Results 121 to 130 of about 500 (134)

eP246: Novel EFTUD2 variant adds to understanding of phenotypic spectrum of mandibulofacial dysostosis with microcephaly

Genetics in Medicine, 2022
Kathleen Shields, Kate Mowrey, Paul Hillman   +2 more
openaire   +1 more source

Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant

2014
Poster ...
Chung, BHY, Amiel, J, Gordon, CT, Tan, TY, Oufadem, M, Chan, HB, Chu, WY, Fung, GPC   +7 more
openaire   +1 more source

First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly

Journal of Obstetrics and Gynaecology, 2021
D-Z Li
exaly  

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

American Journal of Medical Genetics Part A, 2015
Arindam, Sarkar, Lisa T, Emrick, Eboni M, Smith, Elise G, Austin, Yaping, Yang, Jill V, Hunter, Fernando, Scaglia, Seema R, Lalani   +7 more
openaire   +2 more sources

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea

Diagnostics, 2020
So-Young Kim, Da-Hye Lee, Jinhee Han
exaly  

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

American Journal of Medical Genetics, Part A, 2009
Dagmar Wieczorek, Dietmar R Lohmann
exaly  

Association between Zika virus and microcephaly in French Polynesia, 2013–15: a retrospective study

Lancet, The, 2016
Simon Cauchemez, Timothee Dub, Henrik Salje   +2 more
exaly  

Infection-related microcephaly after the 2015 and 2016 Zika virus outbreaks in Brazil: a surveillance-based analysis

Lancet, The, 2017
Wanderson Kleber De Oliveira, Giovanny Vinícius Araújo de França, Eduardo Hage Carmo   +2 more
exaly  

Zika Virus Associated with Microcephaly

New England Journal of Medicine, 2016
Misa Korva, Jože Pižem, Miroslav Petrovec   +2 more
exaly  

Faculty Opinions recommendation of Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2012
openaire   +1 more source