Results 111 to 120 of about 8,409,709 (279)

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant

Rare
Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay ...
Megumi Leung, Meredith Sanchez-Castillo, Newell Belnap, Marcus Naymik, Anna Bonfitto, Jennifer Sloan, Katie Hassett, Wayne M. Jepsen, Aravind Sankaramoorthy, Tracy Murray Stewart, Jackson R. Foley, Sampathkumar Rangasamy, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey   +14 more
doaj   +1 more source

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

Frontiers in Genetics, 2019
X-linked intellectual disability (XLID) is known to explain up to 10% of the intellectual disability in males. A large number of families in which intellectual disability is the only clinically consistent manifestation have been described.
María Isabel Tejada, María Isabel Tejada, María Isabel Tejada, Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Ana Belén de la Hoz, Ana Belén de la Hoz, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Elena Beristain, Francisco Martínez, Michael J. Friez, Beatriz Sobrino, Beatriz Sobrino, Francisco Barros, Francisco Barros   +19 more
doaj   +1 more source

Inquiry into access to and interaction with the justice system by people with an intellectual disability and their families and carers [PDF]

, 2013
The Committee was asked to consider the access and interactions that people with an intellectual disability or cognitive impairment have with the justice system.

core  

Upadacitinib Restrains the Pathogenic Fitness of CD4+ T Cells and Aberrant B Cell Programming in Optic Neuritis

Advanced Science, EarlyView.
Single‐cell profiling and functional perturbation reveal coordinated JAK1‐pSTAT3 downstream programs in optic neuritis, including MCL1‐dependent fitness of pathogenic CD4+ Tem cells and glycolysis‐linked, cholesterol‐sensitive B‐cell responses associated with RORA. Upadacitinib disrupts this reciprocal T‐B‐cell circuit and alleviates neuroinflammation,
Gengchen Jiang, Qi Jiang, Lian Han, Yue Peng, Xingyu Liu, Tong Yang, Hao Huang, Jiaying Liu, Yuan Gao, Hui Yang, Wenjun Zou, Zhaohuai Li, Wenru Su   +12 more
wiley   +1 more source

The Validity of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) with children aged 6–7 years, 11 months: A brief report [PDF]

, 2013
We examined the performance of the Child and Adolescent Intellectual Disability Screening Questionnaire with 103 young children aged 6–7 years, 11 months referred to mental health services.
Murray, Aja Louise, McKenzie, Karen, Murray, George   +2 more
core   +1 more source

Beyond Conventional: A Review of Phytochemical‐Hydrogel Systems Enhanced by AI and 3D Printing for Chronic Wound Management

Advanced Science, EarlyView.
This review systematically bridges chronic wound pathology with natural phytochemical hydrogel therapeutics. A pathology‐to‐phytochemical mechanistic mapping framework is established, linking specific wound hallmarks to targeted phytochemical interventions.
Yitao Zhou, Xing Liu, Cuiyi Wang, Xiaoxuan Zhao, Pengrun Zhang, Jingjing Gu, Qiuhua Sun, Malcolm Xing, Yeqin Yang   +8 more
wiley   +1 more source

Familial STAG2 germline mutation defines a new human cohesinopathy

npj Genomic Medicine, 2017
Intellectual disability: mutation in cell cycle protein causes developmental disease A newly discovered developmental disease is characterized by mutations in a subunit of the cohesin protein involved in cell division. A team led by Sérgio Pena from GENE—
Fernanda C. Soardi, Alice Machado-Silva, Natália D. Linhares, Ge Zheng, Qianhui Qu, Heloísa B. Pena, Thaís M. M. Martins, Helaine G. S. Vieira, Núbia B. Pereira, Raquel C. Melo-Minardi, Carolina C. Gomes, Ricardo S. Gomez, Dawidson A. Gomes, Douglas E. V. Pires, David B. Ascher, Hongtao Yu, Sérgio D. J. Pena   +16 more
doaj   +1 more source

Measurement invariance in the assessment of people with an intellectual disability [PDF]

, 2011
Intellectual assessment is central to the process of diagnosing an intellectual disability and the assessment process needs to be valid and reliable. One fundamental aspect of validity is that of measurement invariance, i.e.
MacLean, Hannah, Kidd, Gill, Schwannauer, Matthias, Aja L. Murray, Gill Kidd, Hannah MacLean, Karen McKenzie, Matthias Schwannauer, Murray, Aja Louise, McKenzie, Karen   +9 more
core   +1 more source

Global Burden and Temporal Trends of Early‐Onset Tracheal, Bronchial, and Lung Cancer: An Analysis of GLOBOCAN 2022 and GBD 2023 Data

Advanced Science, EarlyView.
This study systematically assessed the global burden and temporal trends of EOTBL cancer in individuals aged 15–49 years. Smoking, ambient particulate matter pollution, and secondhand smoke remain dominant risk factors. Countries within the same Human Development Index (HDI) category exhibit distinct epidemiological trajectories, underscoring the need ...
Ye Tian, Weihao Zhang, Yao Lu, Bruce F. O'Hara, Jingjing Hu, Hanqi Feng, Jing Di, Lei Zhang, Xueying Yang   +8 more
wiley   +1 more source

Surface‐Engineered Ti3C2Tx MXene/Cu2O Photocathodes for Highly Selective Photoelectrocatalytic CO2 Reduction to Ethanol

Advanced Energy Materials, EarlyView.
Surface‐engineering Ti3C2Tx MXenes with an in situ‐grown TiO2 layer on the surface in combination with visible‐light‐absorbing Cu2O significantly enhances charge separation and carrier extraction while improving Cu2O resistance to photocorrosion. The resulting Cu2O/TiO2‐MXene photocathodes enable highly selective, solar‐driven ethanol production ...
Luis A. M. Carrascosa, Magdaléna Linková, Monika Remzová, Tomáš Hrbek, Pavla Eliášová   +4 more
wiley   +1 more source