Results 231 to 240 of about 125,822 (294)

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

Cardiovascular Diseases in Public Health: Chromosomal Abnormalities in Congenital Heart Disease Causing Sudden Cardiac Death in Children. [PDF]

Medicina (Kaunas)
Salzillo C, La Verde M, Imparato A, Molitierno R, Lucà S, Pagliuca F, Marzullo A.   +6 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

Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies. [PDF]

Front Genet
Liu JP, Wang SB, Luo L, Guo YM.
europepmc   +1 more source

Impact of donor mare and stallion identity on the likelihood of pregnancy after transfer of in vitro produced embryos

Equine Veterinary Journal, EarlyView.
Abstract Background The success of in vitro embryo production (IVEP) is influenced by donor mare and stallion. Objectives To determine whether donor mare and stallion influence the pregnancy rate after transfer of in vitro produced (IVP) blastocysts and to identify factors influencing the likelihood of obtaining one or more pregnancies from a single ...
M. Papas, T. A. E. Stout, J. C. M. Vernooij, B. Leemans, L. Arnold, M. M. Beitsma, L. I. Wijnands, M. de Ruijter‐Villani, S. Colleoni, G. Lazzari, C. Galli, A. Claes   +11 more
wiley   +1 more source

Assessment of sperm chromosomal abnormalities using fluorescence in situ hybridization (FISH): implications for reproductive potential. [PDF]

J Assist Reprod Genet
Luongo FP, Annunzi E, Girolamo F, Belmonte G, Ponchia R, Piomboni P, Luddi A.   +6 more
europepmc   +1 more source

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

The correlation between blastocyst morphological parameters and chromosomal euploidy, aneuploidy and other chromosomal abnormalities following pre-implantation genetic testing-a single center retrospective study. [PDF]

Arch Gynecol Obstet
Hochberg A, Amoura L, Zhang XY, Zhang L, Dahan MH, Ao A.   +5 more
europepmc   +1 more source

Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities: A systematic review and meta-analysis of diagnostic test accuracy. [PDF]

PLoS One
Konya M, Czimbalmos A, Loczi L, Koi T, Turan C, Nagy R, Acs N, Hegyi P, Varbiro S, Gal A.   +9 more
europepmc   +1 more source

Prediction of chromosomal abnormalities in the screening of the first trimester of pregnancy using machine learning methods: a study protocol. [PDF]

Reprod Health
Shaban M, Mollazadeh S, Eslami S, Tara F, Sharif S, Arghavanian FE.   +5 more
europepmc   +1 more source