An update on the genetics of ocular coloboma
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-02019-3
Abstract: Ocular coloboma is an uncommon, but often severe, sight-threatening condition that can be identified from birth. This congenital anomaly is thought to be caused by maldevelopment of optic fissure closure during early eye morphogenesis. It… read more here.
Keywords: genetics ocular; medicine; genetics; coloboma ... See more keywords
Update on the Genetics of Dystonia
Sign Up to like & getrecommendations! Published in 2017 at "Current Neurology and Neuroscience Reports"
DOI: 10.1007/s11910-017-0735-0
Abstract: Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of dystonia has rapidly grown in recent years, which led to the discovery of a number of novel dystonia genes and the… read more here.
Keywords: dystonia genes; neurology; genetics dystonia; genetics ... See more keywords
Update on the Genetics of Congenital Myopathies.
Sign Up to like & getrecommendations! Published in 2019 at "Seminars in pediatric neurology"
DOI: 10.1016/j.spen.2019.01.005
Abstract: The congenital myopathies form a large clinically and genetically heterogeneous group of disorders. Currently mutations in at least 27 different genes have been reported to cause a congenital myopathy, but the number is expected to… read more here.
Keywords: phenotype; congenital myopathies; genetics congenital; genetics ... See more keywords
Update on genetics of amyotrophic lateral sclerosis
Sign Up to like & getrecommendations! Published in 2022 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000001093
Abstract: Purpose of review ALS genetics are highly dynamic and of great interest for the ALS research community. Each year, by using ever-growing datasets and cutting-edge methodology, an array of novel ALS-associated genes and downstream pathomechanisms… read more here.
Keywords: genetics amyotrophic; genetics; methodology; lateral sclerosis ... See more keywords
Chorea: An Update on Genetics
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DOI: 10.1159/000526237
Abstract: Background: Chorea may be present in a number of diseases including hereditary disorders. Major advances have occurred in our understanding of the genetic background of those disorders, and the present short review aims at highlighting… read more here.
Keywords: chorea update; neurology; genetic background; update genetics ... See more keywords
Update on Genetics of Primary Aldosteronism
Sign Up to like & getrecommendations! Published in 2021 at "Biomedicines"
DOI: 10.3390/biomedicines9040409
Abstract: Primary aldosteronism (PA) is the most common form of secondary hypertension, with a prevalence of 5–10% among patients with hypertension. PA is mainly classified into two subtypes: aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism. Recent… read more here.
Keywords: update genetics; genetics; genetics primary; primary aldosteronism ... See more keywords
Update on the genetics of corneal endothelial dystrophies
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_992_22
Abstract: Corneal endothelial dystrophies are a heterogeneous group of diseases with different modes of inheritance and genetic basis for each dystrophy. The genes associated with these diseases encode transcription factors, structural components of the stroma and… read more here.
Keywords: dystrophy; corneal endothelial; genetics corneal; update genetics ... See more keywords
Update in Genetics and Surgical Management of Primary Congenital Glaucoma
Sign Up to like & getrecommendations! Published in 2019 at "Turkish Journal of Ophthalmology"
DOI: 10.4274/tjo.galenos.2019.28828
Abstract: Primary congenital glaucoma (PCG) continues to be an important cause of visual impairment in children despite advances in medical and surgical treatment options. The progressive and blinding nature of the disease, together with the long… read more here.
Keywords: genetics surgical; genetics; congenital glaucoma; primary congenital ... See more keywords