Results 21 to 30 of about 54,392 (259)

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]

, 2012
Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Ostergaard, P, Kantekin, E, Ozkinay, F, Özkınay F., Kantekin, Esin, Ozturk T., Jeffery, S, Fusun Atlihan, Jeffery S., Hazan F., Atlihan, Fusun, Esin Kantekin, ÖZTÜRK, ARİF TAYLAN, Ostergaard P., Steve Jeffery, Ozturk, T, Jeffery, Steve, Kantekin E., Hazan, F, Pia Ostergaard, Taylan Ozturk, Ozkinay, Ferda, Ostergaard, Pia, Filiz Hazan, Atlihan F., Atlihan, F, Ferda Ozkinay, Hazan, Filiz   +27 more
core   +1 more source

Microcephaly

Pediatrics in Review
Citation: 'microcephaly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10955 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Evelyn A O, Aboagye, Ashlee N, Commeree
  +7 more sources

The Frequency of Cytomegalovirus and Toxoplasma Among Microcephalic and Hydrocephalic Neonates Admitted to Pediatric Hospital in Bandar Abbas [PDF]

Disease and Diagnosis, 2020
Background: Congenital infection is a primary cause of malformations during infancy including hydrocephaly and microcephaly. In addition, cytomegalovirus and toxoplasma are the two prevalent causes of congenital infections.
Maryam Rostamian, Seyyed Hossein Saadat, Mohammad Mehdi Mashayekhi, Hosein Hamadiyan, Mehran Ahmadi   +4 more
doaj   +1 more source

Investigating microcephaly [PDF]

Archives of Disease in Childhood, 2013
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.
C Geoffrey, Woods, Alasdair, Parker
openaire   +2 more sources

Small head circumference at birth: an 8-year retrospective cohort study in China

BMJ Paediatrics Open, 2019
Objective Head circumference is considered a reliable assessment of the volume of the underlying brain. We sought to identify risk factors (maternal factors or antenatal antecedents) for microcephaly and to assess the effects of microcephaly on neonatal ...
Wen Sun, Nathalie Auger, Shiliang Liu, Yanmei Pan, Lijuan Dai, Sihui Li, Sushan Xie, Shi Wu Wen, Dunjin Chen   +8 more
doaj   +1 more source

A theoretical estimate of the risk of microcephaly during pregnancy with Zika virus infection

Epidemics, 2016
Objectives: There has been a growing concern over Zika virus (ZIKV) infection, particularly since a probable link between ZIKV infection during pregnancy and microcephaly in the baby was identified.
Hiroshi Nishiura, Kenji Mizumoto, Kat S. Rock, Yohei Yasuda, Ryo Kinoshita, Yuichiro Miyamatsu   +5 more
doaj   +1 more source

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

BMC Neurology, 2020
Background Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations.
Vincent Picher-Martel, Yvan Labrie, Serge Rivest, Baiba Lace, Nicolas Chrestian   +4 more
doaj   +1 more source

Anthropometric craniofacial pattern profiles in microcephaly [PDF]

, 2002
Craniofacial measurements were taken in 60 cases presenting with microcephaly. The cases were classified etiologically and morphologically and the latter was further subclassified.
Gyenis, Gyula, Abdel-Salam, Ghada M.H., Czeizel, Andrew E.   +2 more
core   +3 more sources

CHROMOSOMAL ANALYSIS OF MENTALLY RETARDED CHILDREN WITH MICROCEPHALY [PDF]

, 2011
Background: Mental retardation is a common condition with the incidence of 1- 3% of the entire population; about 25% - 50% of them are genetic causes. Chromosomal causes account for up to 28%.
Afadiyanti, Alfi, Rusdi, Wiyosa Waluyan, Putra, Farmaditya Eka   +2 more
core   +1 more source

A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly

Cells, 2022
Microcephaly presents in neurodevelopmental disorders with multiple aetiologies, including bi-allelic mutation in TUBGCP2, a component of the biologically fundamental and conserved microtubule-nucleation complex, γ-TuRC. Elucidating underlying principles
Slawomir Bartoszewski, Mateusz Dawidziuk, Natalia Kasica, Roma Durak, Marta Jurek, Aleksandra Podwysocka, Dorothy Lys Guilbride, Piotr Podlasz, Cecilia Lanny Winata, Pawel Gawlinski   +9 more
doaj   +1 more source