Results 11 to 20 of about 227,365 (300)
A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation
Frontiers in Genetics, 2021 IntroductionFlaviviridae family belongs to the Spondweni serocomplex, which is mainly transmitted by vectors from the Aedes genus. Zika virus (ZIKV) is part of this genus.
Estephania Candelo +10 more
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Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report [PDF]
Iranian Journal of Medical Sciences, 2019 Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in
Estephania Candelo +2 more
doaj +1 more source
BMC Pediatrics, 2020 Background Congenital malformations are described in about 3% of live births and 20% of stillbirths in the industrialized countries. The prevalence of congenital anomalies in developing countries, including Morocco, is not well known at the national ...
K. Forci +5 more
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Preferential associated anomalies in 818 cases of microtia in South america [PDF]
, 2013 The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Castilla, Eduardo Enrique +5 more
core +3 more sources
Journal of Ultrasonography, 2021 Aim of the study: Trisomy 13 is the third most common autosomal trisomy. The following case report shows an atypical case of trisomy 13, highlighting the usefulness of 3D volume storage and reconstruction, and the necessity of careful interpretation of ...
Szymkiewicz-Dangel Joanna +1 more
doaj +1 more source
Pattern and Factors Associated with Congenital Anomalies among Young Infants Admitted at Bugando Medical Centre, Mwanza, Tanzania. [PDF]
, 2014 Congenital anomalies or birth defects are among the leading causes of infant mortality and morbidity around the world. The impact of congenital anomalies is particularly severe in middle- and low-income countries where health care resources are limited ...
Chalya, Phillipo L +4 more
core +1 more source
Maternal age and congenital anomalies: 11 years of the national registry of congenital anomalies [PDF]
, 2015 Background: Congenital anomalies (CA) can be defined as structural or functional anomalies that occur during pregnancy and can be identified prenatally, at birth or later in life.
Braz, Paula +2 more
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Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources
Environment International, 2020 Background: Few studies have investigated congenital anomalies in relation to municipal waste incinerators (MWIs) and results are inconclusive. Objectives: To conduct a national investigation into the risk of congenital anomalies in babies born to ...
Brandon Parkes +11 more
doaj +1 more source
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study
Frontiers in Pharmacology, 2022 Background: Orphan drugs are used for the diagnosis, prevention and treatment of rare diseases that, in the European Union, are defined as disorders affecting no more than 5 persons in 10,000.
Francesca Gorini +23 more
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