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Academic Journal

A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.

  • Authors : Jahanpanah M; Department of Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.; Mokhtari D

Subjects: Microcephaly*/Microcephaly*/Microcephaly*/genetics ; Microcephaly*/Microcephaly*/Microcephaly*/diagnosis ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2424.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.

  • Authors : Li J; Tianjin Children's Hospital (Children's Hospital, Tianjin University), Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.

Subjects: Microcephaly*/Microcephaly*/Microcephaly*/genetics ; Microcephaly*/Microcephaly*/Microcephaly*/diagnosis ; Psychomotor Disorders* Phosphoserine Aminotransferase Deficiency

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2400.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Microcephaly with a disproportionate hippocampal reduction, stem cell loss and neuronal lipid droplet symptoms in Trappc9 KO mice.

  • Authors : Aljuraysi S; Department of Biochemistry, Cell and Systems Biology, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK; Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Subjects: Microcephaly*/Microcephaly*/Microcephaly*/genetics ; Microcephaly*/Microcephaly*/Microcephaly*/metabolism; Animals

  • Source: Neurobiology of disease [Neurobiol Dis] 2024 Mar; Vol. 192, pp. 106431. Date of Electronic Publication: 2024 Feb 07.Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

  • Authors : Fellows BJ; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Tolezano GC

Subjects: Kinetochores*/Kinetochores*/Kinetochores*/metabolism ; Kinetochores*/Kinetochores*/Kinetochores*/pathology ; Microcephaly*/Microcephaly*/Microcephaly*/genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63468. Date of Electronic Publication: 2023 Nov 08.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A Zika virus protein expression screen in Drosophila to investigate targeted host pathways during development.

  • Authors : Link N; Department of Neurobiology, University of Utah, Salt Lake City, UT, 84112, USA.; Howard Hughes Medical Institute, Baylor College of Medicine (BCM), Houston, TX, 77030, USA.

Subjects: Zika Virus*/Zika Virus*/Zika Virus*/metabolism ; Zika Virus Infection* ; Microcephaly*/Microcephaly*/Microcephaly*/epidemiology

  • Source: Disease models & mechanisms [Dis Model Mech] 2024 Feb 01; Vol. 17 (2). Date of Electronic Publication: 2024 Feb 28.Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.

  • Authors : Liu J; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, People's Republic of China.; Liu Q

Subjects: Microcephaly*/Microcephaly*/Microcephaly*/diagnostic imaging ; Microcephaly*/Microcephaly*/Microcephaly*/genetics; Humans

  • Source: European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2024 Feb; Vol. 293, pp. 57-66. Date of Electronic Publication: 2023 Dec 12.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 0375672 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Neuroinflammation, blood-brain barrier dysfunction, hippocampal atrophy and delayed neurodevelopment: Contributions for a rat model of congenital Zika syndrome.

  • Authors : Dos Santos AS; Programa de Pós-Graduação em Neurociências, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Departamento de Ciências Morfológicas, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

Subjects: Zika Virus Infection*/Zika Virus Infection*/Zika Virus Infection*/complications ; Zika Virus Infection*/Zika Virus Infection*/Zika Virus Infection*/diagnosis ; Zika Virus*/Zika Virus*/Zika Virus*/physiology

  • Source: Experimental neurology [Exp Neurol] 2024 Apr; Vol. 374, pp. 114699. Date of Electronic Publication: 2024 Jan 30.Publisher: Academic Press Country of Publication: United States NLM ID: 0370712 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.

  • Authors : Ulhaq ZS; Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Kyushu University, Faculty of Agriculture, Fukuoka, Fukuoka, Japan.; Research Center for Pre-Clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia, Cibinong, Indonesia.

Subjects: Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/genetics ; Microcephaly*/Microcephaly*/Microcephaly*/genetics; Humans

  • Source: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2024 Apr; Vol. 61 (4), pp. 688-696. Date Publisher: SAGE Publications in Association with American Cleft Palate-Craniofacial Association Country of Publication: United States NLM ID: 9102566 Publication

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Academic Journal

Epigenetic and transcriptional landscapes during cerebral cortex development in a microcephaly mouse model.

  • Authors : Yang Q; School of Medicine, Shenzhen Campus of Sun Yat-sen University, Shenzhen, Guangdong 518107, China; Academy of Medical Engineering and Translational Medicine, Tianjin University, Tianjin 300072, China.

Subjects: Microcephaly*/Microcephaly*/Microcephaly*/genetics; Animals ; Mice Microcephaly, Primary Autosomal Recessive, 1

  • Source: Journal of genetics and genomics = Yi chuan xue bao [J Genet Genomics] 2024 Apr; Vol. 51 (4), pp. 419-432. Date of Electronic Publication: 2023 Nov 01.Publisher: Science press Country of Publication: China NLM ID: 101304616 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Cohen syndrome combined with psychiatric symptoms: a case report.

  • Authors : Li X; Shandong Mental Health Center, Shandong University, Mail Code: 250014, 49# Wenhua Eastern Road, Jinan, Shandong Province, P.R. China.; Qi S

Subjects: Microcephaly*/Microcephaly*/Microcephaly*/diagnosis ; Microcephaly*/Microcephaly*/Microcephaly*/genetics ; Obesity* Cohen syndrome

  • Source: BMC psychiatry [BMC Psychiatry] 2024 Mar 04; Vol. 24 (1), pp. 180. Date of Electronic Publication: 2024 Mar 04.Publisher: BioMed Central Country of Publication: England NLM ID: 100968559 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-244X

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  • 1-10 of  13,026 results for ""MICROCEPHALY""