Results 41 to 50 of about 43,167 (288)

IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]

, 2010
Backgrounds: X-linked mental retardation (XLMR) has been the focus of MR research because of 40% excess of males with MR. Genetic defects are estimated to account for 50% MR cases.
Fitri, Aditia Retno
core  

Living with stigma and the self-perceptions of people with mild intellectual disabilities [PDF]

, 2010
There is now overwhelming evidence concerning the awareness people with moderate to mild intellectual disabilities' have about the stigma they experience in their lives.
Kirsten Stalker, Cairney, A., Wilson, A., Alastair Wilson, Jahoda, A., Wilson, Alastair, Stalker, K., Andrew Jahoda, Anja Cairney   +8 more
core   +1 more source

Hijacking emergency granulopoiesis: Neutrophil ontogeny and reprogramming in cancer

Molecular Oncology, EarlyView.
Neutrophils are highly plastic innate immune cells; their functions in cancer extend beyond the tumour microenvironment. This Review summarises current understanding of neutrophil maturation and heterogeneity and highlights tumour‐induced granulopoiesis as a systemic programme that expands immature, immunosuppressive neutrophils via tumour‐derived ...
Gabriela Marinescu, Yi Feng
wiley   +1 more source

Screening for Intellectual Disability in Children: A Review of the Literature

, 2011
BACKGROUND: Early identification of possible intellectual disability can help children and families access appropriate services and support more quickly. There has been an increasing interest in the use of screening tools for this purpose.
Megson, Paula, Paula Megson, Karen McKenzie, McKenzie, Karen   +3 more
core   +1 more source

Impact of Asymptomatic Intracranial Hemorrhage on Outcome After Endovascular Stroke Treatment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Endovascular treatment (EVT) achieves high rates of recanalization in acute large‐vessel occlusion (LVO) stroke, but functional recovery remains heterogeneous. While symptomatic intracranial hemorrhage (sICH) has been well studied, the prognostic impact of asymptomatic intracranial hemorrhage (aICH) after EVT is less certain ...
Shihai Yang, Chengsong Yue, Zhuang Li, Xiaolei Shi, Haoxuan Zhu, Jie Yang, Linyu Li, Jiaxing Song, Shitao Fan, Gaoming Li, Wenzhe Sun, Zhixian Ye, Jiacheng Huang, Dahong Yang, Jinfu Ma, Xu Xu, Zhixi Wang, Lilan Wang, Guojian Liu, Fengli Li, Changwei Guo, Li Qi, Wenjie Zi   +22 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. [PDF]

J Clin Med, 2020
We report a genomic and phenotypic delineation for two chromosome regions with candidate genes for syndromic intellectual disability at 12q12 and Xp22.31, segregating independently in one family with four affected members.
Labonne JDJ, Driessen TM, Harris ME, Kong IK, Brakta S, Theisen J, Sangare M, Layman LC, Kim CH, Lim J, Kim HG.   +10 more
europepmc   +2 more sources

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. [PDF]

PLoS ONE, 2017
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and ...
Christina Grau, Molly Starkovich, Mahshid S Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R Lalani, Daryl A Scott   +8 more
doaj   +1 more source

Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis

Frontiers in Genetics, 2022
Background: Genetic causes in most affected children with intellectual disability and/or development delay remain unknown.Methods: To identify potential variants responsible for these disorders, we recruited 161 affected families and performed whole ...
Tao Cai, Tao Cai, Jieting Huang, Jieting Huang, Xiuwei Ma, Siqi Hu, Siqi Hu, Lina Zhu, Jinwen Zhu, Zhichun Feng, Zhichun Feng, Zhichun Feng   +11 more
doaj   +1 more source