Search Results - "Epstein, C. J."

Conditional neuronal deletion of microRNA‐141/200c cluster, but not microRNA‐181a/b‐1 cluster, is protective against experimental stroke in male mice.

Authors: Xu, Lijun Griffiths, Brian Sun, Xiaoyun et al.

Source: Physiological Reports. Aug2025, Vol. 13 Issue 15, p1-7. 7p.

Expansion in situ genome sequencing links nuclear abnormalities to aberrant chromatin regulation.

Authors: Labade, Ajay S. Chiang, Zachary D. Comenho, Caroline et al.

Source: Science. 7/24/2025, Vol. 389 Issue 6758, p1-17. 17p.

Hippocampal gray matter volume alterations in patients with first-episode and recurrent major depressive disorder and their associations with gene profiles.

Authors: Sun, Fenfen Shuai, Yifan Wang, Jingru et al.

Source: BMC Psychiatry. 2/15/2025, Vol. 25 Issue 1, p1-12. 12p.

Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Authors: Rosina, Erica Pezzani, Lidia Apuril, Erika et al.

Source: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-12. 12p.

A de novo variant of BICRA results in Coffin–Siris syndrome 12.

Authors: Tu, Youquan Fang, Chunyan Xu, Jian et al.

Source: Molecular Genetics & Genomic Medicine. Nov2023, Vol. 11 Issue 11, p1-6. 6p.

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Pathophysiological processes underlying hidden hearing loss revealed in Kcnt1/2 double knockout mice.

Authors: Schubert, Nick M. A. Reijntjes, Daniël O. J. van Tuinen, Marcel et al.

Source: Aging Cell. Sep2024, Vol. 23 Issue 9, p1-15. 15p.

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.

Authors: Panigrahi, Inusha Rao, Sudha Verma Kumar, Shalu et al.

Source: Case Reports in Genetics. 8/22/2024, Vol. 2024, p1-8. 8p.

Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD.

Authors: Lob K Sawka DM Gaitanis JN et al.

Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2025 Dec; Vol. 55 (12), pp. 4324-4336. Date of Electronic Publication: 2024 Aug 13.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

The Effect of Angelica sinensis Polysaccharide on Neuronal Apoptosis in Cerebral Ischemia-Reperfusion Injury via PI3K/AKT Pathway.

Authors: Xu, Haibo Chen, Jing Liu, Wenbing et al.

Source: International Journal of Polymer Science; 8/24/2021, p1-8, 8p

Suppression of high-mobility group box 1 ameliorates xerostomia in a Sjögren syndrome-triggered mouse model.

Authors: Wang, Di Zhou, Meilan Wang, Yan et al.

Source: Canadian Journal of Physiology & Pharmacology. 2020, Vol. 98 Issue 6, p351-356.

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.

Authors: Zhuang, Jianlong Zhang, Na Wang, Junyu et al.

Source: Molecular Genetics & Genomic Medicine. Apr2024, Vol. 12 Issue 4, p1-12. 12p.

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing.

Authors: Olayiwola, Joie O. Marhabaie, Mohammad Koboldt, Daniel et al.

Source: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-14. 14p.

Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting.

Authors: Mazzonetto, Patricia C. Villela, Darine da Costa, Silvia Souza et al.

Source: Annals of Human Genetics. Mar2024, Vol. 88 Issue 2, p113-125. 13p.

Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.

Authors: García‐Santiago, Fe Amalia Martínez‐Payo, Cristina Mansilla, Elena et al.

Source: Molecular Genetics & Genomic Medicine. May2021, Vol. 9 Issue 5, p1-6. 6p.

Neurodevelopmental Assessment, EEG Findings and Epilepsy in Children With Autism Spectrum Disorder: A Retrospective Study.

Authors: Didinmez Taşkırdı E Baykan M Özyurt G et al.

Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2026 May 28. Date of Electronic Publication: 2026 May 28.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Brain metabolomic profiling reveals ischemia-dominant disruption of metabolic pathways and tissue homeostasis in neonatal hypoxic-ischemic brain injury.

Authors: Wolff N Triantafyllou M Ghaemmaghami J et al.

Source: Scientific reports [Sci Rep] 2026 May 14; Vol. 16 (1). Date of Electronic Publication: 2026 May 14.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Preliminary Findings on the Use of Array Comparative Genomic Hybridization in Youth with Autism Spectrum Disorder in Qatar: A Case Series Study.

Authors: Khoodoruth, Mohamed Adil Shah Chut-kai Khoodoruth, Widaad Nuzhah Alabdulla, Majid et al.

Source: Journal of Genetic Psychology. Jul/Aug2025, Vol. 186 Issue 4, p317-329. 13p.

Subjects: Autism spectrum disorders, Comparative genomic hybridization, Genetic testing, Individualized medicine, Genetic disorder diagnosis, Medical research, Neural development, Chromosomal rearrangement

Geographic Terms: Qatar

Early‐onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family.

Authors: Hoff, Fieke W. Xing, Chao Simha, Vinaya et al.

Source: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-11. 11p.

Interpretation challenge of small copy number variations in the imprinting regions.

Authors: Ning, Yi Czekalski, Megan Herrada, Sylvia et al.

Source: Molecular Genetics & Genomic Medicine. Jul2022, Vol. 10 Issue 7, p1-4. 4p.