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Last Updated: 03/06/2025

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Found 190 publications

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

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 30, 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.

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.

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.

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.

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

Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family.

Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family.

Journal: Molecular biology reports
Published: September 12, 2023

Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.

Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.

Journal: Heliyon
Published: August 17, 2023

The impact of TP53 activation and apoptosis in primary hereditary microcephaly.

The impact of TP53 activation and apoptosis in primary hereditary microcephaly.

Journal: Frontiers in neuroscience
Published: May 09, 2023

Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study.

Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study.

Journal: Molecular biology reports
Published: May 01, 2023

A commentary on "Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models".

A commentary on "Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models".

Journal: Journal of human genetics
Published: April 25, 2023

The Multiple Mitotic Roles of the ASPM Orthologous Proteins: Insight into the Etiology of ASPM-Dependent Microcephaly.

The Multiple Mitotic Roles of the ASPM Orthologous Proteins: Insight into the Etiology of ASPM-Dependent Microcephaly.

Journal: Cells
Published: February 10, 2023

The neurodevelopmental transcriptome of the Drosophila melanogaster microcephaly gene abnormal spindle reveals a role for temporal transcription factors and the immune system in regulating brain size.

The neurodevelopmental transcriptome of the Drosophila melanogaster microcephaly gene abnormal spindle reveals a role for temporal transcription factors and the immune system in regulating brain size.

Journal: bioRxiv : the preprint server for biology
Published: January 30, 2023
Showing 1-12 of 190

Last Updated: 03/06/2025