Associated Papers
Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.
Luo S et al.
Heliyon, 2024
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.
Papoulidis I et al.
Children (basel, Switzerland), 2022
The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice.
Wang Y et al.
Cells, 2022
MCPH1: A Novel Case Report and a Review of the Literature.
Caraffi SG et al.
Genes, 2022
35456440 (PubMed )
Supplement: genes-13-00634-s001.zip › Table_S1-MCPH1_Case_Report_v_Literature.xlsx › Table_S1
The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.
Liu X et al.
Cell Death & Disease, 2021
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.
Pavone P et al.
Journal of Pediatric Genetics, 2020
Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.
Naseer MI et al.
Pakistan Journal of Medical Sciences, 2019
Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.
Naseer MI et al.
Neurosciences (riyadh, Saudi Arabia), 2018
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