Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family
Objectives: To identify genetic variation involved in primary microcephaly. Methods: In
present study we identified 4 generation Saudi family showing primary microcephaly. We …
present study we identified 4 generation Saudi family showing primary microcephaly. We …
[PDF][PDF] A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly
MM Hosseini, SH Tonekaboni, E Papari, I Bahman… - J Pak Med …, 2012 - academia.edu
Primary microcephaly (MCPH) is a genetic disorder in which affected individuals present
with a head circumference 3 standard deviations (SDs) below the age-and sex-related mean …
with a head circumference 3 standard deviations (SDs) below the age-and sex-related mean …
A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family
Primary microcephaly (MCPH) is a rare developmental defect characterized by impaired
cognitive functions, retarded neurodevelopment and reduced brain size. It is genetically …
cognitive functions, retarded neurodevelopment and reduced brain size. It is genetically …
A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene
Abstract Autosomal Recessive Primary Microcephaly (MCPH-MIM 251200) is distinguished
by congenital decrease in occipito-frontal head circumference (OFC) of at least 2 standard …
by congenital decrease in occipito-frontal head circumference (OFC) of at least 2 standard …
[HTML][HTML] Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani …
Microcephaly (MCPH) is a developmental anomaly of the brain known by reduced cerebral
cortex and underdeveloped intellectual disability without additional clinical symptoms. It is a …
cortex and underdeveloped intellectual disability without additional clinical symptoms. It is a …
[HTML][HTML] Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation …
I Papoulidis, M Eleftheriades, E Manolakos… - Children, 2022 - mdpi.com
Background: MCPH1 is known as the microcephalin gene (OMIM:* 607117), of which the
encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C …
encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C …
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
Very little is known about the molecular basis of autosomal recessive MR (ARMR) because
in developed countries, small family sizes preclude mapping and identification of the …
in developed countries, small family sizes preclude mapping and identification of the …
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)
M Naveed, SK Kazmi, M Amin, Z Asif, U Islam… - Genetics …, 2018 - cambridge.org
Primary microcephaly (MCPH) is an autosomal recessive sporadic neurodevelopmental
ailment with a trivial head size characteristic that is below 3–4 standard deviations. MCPH is …
ailment with a trivial head size characteristic that is below 3–4 standard deviations. MCPH is …
[HTML][HTML] Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
Abstract Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of
neurogenic mitosis characterized by reduced head circumference at birth with variable …
neurogenic mitosis characterized by reduced head circumference at birth with variable …
Genetic heterogeneity in Pakistani microcephaly families revisited
Autosomal recessive primary microcephaly (MCPH) is a rare and heterogeneous genetic
disorder characterized by reduced head circumference, low cognitive prowess and, in …
disorder characterized by reduced head circumference, low cognitive prowess and, in …