The basics of transition in congenital lifelong urology
Sign Up to like & getrecommendations! Published in 2020 at "World Journal of Urology"
DOI: 10.1007/s00345-020-03116-z
Abstract: Purpose Transition in urology is defined by the process that allows an adolescent or a young adult with a congenital or acquired urogenital anomaly to assume increasing responsibility for their own health care and to… read more here.
Keywords: transition; urology basics; congenital; basics transition ... See more keywords
Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2018.12.024
Abstract: Multiminicore disease is a myopathy that is pathologically characterized by the presence of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization lacking mitochondria (minicores) that can be observed in both type… read more here.
Keywords: congenital myopathy; multiminicore disease; congenital muscular; muscular dystrophy ... See more keywords
Congenital Syphilis and the Prozone Phenomenon: A Case Study.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in Neonatal Care"
DOI: 10.1097/anc.0000000000000573
Abstract: BACKGROUND There is a global rise in maternal syphilis and infants born with congenital syphilis. CLINICAL FINDINGS This case report presents a 32-week gestation premature male infant with initial clinical findings significant for respiratory failure… read more here.
Keywords: phenomenon; congenital syphilis; congenital; case study ... See more keywords
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Dermatology"
DOI: 10.1111/ijd.13568
Abstract: Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (ARCIs) quite variably, with certain genes/mutations being… read more here.
Keywords: congenital ichthyoses; congenital; recessive congenital; mutations underlying ... See more keywords
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
Sign Up to like & getrecommendations! Published in 2018 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1007138
Abstract: Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal congenital restrictive cardiomyopathy affecting the right… read more here.
Keywords: congenital; lethal congenital; loss function; two siblings ... See more keywords
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.1030119
Abstract: Reversible protein phosphorylation is a fundamental regulation mechanism in eukaryotic cell and organismal physiology, and in human health and disease. Until recently, and unlike protein kinases, mutations in serine/threonine protein phosphatases (PSP) had not been… read more here.
Keywords: psp; role; development; human development ... See more keywords