The Phenotypic Spectrum of WWOX-Related Disorders: 20 Additional Cases of WOREE Syndrome and Review of the Literature [PDF]
Genetics in Medicine, 2019 Purpose: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome).
Juliette Piard +2 more
exaly +6 more sources
Genetic and Functional Evidence Links Germline Biallelic Inactivating Variants in WWOX to Histological Mixed-Type Thyroid Cancer. [PDF]
Adv Sci (Weinh)The role of germline WWOX loss‐of‐function variants in oncogenesis has remained poorly characterized. This study provides the first comprehensive genetic and functional evidence that such variants promote tumorigenesis through the disruption of multiple tumor‐suppressive mechanisms.
Zhang X +8 more
europepmc +2 more sources
WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report [PDF]
Frontiers in PediatricsBackgroundWWOX-related epileptic encephalopathy is an autosomal recessive disorder caused by mutations in the WW-containing oxidoreductase gene, characterized by the onset of refractory seizures in infants.
Dan Feng +5 more
doaj +2 more sources
In vitro human cell culture models in a bench-to-bedside approach to epilepsy. [PDF]
Epilepsia OpenAbstract Epilepsy is the most common chronic neurological disease, affecting nearly 1%–2% of the world's population. Current pharmacological treatment and regimen adjustments are aimed at controlling seizures; however, they are ineffective in one‐third of the patients.
Danačíková Š +4 more
europepmc +2 more sources
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. [PDF]
Genet Med, 2019 The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the ...
Piard J +30 more
europepmc +2 more sources
WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.
Journal of Biochemical and Clinical Genetics, 2023 Background: Autosomal recessive developmental and epileptic encephalopathy type 28 (DEE28) is a rare genetic disorder that affects children in the early months of life.
Moosa Al-Lawati +7 more
doaj +1 more source
Table_1_A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.docx
, 2022 BackgroundWOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or death within the
Valeria Capra (385890) +23 more
core +2 more sources
Prevalence of the metabolic syndrome in Chinese adolescents [PDF]
, 2008 Since national figures on the occurrence of metabolic syndrome among Chinese adolescents are lacking, this study aims to estimate its prevalence and distribution among Chinese youngsters.
Yang, X. +6 more
core +1 more source
Reduced-complexity syndrome-based TTCM decoding [PDF]
, 2013 The iterative decoder of Turbo Trellis Coded Modulation (TTCM) exchanges extrinsic information between the constituent TCM decoders, which imposes a high computational complexity at the receiver. Therefore we conceive the syndrome-based block decoding of
Ng, Soon Xin +2 more
core +1 more source
A pilot study evaluation of the Delta Classroom Canines program's impact on reading and social/emotional skills of selected primary school students at Woree State School, July 2013 to November 2013 [PDF]
, 2014 The Delta Society Australia Ltd. (Delta) Classroom CaninesTM program provides assistance to children who have difficulty with reading and writing, through a Delta dog and handler working with children (students) in a classroom setting.
Sorin, Reesa, Lloyd, Janice
core +1 more source