Results 121 to 130 of about 691,001 (359)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

THE TEACHING MEDIA USED BY THE TEACHERS FOR \ud VERBAL INTERMEDIATE AUTISM STUDENTS IN \ud “LABORATORIUM SEKOLAH AUTIS” STATE UNIVERSITY OF MALANG [PDF]

, 2007
Teaching media is very important for autism to compensate the lack of interest in other people \ud that sometimes appear to be an actual version contact with human being. Media used in teaching \ud learning process are varied.
NOVARIA, YULI
core  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Appraisal of Gene Expression‐Based Classifiers for Neuropsychiatric Disorders: A Meta‐Regression

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A substantial body of research examines the potential of gene‐expression‐based biomarkers for diagnosing and selecting treatments for neuropsychiatric disorders, yet no clear consensus has been reached regarding the influence of controllable factors such as study design and model selection on the performance of gene‐expression‐based ...
Ali Razavi, Brittany Arensman, Eric J. Barnett, Leo A. Lee, Stephen V. Faraone, Stephen J. Glatt, Jonathan L. Hess   +6 more
wiley   +1 more source

Alterations in Gut Vitamin and Amino Acid Metabolism are Associated with Symptoms and Neurodevelopment in Children with Autism Spectrum Disorder [PDF]

, 2021
Jiang Zhu, Xueying Hua, Ting Yang, Min Guo, Qiu Li, Lu Xiao, Ling Li, Jie Chen, Tingyu Li   +8 more
openalex   +1 more source

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie, Xinyi Xu, Junhao Chen, Huiling Chen, Meng Li, Yang Zhang, Zhiwei Li, Chen Shen, Jie Wen, Xia Cao   +9 more
wiley   +1 more source

Communication and social interaction in the cannabinoid‐type 1 receptor null mouse: Implications for autism spectrum disorder [PDF]

, 2021
William Fyke, Marika Premoli, Victor Echeverry Alzate, José Antonio López‐Moreno, Valerie Lemaire‐Mayo, Wim E. Crusio, Giovanni Marsicano, Markus Wöhr, Susanna Pietropaolo   +8 more
openalex   +1 more source

Access to services for autistic people across Europe

Molecular Autism
Background Autistic communities in Europe continue to face difficulties accessing services despite increasing rates of autism diagnosis in recent years.
Siti Nurnadhirah Binte Mohd Ikhsan, Rosemary Holt, Joyce Man, Tracey Parsons, Rik Schalbroeck, Amber Ruigrok, Aurélie Baranger, Carrie Allison, Mary Doherty, Katrien Van den Bosch, Jerneja Terčon, Pierre Violland, Anjuli Ghosh, James Cusack, Simon Baron-Cohen   +14 more
doaj   +1 more source

Risk of Developing Type 2 Diabetes in Adolescents and Young Adults With Autism Spectrum Disorder: A Nationwide Longitudinal Study [PDF]

, 2016
Mu‐Hong Chen, Wen-Hsuan Lan, Ju-Wei Hsu, Kai-Lin Huang, Tung‐Ping Su, Cheng‐Ta Li, Shu‐Chen Wei, Chia-Fen Tsai, Shih‐Jen Tsai, Ying-Chiao Lee, Ying-Sheue Chen, Tai‐Long Pan, Wen‐Han Chang, Tzeng‐Ji Chen, Ya‐Mei Bai   +14 more
openalex   +1 more source