Results 61 to 70 of about 54,392 (259)
, 2019 Microcephaly cases ZIKV laboratory-confirmed by qRT-PCR and/or ZIKV-specific IgM (n = 31), microcephaly cases with negative results by qRT-PCR and/or ZIKV-specific IgM (n = 58) and controls without microcephaly (n = 89).
Marli T. Cordeiro (233672) +12 more
core +1 more source
Congenital Genetic Microcephaly: Clinical Diagnostic Approach
, 2020 Microcephaly is an important neurological sign defined by a cranial circumference < 2 standard deviations or < 3 standard deviations in the severe form compared with age- and gender-matched children.
Falsaperla, Raffaele +4 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa +4 more
wiley +1 more source
Genetic and clinical features of microcephaly in a prenatal cohort
BMC Pregnancy and ChildbirthBackground Fetal microcephaly, defined as a small head circumference in utero or at birth, is a rare but clinically significant condition that may be associated with an increased risk of neurodevelopmental delay and impairment. However, the comprehensive
Yi Zhang +9 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2023 Microcephaly is characterized as a small head circumference, and is often accompanied by developmental disorders. Several candidate risk genes for this disease have been described, and mutations in non-coding regions are occasionally found in patients ...
Mayuri Tokunaga, Takuya Imamura
doaj +1 more source
Systematic Review of Females With Intellectual Disability and MECP2 Duplication
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik +10 more
wiley +1 more source
Research progress of the causal link between Zika virus and microcephaly
Global Health Journal, 2018 Zika virus (ZIKV) was an emergent flavivirus transmitted by Aedes genus mosquitoes and made an explosive outbreak in Latin America in 2015. A few months later, an obvious increase in the number of microcephaly neonates has been observed, which might be ...
Min Yan, Rongsheng Luan
doaj +1 more source
, 2011 Copyright information:Taken from "Absence of mutations in and in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes"http://www.biomedcentral.com/1471-2350/8/48BMC Medical Genetics 2007;8():48-48 ...
Anne Slavotinek (78604) +5 more
core +1 more source
Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer +4 more
wiley +1 more source
Geospatial modeling of microcephaly and zika virus spread patterns in Brazil.
PLoS ONE, 2019 Microcephaly and Zika Virus infection (ZIKV) were declared Public Health Emergencies of International Concern by the World Health Organization in 2016. Brazil was considered the epicenter of the outbreak.
Pedro Amaral +4 more
doaj +1 more source