Autosomal Recessive Primary Microcephaly Latest Advances

Find the Latest Research About Autosomal Recessive Primary Microcephaly

Last Updated: 06/30/2026

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Found 205 publications

The people behind the papers - Degisew Yinur Mengistu and Laura Ciapponi.

The people behind the papers - Degisew Yinur Mengistu and Laura Ciapponi.

Journal: Development (Cambridge, England)

Published: April 30, 2026

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

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

Journal: Fly

Published: October 11, 2025

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Journal: Frontiers in genetics

Published: September 19, 2025

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

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

Journal: Genes

Published: August 27, 2025

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Journal: Journal of genetics

Published: August 13, 2025

Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases.

Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases.

Journal: Molecular genetics & genomic medicine

Published: July 31, 2025

Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.

Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.

Journal: Neurogenetics

Published: July 25, 2025

Microcephaly-associated genes asp and Sas4 influence chromatin organization and nuclear lamina structure in Drosophila melanogaster.

Microcephaly-associated genes asp and Sas4 influence chromatin organization and nuclear lamina structure in Drosophila melanogaster.

Journal: Development (Cambridge, England)

Published: July 23, 2025

A Human Neural Tube Model Using 4D Self-Folding Smart Scaffolds.

A Human Neural Tube Model Using 4D Self-Folding Smart Scaffolds.

Journal: Advanced healthcare materials

Published: July 22, 2025

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

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

Journal: The EMBO journal

Published: June 30, 2025

Whole-exome sequencing reveals a novel variant in two Iranian families with autosomal recessive primary microcephaly.

Whole-exome sequencing reveals a novel variant in two Iranian families with autosomal recessive primary microcephaly.

Journal: Molecular biology reports

Published: April 09, 2025

WDR62 controls cortical radial migration and callosal projection of neurons in the developing cerebral cortex.

WDR62 controls cortical radial migration and callosal projection of neurons in the developing cerebral cortex.

Journal: Neurobiology of disease

Published: April 01, 2025

Showing 1-12 of 205

Last Updated: 06/30/2026