The genetics of primary microcephaly

D Jayaraman, BI Bae, CA Walsh - Annual review of genomics …, 2018 - annualreviews.org
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 …

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 …

[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 …

Genetics of intellectual disability in consanguineous families

H Hu, K Kahrizi, L Musante, Z Fattahi, R Herwig… - Molecular …, 2019 - nature.com
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
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 …

Autosomal recessive primary microcephaly: not just a small brain

S Zaqout, AM Kaindl - Frontiers in Cell and Developmental Biology, 2022 - frontiersin.org
Microcephaly or reduced head circumference results from a multitude of abnormal
developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal …

Autosomal recessive primary microcephaly (MCPH): an update

S Zaqout, D Morris-Rosendahl, AM Kaindl - Neuropediatrics, 2017 - thieme-connect.com
Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a
genetically heterogeneous neurodevelopmental disorder characterized by a significantly …

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

KL Stals, M Wakeling, J Baptista, R Caswell… - Prenatal …, 2018 - Wiley Online Library
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 …

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 …

ALFY-controlled DVL3 autophagy regulates Wnt signaling, determining human brain size

R Kadir, T Harel, B Markus, Y Perez, A Bakhrat… - PLoS …, 2016 - journals.plos.org
Primary microcephaly is a congenital neurodevelopmental disorder of reduced head
circumference and brain volume, with fewer neurons in the cortex of the developing brain …