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 …
The PLK4–STIL–SAS-6 module at the core of centriole duplication
C Arquint, EA Nigg - Biochemical Society Transactions, 2016 - portlandpress.com
Centrioles are microtubule-based core components of centrosomes and cilia. They are
duplicated exactly once during S-phase progression. Central to formation of each new …
duplicated exactly once during S-phase progression. Central to formation of each new …
[图书][B] Volpe's Neurology of the Newborn
JJ Volpe, TE Inder, BT Darras, LS de Vries… - 2017 - books.google.com
A clear, engaging writing style, hundreds of full-color images, and new information
throughout make Volpe's Neurology of the Newborn, 6th Edition, an indispensable resource …
throughout make Volpe's Neurology of the Newborn, 6th Edition, an indispensable resource …
Genetics of intellectual disability in consanguineous families
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …
disability (ID) in countries with frequent parental consanguinity, which account for about …
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 …
Autosomal recessive primary microcephaly: not just a small brain
Microcephaly or reduced head circumference results 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 …
Autosomal recessive primary microcephaly (MCPH): an update
Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a
genetically heterogeneous neurodevelopmental disorder characterized by a significantly …
genetically heterogeneous neurodevelopmental disorder characterized by a significantly …
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically
heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples …
heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples …
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)
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 …
ALFY-controlled DVL3 autophagy regulates Wnt signaling, determining human brain size
Primary microcephaly is a congenital neurodevelopmental disorder of reduced head
circumference and brain volume, with fewer neurons in the cortex of the developing brain …
circumference and brain volume, with fewer neurons in the cortex of the developing brain …