Results 31 to 40 of about 70,338 (285)

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

How do medical researchers make causal inferences? [PDF]

, 2019
Bradford Hill (1965) highlighted nine aspects of the complex evidential situation a medical researcher faces when determining whether a causal relation exists between a disease and various conditions associated with it.
Dammann, Olaf, Poston, Ted, Thagard, Paul   +2 more
core   +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

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

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

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

Cost-effectiveness of a potential Zika vaccine candidate: a case study for Colombia [PDF]

, 2018
Background: A number of Zika vaccine platforms are currently being investigated, some of which have entered clinical trials. We sought to evaluate the cost-effectiveness of a potential Zika vaccine candidate under the WHO Vaccine Target Product Profile ...
Moghadas, Seyed, Shoukat, Affan, Vilches, Thomas   +2 more
core   +2 more sources

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

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

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