Results 201 to 210 of about 43,167 (288)

[X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion]. [PDF]

Rev Neurol
Arroyo-Carrera I, Romero-Peguero R, Martín-Fernández R, Ramajo-Polo A, García-Navas Núñez V.   +4 more
europepmc   +1 more source

Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways. [PDF]

Exp Neurol, 2020
Patel PA, Liang C, Arora A, Vijayan S, Ahuja S, Wagley PK, Settlage R, LaConte LEW, Goodkin HP, Lazar I, Srivastava S, Mukherjee K.   +11 more
europepmc   +1 more source

Syndromic X-linked intellectual disability 7 [PDF]

, 2020
openaire   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants. [PDF]

Mol Syndromol, 2020
Sandestig A, Green A, Aronsson J, Ellnebo K, Stefanova M.   +4 more
europepmc   +1 more source

X-linked intellectual disability, Hedera type [PDF]

, 2020
openaire   +1 more source

Lactate Dehydrogenase A and a Novel Four‐Gene Signature as Dual Diagnostic Markers for Lung Adenocarcinoma and Ischemic Stroke

Medicine Advances, EarlyView.
This study identified shared molecular alterations between lung adenocarcinoma (LUAD) and ischemic stroke (IS) through integrative transcriptomic analysis of TCGA‐LUAD and GSE146882 datasets, revealing a four‐gene diagnostic signature (LDHA, NME4, SLC25A39, and SLC7A5) with high accuracy across both diseases. Among these, LDHA was further identified as
Jin Xie, Gao‐Chun Xiao, Xin‐Yang Qu, Rui‐Min Wu, Yu‐Long Zou, Xue Hu, Xu‐Sheng Liu   +6 more
wiley   +1 more source

X-linked intellectual disability, Seemanova type [PDF]

, 2020
openaire   +1 more source

Urinary Incontinence and Risk of All‐Cause Mortality: A Systematic Review and Meta‐Analysis of Observational Studies

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims Urinary incontinence (UI) is a prevalent condition among adults and imposes a substantial societal burden, yet its association with all‐cause mortality remains uncertain. This study systematically reviewed and quantified the association between UI and mortality risk.
Yanyan Zhou, Liwei Wang, Weijia Sun, Zhong Wang, Kuiqing Shao, Feng Xu, Zhan Gao   +6 more
wiley   +1 more source

Novel USP9X variants in two patients with X-linked intellectual disability. [PDF]

Hum Genome Var, 2019
Tsurusaki Y, Kuroda Y, Yamanouchi Y, Kondo E, Ouchi K, Kimura Y, Enomoto Y, Aida N, Masuno M, Kurosawa K.   +9 more
europepmc   +1 more source