Search Results - "Microcephaly"

Genetic Rescue of Pathogenic O-GlcNAc Dyshomeostasis Associated with Microcephaly and Motor Deficits.

Authors: Authier F Esperon-Abril I Coquelin KS et al.

Source: ENeuro [eNeuro] 2026 Jun 05; Vol. 13 (6). Date of Electronic Publication: 2026 Jun 05 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 101647362 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2822 (Electronic) Linking ISSN: 23732822 NLM ISO Abbreviation: eNeuro Subsets: MEDLINE

Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.

Authors: Hamada N AlAbdi L Uehara T et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2026 Jun; Vol. 18 (6), pp. 2180-2212. Date of Electronic Publication: 2026 May 05.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Expanding the MYCN Variant Spectrum in Feingold Syndrome Type 1: A Novel N-Terminal Missense Variant Segregating in an Affected Family.

Authors: Javier Mérida De la Torre F Porta Pelayo J Ortiz-Martín I

Source: Genes [Genes (Basel)] 2026 May 05; Vol. 17 (5). Date of Electronic Publication: 2026 May 05.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Microcephaly-associated protein WDR62 supports purine metabolism by interacting with co-chaperone BAG2.

Authors: Morris MJ Yeap YY Edwards JR et al.

Source: The EMBO journal [EMBO J] 2026 Apr; Vol. 45 (7), pp. 2157-2181. Date of Electronic Publication: 2026 Mar 05.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Authors: Gong Y Jiang M Wu S et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2026 Feb 19; Vol. 17, pp. 1755251. Date of Electronic Publication: 2026 Feb 19 (Print Publication: 2026).

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

Deficiency of pnkp in zebrafish causes microcephaly, seizures, and developmental delay through mitochondrial dysfunction.

Authors: Wang GH Xiao LL Jia WM et al.

Source: Zoological research [Zool Res] 2026 Mar 18; Vol. 47 (2), pp. 429-443.

Publication Type: Journal Article

Journal Info: Publisher: Science Press Country of Publication: China NLM ID: 101697192 Publication Model: Print Cited Medium: Internet ISSN: 2095-8137 (Print) Linking ISSN: 20958137 NLM ISO Abbreviation: Zool Res Subsets: MEDLINE

Prenatal Diagnosis of a Feingold Syndrome Pregnancy Complicated with Severe Preeclampsia: A Report of a Challenging Case.

Authors: Samara AA Perros P Koutras A et al.

Source: Genes [Genes (Basel)] 2026 Jan 02; Vol. 17 (1). Date of Electronic Publication: 2026 Jan 02.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly.

Authors: Niehaus I Wilsch-Bräuninger M Mora-Bermúdez F et al.

Source: EMBO reports [EMBO Rep] 2026 Jan; Vol. 27 (2), pp. 387-415. Date of Electronic Publication: 2025 Dec 10.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE

Metabolic functions for molecular chaperones and stress proteins in microcephaly.

Authors: Morris MJ Ng DCH

Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2025 Nov 25; Vol. 82 (1), pp. 418. Date of Electronic Publication: 2025 Nov 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

Hirschsprung's disease and Mowat-Wilson syndrome: should a pull-through be performed?

Transliterated Title: Enfermedad de Hirschsprung y síndrome de Mowat-Wilson: ¿debería realizarse un descenso transanal?

Authors: Martain-Pérez I Dávila-Pérez R Fernández-Portilla E et al.

Source: Boletin medico del Hospital Infantil de Mexico [Bol Med Hosp Infant Mex] 2026; Vol. 83 (2), pp. 87-93.

Publication Type: Journal Article

Journal Info: Publisher: Permanyer Country of Publication: Mexico NLM ID: 0414106 Publication Model: Print Cited Medium: Internet ISSN: 1665-1146 (Electronic) Linking ISSN: 05396115 NLM ISO Abbreviation: Bol Med Hosp Infant Mex Subsets: MEDLINE

Expanding the Phenotypic Spectrum of SLC1A4-Related Spastic Tetraplegia: A Case With Novel Multisystem Features.

Authors: Mujahed RH Alawawdeh L Nassar B et al.

Source: Journal of investigative medicine high impact case reports [J Investig Med High Impact Case Rep] 2026 Jan-Dec; Vol. 14, pp. 23247096261440338. Date of Electronic Publication: 2026 Apr 03.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Sage on behalf of: American Federation for Medical Research Country of Publication: United States NLM ID: 101624758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-7096 (Electronic) Linking ISSN: 23247096 NLM ISO Abbreviation: J Investig Med High Impact Case Rep Subsets: MEDLINE

What the fruit fly can tell us about autosomal recessive primary microcephaly.

Authors: Chakraborty S Florez S Schoborg T

Source: Fly [Fly (Austin)] 2025 Dec; Vol. 19 (1), pp. 2572866. Date of Electronic Publication: 2025 Oct 11.

Publication Type: Journal Article; Review

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101470897 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-6942 (Electronic) Linking ISSN: 19336934 NLM ISO Abbreviation: Fly (Austin) Subsets: MEDLINE

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

Authors: Yeter B Kendir Demirkol Y Usluer E et al.

Source: Genes [Genes (Basel)] 2025 Sep 23; Vol. 16 (10). Date of Electronic Publication: 2025 Sep 23.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.

Authors: Wang H; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA 92350, USA.

Source: Genes [Genes (Basel)] 2025 Nov 10; Vol. 16 (11). Date of Electronic Publication: 2025 Nov 10.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly.

Authors: Du X Zhu R Li H et al.

Source: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine [J Ultrasound Med] 2026 Jul; Vol. 45 (7), pp. 1409-1418. Date of Electronic Publication: 2026 Jan 10.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: John Wiley and Sons Country of Publication: England NLM ID: 8211547 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1550-9613 (Electronic) Linking ISSN: 02784297 NLM ISO Abbreviation: J Ultrasound Med Subsets: MEDLINE

EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling.

Authors: Ulmke PA Sakib MS Nguyen DT et al.

Source: Brain : a journal of neurology [Brain] 2026 Jun 03; Vol. 149 (6), pp. 2072-2090.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.

Authors: Gowda VK Roy A Disha B et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jun; Vol. 200 (6), pp. 1418-1422. Date of Electronic Publication: 2026 Jan 28.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Authors: Tibbe D Vogt MR Holling T et al.

Corporate Authors: Tibbe D Vogt MR Holling T et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 May 07; Vol. 113 (5), pp. 1067-1089. Date of Electronic Publication: 2026 Apr 09.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

Authors: Xu J Mao X Liu Z et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2025 Oct; Vol. 17 (10), pp. 2735-2761. Date of Electronic Publication: 2025 Sep 08.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

Authors: Erdogan M Unal A Dogan ME et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64072. Date of Electronic Publication: 2025 Apr 17.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE