Results 1 to 10 of about 22,740 (195)

Genomic and phenotypic delineation of congenital microcephaly [PDF]

Genetics in Medicine, 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.
Ranad Shaheen, Sateesh Maddirevula, Nour Ewida   +2 more
exaly   +7 more sources

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

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

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

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

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 ...
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

Expanding the mutational spectrum of congenital microcephaly in Pakistani families. [PDF]

Front Genet
Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a markedly reduced head circumference (−3 to −5 standard deviations) at birth, with relatively preserved brain architecture.
Farooq S, Asif M, Abbasi AA, Latif Z, Ku B, Makhdoom EUH, Shadab M, Khan MA, Muzammal M, Waqar R, Nisar R, Khan FS, Aslam S, Schweiger MR, Hussain MS.   +14 more
europepmc   +3 more sources

Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil

Jornal De Pediatria, 2019
Objective: The aim of this study was to identify the causes of congenital microcephaly in Rio Grande do Sul, a state in southern Brazil, where no ZIKV outbreak was detected, from December 2015 to December 2016, which was the period when ZIKV infection ...
Maria Teresa Vieira Sanseverino, Ida Vanessa Doederlein Schwartz, Lavinia Schuler‐Faccini   +2 more
exaly   +5 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