthyosis associated with epilepsy due to an <i>Xp22.31</i> deletion fragment. [PDF]

Front Med (Lausanne)
Qi Y, Lin S, Zhou Y, Jiang K.
europepmc   +1 more source

Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities. [PDF]

Front Genet
Kim JC, Kim H, Jang H, Go M, Park JE, Ryu CS, Chin MU, Kim EH, Lee YJ, Shim SH, Cha DH.   +10 more
europepmc   +1 more source

A Case of Pallister-Killian Syndrome in a Newborn. [PDF]

Case Rep Genet
Di Donato G, Cauzzo C, Cicioni P, Topazio T, Chiavaroli V, Volo CPB, Morizio E, Chiarelli F, Valerio SD.   +8 more
europepmc   +1 more source

Reproductive outcomes of mosaic embryo transfers - rethinking the clinical relevance of contemporary mosaicism reporting in preimplantation genetic testing for aneuploidy. [PDF]

Curr Opin Obstet Gynecol
Ottolini CS, Caroselli S, Capalbo A.
europepmc   +1 more source