Results 31 to 40 of about 87,727 (384)

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

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

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

Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly [PDF]

, 2017
Mutations in citron (CIT), leading to loss or inactivation of the citron kinase protein (CITK), cause primary microcephaly in humans and rodents, associated with cytokinesis failure and apoptosis in neural progenitors.
Alessandra Maria Adelaide, Chiotto, Alessandro, Mauro, Alessia, Caramello, Bonaccorsi, Silvia, Chiara, Tocco, Federico Tommaso, Bianchi, Ferdinando Di, Cunto, Francesco, Neri, Francesco, Sgro, Gaia Elena, Berto, Gianmarco, Pallavicini, Laura, Tasca, Lorenzo, Priano, Marta, Gai, Maurizio, Gatti, Merigliano, Chiara, Nadia El, Assawy, Salvatore, Oliviero, Stephan, Geley, Ugo, Ala, Verni', Fiammetta, Yifan, Liu   +21 more
core   +3 more sources

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [PDF]

, 2007
Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling.
A Kramer, A Purohit, Anand Saggar, Andrew P Jackson, Ben Hamel, Bertrand Vernay, C Ponting, Carol-Anne Martin, CG Woods, D Chen, D Diviani, Elen Griffith, F Majewski, F Ruschendorf, GK Alderton, GK Alderton, H Dodson, H Loffler, H Niida, HPG Seckel, J Bond, J Bond, JB Dictenberg, K Miyoshi, M Martinez-Campos, M O'Driscoll, Mark O'Driscoll, MR Flory, Nouriya Al Sanna, P Brown, Paola Vagnarelli, Penny A Jeggo, Q Li, RD Martin, S Doxsey, S Sengupta, S Zhang, Sarah Walker, SJ Doxsey, Tom Stiff, WC Zimmerman, William C Earnshaw, Y Shiloh   +42 more
core   +4 more sources

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

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

The Zika outbreak of the 21st century. [PDF]

, 2016
The Zika virus outbreak has captivated the attention of the global audience and information has spread rapidly and wildly through the internet and other media channels.
Ansari, Aftab, Chang, Christopher, Gershwin, M Eric, Ortiz, Kristina   +3 more
core   +1 more source

Zika virus infection, associated microcephaly, and low yellow fever vaccination coverage in Brazil: is there any causal link?

Journal of Infection in Developing Countries, 2016
Introduction: Since the end of 2014, Zika virus (ZIKV) infection has been rapidly spreading in Brazil. Methodology: To analyze the possible association of yellow fever vaccine with a protective effect against ZIKV-related microcephaly, the following ...
Luciano Pamplona de Góes Cavalcanti, Pedro Luiz Tauil, Carlos Henrique Alencar, Wanderson Oliveira, Mauro Martins Teixeira, Jorg Heukelbach   +5 more
doaj   +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