The genetics of primary microcephaly
Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …
development that results in a head circumference more than 3 standard deviations below …
[HTML][HTML] Dissecting the genetic and etiological causes of primary microcephaly
F Jean, A Stuart, M Tarailo-Graovac - Frontiers in neurology, 2020 - frontiersin.org
Autosomal recessive primary microcephaly (MCPH;“small head syndrome”) is a rare,
heterogeneous disease arising from the decreased production of neurons during brain …
heterogeneous disease arising from the decreased production of neurons during brain …
What primary microcephaly can tell us about brain growth
Autosomal recessive primary microcephaly (MCPH) is a neuro-developmental disorder that
causes a great reduction in brain growth in utero. MCPH is hypothesized to be a primary …
causes a great reduction in brain growth in utero. MCPH is hypothesized to be a primary …
[PDF][PDF] Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder. It is
characterized by two principal features, microcephaly present at birth and nonprogressive …
characterized by two principal features, microcephaly present at birth and nonprogressive …
[PDF][PDF] Identification of microcephalin, a protein implicated in determining the size of the human brain
AP Jackson, H Eastwood, SM Bell, J Adu… - The American Journal of …, 2002 - cell.com
Primary microcephaly (MIM 251200) is an autosomal recessive neurodevelopmental
condition in which there is a global reduction in cerebral cortex volume, to a size …
condition in which there is a global reduction in cerebral cortex volume, to a size …
Congenital microcephaly
D Alcantara, M O'Driscoll - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial.
Recently, with the exponential growth in the identification and characterization of novel …
Recently, with the exponential growth in the identification and characterization of novel …
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation
E Roberts, DJ Hampshire, L Pattison… - Journal of medical …, 2002 - jmg.bmj.com
Background and objectives: Locus heterogeneity is well established in autosomal recessive
primary microcephaly (MCPH) and to date five loci have been mapped. However, the …
primary microcephaly (MCPH) and to date five loci have been mapped. However, the …
Genetic causes of microcephaly and lessons for neuronal development
EC Gilmore, CA Walsh - Wiley Interdisciplinary Reviews …, 2013 - Wiley Online Library
The study of human developmental microcephaly is providing important insights into brain
development. It has become clear that developmental microcephalies are associated with …
development. It has become clear that developmental microcephalies are associated with …
[HTML][HTML] Autosomal recessive primary microcephaly: not just a small brain
Microcephaly or reduced head circumference result from a multitude of abnormal
developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal …
developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal …
Molecular and cellular basis of autosomal recessive primary microcephaly
M Barbelanne, WY Tsang - BioMed research international, 2014 - Wiley Online Library
Autosomal recessive primary microcephaly (MCPH) is a rare hereditary
neurodevelopmental disorder characterized by a marked reduction in brain size and …
neurodevelopmental disorder characterized by a marked reduction in brain size and …