Search Results

ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.

• Authors : Woods E; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.

Subjects: Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Abnormalities, Multiple*

• Source: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 470-487. Date of Electronic Publication: 2024 Feb 29.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes of STXBP1 Encephalopathy.

• Authors : Joo Hyun Kim; Wu Chen; Chao, Eugene S.

Subjects: BRAIN diseases; SYNAPTIC vesicles; NEURONS

• Source: Journal of Neuroscience; 4/3/2024, Vol. 44 Issue 14, p1-19, 19p

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Insights for disease modeling from single-cell transcriptomics of iPSC-derived Ngn2-induced neurons and astrocytes across differentiation time and co-culture.

• Authors : Das, D.¹ (AUTHOR); Sonthalia, S.² (AUTHOR); Stein-O.’Brien, G.¹ (AUTHOR)

• Source: BMC Biology. 4/2/2024, Vol. 22 Issue 1, p1-19. 19p.

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The gut metabolite indole-3-propionic acid activates ERK1 to restore social function and hippocampal inhibitory synaptic transmission in a 16p11.2 microdeletion mouse model.

• Authors : Jiang, Jian; Wang, Dilong; Jiang, Youheng

Subjects: GUT microbiome; SOCIAL skills; NEURAL transmission

• Source: Microbiome; 3/28/2024, Vol. 12 Issue 1, p1-22, 22p

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Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

• Authors : Bourgois A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France.; Bizaoui V

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63457. Date of Electronic Publication: 2023 Oct 26.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Dietary and Metabolic Approaches for Treating Autism Spectrum Disorders, Affective Disorders and Cognitive Impairment Comorbid with Epilepsy: A Review of Clinical and Preclinical Evidence.

• Authors : Iyer, Shruthi H.; Yeh, Mary Y.; Netzel, Lauren

• Source: Nutrients; Feb2024, Vol. 16 Issue 4, p553, 17p

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What's in a name? The costs and benefits of a formal autism diagnosis.

• Authors : Fletcher-Watson, Sue

Subjects: DIAGNOSIS of autism; TREATMENT of autism; HEALTH services accessibility

• Source: Autism: The International Journal of Research & Practice; Feb2024, Vol. 28 Issue 2, p257-262, 6p

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Functional brain network alterations in the co-occurrence of autism spectrum disorder and attention deficit hyperactivity disorder.

• Authors : Lin, Qiwen¹; Shi, Yafei²; Huang, Huiyuan¹

Subjects: *DIAGNOSIS of autism; *BRAIN mapping; *MAGNETIC resonance imaging

• Source: European Child & Adolescent Psychiatry. Feb2024, Vol. 33 Issue 2, p369-380. 12p.

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Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.

• Authors : Wang, Xiaomeng^1,2; Ling, Zhengbao²; Luo, Tengfei²

Subjects: *HYPERTENSION in pregnancy; *PROTEINS; *GENETIC mutation

• Source: Journal of Autism & Developmental Disorders. Feb2024, Vol. 54 Issue 2, p749-764. 16p.

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Nature-Based Interventions for Adults with Developmental Disabilities: A Scoping Review Centering Autistic Adults.

• Authors : Dennis, Megan; Henderson-Wilson, Claire; Watson, Joanne

• Source: Sustainability (2071-1050); Feb2024, Vol. 16 Issue 3, p1077, 14p

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