Autosomal Recessive Primary Microcephaly Latest Advances

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

Journal: Fly

Published: October 11, 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.

Journal: Journal of genetics

Published: August 13, 2025

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.

Journal: Neurobiology of disease

Published: April 01, 2025

The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: March 14, 2025

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report.

Journal: Frontiers in genetics

Published: January 23, 2025

Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: September 30, 2024

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

Journal: American journal of medical genetics. Part A

Published: August 27, 2024

Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene.

Journal: Stem cell research

Published: August 15, 2024

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Journal: Frontiers in medicine

Published: April 28, 2024

Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.

Journal: Molecular biology reports

Published: March 01, 2024

Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript.

Journal: Frontiers in neurology

Published: November 21, 2023

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

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

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.

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.

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.

The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation.

The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation.

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report.

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report.

Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review

Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review

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

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

Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene.

Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene.

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.

Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.

Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript.

Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript.