Results 181 to 190 of about 43,167 (288)

X-linked intellectual disability, Abidi type [PDF]

, 2020
openaire   +1 more source

Sleep disturbance as a transdiagnostic marker of children's mental health difficulties: A network analysis of item‐level associations between different types of sleep problems and different behavioural and emotional symptoms

JCPP Advances, EarlyView.
Abstract Background Sleep disturbances are widely considered to be a transdiagnostic feature of common behavioural and emotional difficulties in childhood, yet most studies treat sleep as a single construct. Where studies have explored specific sleep problems to psychopathology in children, these tend to only include behavioural or emotional ...
Alina A. Marinca, Julia E. Michalek, Alice M. Gregory, Afia Ali, Jennifer Y. F. Lau   +4 more
wiley   +1 more source

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability. [PDF]

Ann Neurol
Roychaudhury A, Lee YR, Choi TI, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Kim TY, Lee KH, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Gerlai R, Kim HG, Graziano C, Pippucci T, Iovino E, Montanari F, Severi G, Toro C, Boerkoel CF, Cha HS, Choi CY, Kim S, Yoon JH, Gilmore K, Vora NL, Davis EE, Chudley AE, Schwartz CE, Kim CH.   +38 more
europepmc   +1 more source

X-linked intellectual disability, Stoll type [PDF]

, 2020
openaire   +1 more source

The Role of HUWE1 on Mouse Neural Cell Proliferation and Zebrafish Neurodevelopment

Medicine Bulletin, EarlyView.
ABSTRACT The HECT, UBA, and WWE domain‐containing E3 ubiquitin protein ligase 1 (HUWE1) gene is located on the X chromosome and has been implicated in neurodevelopmental disorders. However, the mechanisms by which HUWE1 dosage affects nervous system development remain poorly understood. In this study, we demonstrate that HUWE1 overexpression suppresses
Haojuan Wu, Gan Shen, Xueguang Zhang, Xiang Wang, Tiechao Ruan, Chuan Jiang, Yunchuan Tian, Xinyao Tang, Jun Ma, Wenming Xu, Ying Shen   +10 more
wiley   +1 more source

X-linked Intellectual Disability with Novel Chromosome 9p12-pter Unbalanced Translocation on Chromosome Xp. [PDF]

Intern Med
Maeda K, Sugihara Y.
europepmc   +1 more source

X-linked intellectual disability, Snyder type [PDF]

, 2020
openaire   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

A novel variant of ATRX gene is potentially associated with alpha-thalassemia X-linked intellectual disability syndrome: Case report and literature review. [PDF]

SAGE Open Med Case Rep
Sarah B, Amal T, Bouchaib G, Hind D.
europepmc   +1 more source

X-linked intellectual disability-plagiocephaly syndrome [PDF]

, 2020
openaire   +1 more source