Results 131 to 140 of about 36,631 (311)

Two cases of sex chromosome aberration XXXXY [PDF]

Hereditas, 2009
Sindey Aronsson, Fredrik Lindgren, Leif Svanström   +2 more
openaire   +1 more source

Perampanel as add‐on in high‐grade glioma–related epilepsy: Seizure control and QoL in a prospective, multicenter, real‐world 6‐month follow‐up study

Epilepsia Open, EarlyView.
Abstract Objective High‐grade astrocytomas, including glioblastomas, are aggressive brain tumors with poor prognosis and a 5‐year survival below 7%. Seizures affect up to 75% of glioma patients, especially in low‐grade tumors but also in high‐grade cases.
Matteo Impellizzeri, Paolo Paone, Giada Pauletto, Annacarmen Nilo, Simone Beretta, Andrea Salmaggi, Stefano Consoli, Stefano Quadri   +7 more
wiley   +1 more source

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

A Rejection Principle for Sequential Tests of Multiple Hypotheses Controlling Familywise Error Rates [PDF]

, 2015
We present a unifying approach to multiple testing procedures for sequential (or streaming) data by giving sufficient conditions for a sequential multiple testing procedure to control the familywise error rate (FWER), extending to the sequential domain ...
Bartroff, Jay, Song, Jinlin
core   +1 more source

Study of Genetic Aberrations of Sex Chromosome for Turner Syndrome in Peripheral

Iraqi Journal of Cancer and Medical Genetics, 2011
In this study we do achromosomal analysis to 26 iraqi patients with confirmed Turner Syndrom , after subjected to medical examination by their doctors. Turner Syndrom is achromosomal abnormalities in X chromosome .the age of pateins are among (5-25) years old and divided into tow groups ,the first one is patients with age below 12 years old and the ...
openaire   +1 more source

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

A survey on the possibility of utilizing γH2AX as a biodosimeter in radiation workers [PDF]

, 2015
Introduction DNA damage is among the main consequences of radiation. Of many different classes of DNA damage, double-strand breaks are the most deleterious.
Asadi, J., Khoshnazar, A.K., Mir, M., Yazdani, Y.   +3 more
core  

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

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

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source