Results 1 to 10 of about 22,198 (205)

Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]

BMC Medical Genetics, 2017
Background Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz   +6 more
doaj   +7 more sources

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report [PDF]

Diagnostics, 2021
Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens ...
Vivian Kwun Sin Ng, Tze Kin Lau, Anita Sik Yau Kan, Brian Hon Yin Chung, Ho Ming Luk, Wai Fu Ng, Mengmeng Shi, Kwong Wai Choy, Ye Cao, Wing Cheong Leung   +9 more
doaj   +2 more sources

Genomic and phenotypic delineation of congenital microcephaly. [PDF]

Genet Med, 2019
Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM.Clinical phenotyping, targeted or exome sequencing, and autozygome analysis.We describe 150 patients (104 families) with 56 Mendelian forms of CM.
Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS.   +46 more
europepmc   +6 more sources

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review [PDF]

BMC Medical Genetics, 2017
Background Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors. Case presentation
Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He   +6 more
doaj   +2 more sources

Socioeconomic disparities associated with symptomatic Zika virus infections in pregnancy and congenital microcephaly: A spatiotemporal analysis from Goiânia, Brazil (2016 to 2020). [PDF]

PLoS Neglected Tropical Diseases, 2022
The Zika virus (ZIKV) epidemic, which was followed by an unprecedented outbreak of congenital microcephaly, emerged in Brazil unevenly, with apparent pockets of susceptibility.
Luiza Emylce Pela Rosado, Erika Carvalho de Aquino, Elizabeth Bailey Brickley, Divania Dias da Silva França, Fluvia Pereira Amorim Silva, Vinicius Lemes da Silva, Angela Ferreira Lopes, Marilia Dalva Turchi   +7 more
doaj   +2 more sources

The Unfolded Protein Response: A Key Player in Zika Virus-Associated Congenital Microcephaly [PDF]

Frontiers in Cellular Neuroscience, 2019
Zika virus (ZIKV) is a mosquito-borne virus that belongs to the Flaviviridae family, together with dengue, yellow fever, and West Nile viruses. In the wake of its emergence in the French Polynesia and in the Americas, ZIKV has been shown to cause ...
Christian Alfano, Ivan Gladwyn-Ng, Thérèse Couderc, Thérèse Couderc, Marc Lecuit, Marc Lecuit, Marc Lecuit, Laurent Nguyen   +7 more
doaj   +2 more sources

Biallelic mutations in UGDH cause congenital microcephaly. [PDF]

Genes Dis, 2023
Shu L, Xie G, Mei D, Xu R, Liu S, Xiao B, Li X, Xie Y, Mao X, Wang H.   +9 more
europepmc   +4 more sources

Congenital microcephaly unrelated to flavivirus exposure in coastal Kenya. [PDF]

Wellcome Open Res, 2019
Background: Zika virus (ZIKV) was first discovered in East Africa in 1947.  ZIKV has caused microcephaly in the Americas, but it is not known whether ZIKV is a cause of microcephaly in East Africa. Methods: We used surveillance data from 11,061 live births at Kilifi County Hospital in coastal Kenya between January 2012 and October 2016 to identify ...
Barsosio HC, Gitonga JN, Karanja HK, Nyamwaya DK, Omuoyo DO, Kamau E, Hamaluba MM, Nyiro JU, Kitsao BS, Nyaguara A, Mwakio S, Newton CR, Sang R, Wright D, Sanders EJ, Seale AC, Agoti CN, Berkley JA, Bejon P, Warimwe GM.   +19 more
europepmc   +4 more sources

Association between suspected Zika virus disease during pregnancy and giving birth to a newborn with congenital microcephaly: a matched case–control study [PDF]

BMC Research Notes, 2017
Objective In early 2015, an outbreak of an acute exanthematous illness with dengue-like symptoms occurred in northeastern Brazil. By the end of the same year, an unexpected increase in the number of cases of microcephaly was observed in the region.
Ticiane Henriques Santa Rita, Renata Barcelos Barra, Gisele Pasquali Peixoto, Pedro Goes Mesquita, Gustavo Barcelos Barra   +4 more
doaj   +2 more sources

Epidemiological Surveillance of Genetically Determined Microcephaly in Latin America: A Narrative Review [PDF]

Epidemiologia
Background/Objectives: Congenital microcephaly is a clinical manifestation with a heterogeneous etiology, and its epidemiological surveillance relies on the systematic identification of cases and investigation of their underlying causes to inform ...
Melissa Daniella Gonzalez-Fernandez, Karina Jiménez-Gil, Linda Garcés-Ramírez, Alejandro Martínez-Juárez, Elsa Romelia Moreno-Verduzco, Juan Mario Solís-Paredes, Javier Pérez-Durán, Johnatan Torres-Torres, Irma Eloisa Monroy-Muñoz   +8 more
doaj   +2 more sources