Results 91 to 100 of about 13,790,477 (113)

The Interplay of Oxidative Stress, Mitochondrial Dysfunction, and Neuroinflammation in Autism Spectrum Disorder: Behavioral Implications and Therapeutic Strategies. [PDF]

Brain Sci
Akhtar A, Rahaman SKB.
europepmc   +1 more source

Chromatinopathies: insight in clinical aspects and underlying epigenetic changes. [PDF]

J Appl Genet
Bukowska-Olech E, Majchrzak-Celińska A, Przyborska M, Jamsheer A.   +3 more
europepmc   +1 more source

Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. [PDF]

Prenat Diagn
Duyzend M, Sud M, D'Gama AM, Poorvu T, Estroff J, Wojcik MH.   +5 more
europepmc   +1 more source

A guide to selecting high-performing antibodies for ADNP (UniProt ID: Q9H2P0) for use in western blot, immunoprecipitation, and immunofluorescence. [PDF]

F1000Res
Ruíz Moleón V, Alende C, Fotouhi M, Ayoubi R, González Bolívar S, Laflamme C, NeuroSGC/YCharOS/EDDU collaborative group, ABIF consortium.   +7 more
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Comprehensive analysis of de novo variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease

Kurtas NE, Sanchis-Juan A, Shin E, Curtis SW, Robinson KR, Lee AS, Alade AA, Zhao X, Fu J, Diaz Perez KK, Gowans LJJ, Eshete MA, Adeyemo WL, Buxó CJ, Padilla CD, Poletta FA, Carreno Torres A, Wehby GL, Hecht JT, Moreno Uribe LM, Mukhopadhyay N, Shaffer JR, Weinberg SM, Murray JC, Beaty TH, Butali A, Talkowski M, Marazita ML, Leslie-Clarkson EJ, Brand H.   +29 more
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Clinical and Genetic Characterization of Patients with ADNP Related Helsmoortel-Van der Aa Syndrome

Indian Journal of Pediatrics
Amita Moirangthem, Deepti Saxena
exaly   +3 more sources

[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing.
Jian, Ma, Haixia, Ma, Kaihui, Zhang, Yuqiang, Lyu, Min, Gao, Dong, Wang, Zhongtao, Gai, Yi, Liu   +7 more
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Helsmoortel-Van Der Aa Syndrome (HVDAS)

Ali Alishvandi, Sara Hanaei
exaly   +2 more sources

[Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP gene and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023
To summarize the clinical features and biological characteristics of Helsmoortel Van der Aa syndrome (HVDAS) due to hotspot mutations of the ADNP gene in order to facilitate early diagnosis.Clinical data and result of genetic testing for a girl with HVDAS due to hotspot mutation of the ADNP gene was summarized.
Xiu, Zhao, Zhe, Su, Zhongwei, Xu, Huiping, Su, Rongfei, Zheng   +4 more
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Molecular and functional study of two frequent syndromic Autism Spectrum Disorders : Helsmoortel-Van der Aa Syndrome and Fragile X Syndrome

2021
Abstract: Neurodevelopmental disorders enclose a heterogeneous group of conditions implicating central nervous system development. The majority of cases are caused by genetic defects. Mutations in the genes encoding Activity-Dependent Neuroprotective Protein (ADNP) and Fragile X Mental Retardation Protein (FMRP) make up the two common genetic causes of
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