Literature DB >> 23814088

Investigating microcephaly.

C Geoffrey Woods1, Alasdair Parker.   

Abstract

1. Microcephaly is a clinical finding, not a 'disease', and is a crude but trusted assessment of intracranial brain volume. 2. Developmental processes reducing in utero neuron generation present at birth with 'Primary microcephaly'. 3. 'Secondary microcephaly' develops after birth and predominantly reflects dendritic or white matter diseases. 4. Microcephalic conditions have a heterogeneous aetiology, but increasingly genomic tests are available that allow an exact diagnosis.

Entities:  

Keywords:  Genetics; Neurodevelopment; Neurology; Paediatric Practice

Mesh:

Year:  2013        PMID: 23814088     DOI: 10.1136/archdischild-2012-302882

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  42 in total

Review 1.  The Putative Role of Environmental Mercury in the Pathogenesis and Pathophysiology of Autism Spectrum Disorders and Subtypes.

Authors:  G Morris; B K Puri; R E Frye; M Maes
Journal:  Mol Neurobiol       Date:  2017-07-22       Impact factor: 5.590

2.  Clinical Factors That Affect the Relationship between Head Circumference and Brain Volume in Very-Low-Birth-Weight Infants.

Authors:  Yukako Kawasaki; Taketoshi Yoshida; Mie Matsui; Akiko Hiraiwa; Satomi Inomata; Kentaro Tamura; Masami Makimoto; Kenichi Oishi
Journal:  J Neuroimaging       Date:  2018-09-10       Impact factor: 2.486

3.  Upregulation of MicroRNA miR-9 Is Associated with Microcephaly and Zika Virus Infection in Mice.

Authors:  Haijun Zhang; Yafei Chang; Longbin Zhang; Seung-Nam Kim; Gaizka Otaegi; Zhen Zhang; Yanzhen Nie; Taufif Mubarak; Cui Li; Cheng-Feng Qin; Zhiheng Xu; Tao Sun
Journal:  Mol Neurobiol       Date:  2018-09-27       Impact factor: 5.590

Review 4.  The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.

Authors:  Belal Shohayeb; Nicholas Rui Lim; Uda Ho; Zhiheng Xu; Mirella Dottori; Leonie Quinn; Dominic Chi Hiung Ng
Journal:  Mol Neurobiol       Date:  2017-09-22       Impact factor: 5.590

5.  A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation.

Authors:  Stephanie C DeLuca; Dory A Wallace; Mary Rebekah Trucks; Konark Mukherjee
Journal:  BMC Res Notes       Date:  2017-12-19

Review 6.  Zika virus infection and pregnancy: what we do and do not know.

Authors:  Carlo Ticconi; Adalgisa Pietropolli; Giovanni Rezza
Journal:  Pathog Glob Health       Date:  2016-09-30       Impact factor: 2.894

7.  Novel CASK mutations in cases with syndromic microcephaly.

Authors:  Francesca Cristofoli; Koen Devriendt; Erica E Davis; Hilde Van Esch; Joris R Vermeesch
Journal:  Hum Mutat       Date:  2018-05-11       Impact factor: 4.878

8.  Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Authors:  Almundher Al-Maawali; Brenda J Barry; Anna Rajab; Malak El-Quessny; Ann Seman; Stephanie Newton Coury; A James Barkovich; Edward Yang; Christopher A Walsh; Ganeshwaran H Mochida; Joan M Stoler
Journal:  Am J Med Genet A       Date:  2015-10-13       Impact factor: 2.802

Review 9.  Human-Specific Genes, Cortical Progenitor Cells, and Microcephaly.

Authors:  Michael Heide; Wieland B Huttner
Journal:  Cells       Date:  2021-05-15       Impact factor: 6.600

10.  Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population.

Authors:  Niaz Muhammad Khan; Basharat Hussain; Chenqing Zheng; Ayaz Khan; Muhammad Shareef Masoud; Qingquan Gu; Linhui Qiu; Naveed Altaf Malik; Muhammad Qasim; Muhammad Tariq; Junlei Chang
Journal:  Front Pediatr       Date:  2021-07-06       Impact factor: 3.418

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.