Results 171 to 180 of about 163,521 (283)

Chromosomal instability as a predictive biomarker for recurrence risk following transurethral resection of NMIBC. [PDF]

Front Oncol
Ding Q, Zhu H, Fan B, Wang L, Jin X, Cao C, Shi Y, Fan Z, Tu W, Li F.   +9 more
europepmc   +1 more source

Real‐world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2‐q13.1 duplication and deletion syndromes: A multicenter study

Epilepsia Open, EarlyView.
Abstract This multicenter retrospective study evaluated the effectiveness and safety of highly purified cannabidiol (CBD) in 22 patients with 15q11.2‐q13.1 duplication or deletion syndromes (15q‐DDS), including 12 with 15q duplication syndrome (dup15q) and 10 with Angelman syndrome (AS). Median (interquartile range [IQR]) age at CBD initiation was 14.5
Emanuele Cerulli Irelli, Adolfo Mazzeo, Marco Perulli, Georgia Ramantani, Domenica Battaglia, Irene Bagnasco, Erica Cognolato, Pasquale Striano, Susanna Negrin, Alberto Danieli, Paolo Bonanni, Francesca F. Operto, Carlo Di Bonaventura, Antonietta Coppola, Alessandro Orsini   +14 more
wiley   +1 more source

X-chromosome upregulation operates on a gene-by-gene basis at RNA and protein levels. [PDF]

Nat Commun
Allsop RN, Boeren J, Tan BF, Merzouk S, Poovanthingal S, van IJcken WFJ, Demmers JAA, Mira Bontenbal H, Gontan C, Gribnau J, Pasque V.   +10 more
europepmc   +1 more source

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity

Epilepsia Open, EarlyView.
The impact of prompt diagnosis and treatment, and early predictors of outcome severity in this cohort. Abstract Objective To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes.
Trupti Jadhav, Sophie E. Bouffler, Emily Innes, Michael Fahey, Matthew Hunter, Kavitha Kothur, Sebastian Lunke, Matthew Lynch, Emma Macdonald‐Laurs, Elizabeth Emma Palmer, Chirag Patel, Jason Pinner, Kate Riney, Rani Sachdev, Sarah A. Sandaradura, Ingrid E. Scheffer, Zornitza Stark, Katherine B. Howell   +17 more
wiley   +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

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

Single-cell RNA sequencing suggests different progenitor lineages between <i>IDH</i> mutant and <i>IDH</i>wt glioma. [PDF]

Neurooncol Adv
Alnahhas I, Kayne A, Khan MM, Shi W.
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

Genomic characterization and prognostic significance of copy number alterations in Tunisian patients with acute lymphoblastic leukemia. [PDF]

PLoS One
Bedoui A, Ayadi W, Louati N, Frikha I, Fakhfakh Y, Smaoui F, Gargouri A, Ben Amor I, Elloumi M, Mdhaffar M, Mokdad Gargouri R.   +10 more
europepmc   +1 more source

AKT, ATR, and Notch Inhibitors Radiosensitize a Preclinical Model of Adenoid Cystic Carcinoma

Head &Neck, EarlyView.
ABSTRACT Background Adenoid Cystic Carcinoma (ACC) is a rare and lethal type of head and neck cancer. Standard therapy involves surgery followed by radiation therapy. The majority of ACC has MYB overexpression and MYB‐NFIB gene fusions, while Notch mutations are associated with aggressive behavior.
Shivani Thoidingjam, Sushmitha Sriramulu, Asya Haider Muratoglu, Stephen Brown, Oudai Hassan, Benjamin Movsas, Haythem Ali, Steven Chang, Patrick Ha, Farzan Siddiqui, Shyam Nyati   +10 more
wiley   +1 more source