Results 111 to 120 of about 17,833 (262)

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

Placental mosaicism in prenatal diagnosis. [PDF]

Med Genet
Döttelmayer P, Fauth C.
europepmc   +1 more source

ABERRANT Y CHROMOSOMES AND SEX EXPRESSION IN MELANDRIUM ALBUM [PDF]

Hereditas, 2010
openaire   +2 more sources

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

Monitoring Cytogenetic Effects in Peripheral Blood Lymphocytes of Thyroid Cancer Patients Receiving Radioiodine Treatment. [PDF]

Int J Mol Sci
Khvostunov IK, Nasonova E, Lobachevsky P, Krylov V, Shurinov A, Rodichev A, Korovchuk O, Geraskina A, Shipilova E, Shegai P, Kaprin A.   +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

Leveraging a spectrum of cytogenomics methods for profiling complex karyotypes in chronic lymphocytic leukemia. [PDF]

Hum Genomics
Cernovska K, Penazova S, Stranska K, Porc JP, Skalakova P, Ondrouskova E, Rausch T, Svaton J, Tausova K, Kazdova N, Pal K, Hynst J, Benes V, Jarosova M, Pospisilova S, Kotaskova J, Plevova K.   +16 more
europepmc   +1 more source

From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss. [PDF]

Front Genet
Skrypnyk C, AlHafnawi HH, AlHarmi R, Amin E, Albuarki H.   +4 more
europepmc   +1 more source

Pervasive chromosomal instability drives the karyotypic evolution of hypodiploid tumours. [PDF]

Genome Med
Loughran E, McLysaght A, Ní Leathlobhair M.   +2 more
europepmc   +1 more source

Sizing and concentration analysis of cfDNA using Biabooster technology: Results from a prospective plasma‐based collection of 77 patients with locally advanced unresectable esophageal cancer

International Journal of Cancer, EarlyView.
What's New? This study introduces a novel approach for detecting locally advanced esophageal carcinoma using cell‐free DNA (cfDNA) analysis through a highly sensitive fragmentome assay. Unlike traditional sequencing‐based methods that are limited by the absence of specific mutations in esophageal tumors, our method offers an alternative by quantifying ...
Anouchka Modesto, Sophie Gibert, Caroline Delmas, David Tougeron, Amaury Paumier, Alexandre Taillez, Samuel Le Sourd, Delphine Argo Leignel, Philippe Ronchin, Ariane Darut Jouve, Véronique Vendrely, Olivier Riou, Jérôme Martin‐Babau, Thomas Leroy, Laurent Quéro, Naïma Hanoun, Pierre Cordelier, Veronica Pezzella, Jean Pierre Delord, Rosine Guimbaud, Elizabeth Moyal, Catherine Seva   +21 more
wiley   +1 more source