Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA psychiatry"
DOI: 10.1001/jamapsychiatry.2022.1450
Abstract: Importance Rare genetic disorders modulating gene expression-as exemplified by gene dosage disorders (GDDs)-represent a collectively common set of high-risk factors for neuropsychiatric illness. Research on GDDs is rapidly expanding because these variants have high effect… read more here.
Keywords: genetic disorders; convergence divergence; brain; rare genetic ... See more keywords
Genetic variants associated with diseases in Afghan population
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1608
Abstract: Afghanistan is a landlocked country, held a strategic position in Central Asia maintains its importance with approximately 32.9 million in 2017 (NISA, 2019). Over the years, instability in Afghanistan due to ongoing wars and regional… read more here.
Keywords: medicine; afghan population; prevalence; genetic disorders ... See more keywords
Maternal genetic disorders and fetal development
Sign Up to like & getrecommendations! Published in 2020 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5659
Abstract: With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. While pregnancy can have a significant impact on a woman's health when there… read more here.
Keywords: genetic disorders; maternal genetic; fetal development; disorders fetal ... See more keywords
Coexistence of cystic fibrosis with other genetic disorders: A case series
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26182
Abstract: Cystic fibrosis (CF) is a multisystemic autosomal recessive disease caused by a defect in the expression of CFTR protein. This article is protected by copyright. All rights reserved. read more here.
Keywords: genetic disorders; fibrosis genetic; coexistence cystic; fibrosis ... See more keywords
The Impact of Syndromic Genetic Disorders on Medical Management and Mortality in Pediatric Hypertrophic Cardiomyopathy Patients
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Cardiology"
DOI: 10.1007/s00246-020-02373-4
Abstract: Hypertrophic cardiomyopathy (HCM) is a prevalent cardiomyopathy in children, with variable etiologies, phenotypes, and associated syndromic genetic disorders (GD). The spectrum of evaluation in this heterogeneous population has not been well described. We aimed to… read more here.
Keywords: syndromic genetic; hypertrophic cardiomyopathy; mortality; genetic disorders ... See more keywords
Genetic disorders of sex development in cats: An update.
Sign Up to like & getrecommendations! Published in 2020 at "Animal reproduction science"
DOI: 10.1016/j.anireprosci.2020.106353
Abstract: Disorders of sex development (DSD) are rarely reported in cats, but this does not mean these occurrences are an insignificant reproductive and health problem in this species. The DSD condition affects reproduction and can be… read more here.
Keywords: sex development; sex; disorders sex; genetic disorders ... See more keywords
Effects of FKBP12 and type II BMP receptors on signal transduction by ALK2 activating mutations associated with genetic disorders.
Sign Up to like & getrecommendations! Published in 2018 at "Bone"
DOI: 10.1016/j.bone.2018.03.015
Abstract: Various substitution mutations in ALK2, a transmembrane serine/threonine kinase receptor for bone morphogenetic proteins (BMPs), have been identified in patients with genetic disorders such as fibrodysplasia ossificans progressiva (FOP), diffuse intrinsic pontine glioma (DIPG) and… read more here.
Keywords: signal transduction; genetic disorders; transduction alk2; mutations associated ... See more keywords
Before the beginning: the genetic risk of a couple aiming to conceive.
Sign Up to like & getrecommendations! Published in 2019 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2019.08.002
Abstract: Disorders of genetic etiology exist in 2%-3% of live-born infants. Identifying couples with increased susceptibility for offspring with anomalies or genetic disorders is increasingly effective as a result of molecular advances. Preimplantation genetic testing (PGT)… read more here.
Keywords: risk couple; couple aiming; aiming conceive; genetic disorders ... See more keywords
Maternal Genetic Disorders in Pregnancy.
Sign Up to like & getrecommendations! Published in 2018 at "Obstetrics and gynecology clinics of North America"
DOI: 10.1016/j.ogc.2018.01.010
Abstract: The life expectancy and quality of life of women with genetic disorders continues to improve, resulting in more women reaching reproductive age and desiring fertility. It is becoming increasingly important that obstetricians become familiar with… read more here.
Keywords: disorders pregnancy; genetic disorders; maternal genetic; pregnancy ... See more keywords
A framework for the investigation of rare genetic disorders in neuropsychiatry
Sign Up to like & getrecommendations! Published in 2019 at "Nature Medicine"
DOI: 10.1038/s41591-019-0581-5
Abstract: De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs,… read more here.
Keywords: investigation rare; disorders neuropsychiatry; genetic disorders; framework investigation ... See more keywords
Precision genome editing in the eye
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2210104119
Abstract: CRISPR-Cas-based genome editing technologies could, in principle, be used to treat a wide variety of inherited diseases, including genetic disorders of vision. Programmable CRISPR-Cas nucleases are effective tools for gene disruption, but they are poorly… read more here.
Keywords: genome editing; precision genome; genetic disorders; editing eye ... See more keywords