Konu "Phenotype" için PubMed İndeksli Yayın Koleksiyonu listeleme
Toplam kayıt 6, listelenen: 1-6
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Disease characteristics of psoriatic arthritis patients may differ according to age at psoriasis onset: cross-sectional data from the Psoriatic Arthritis-International Database
(Clinical & Exper Rheumatology, 2021)Objective To explore the impact of early versus late-onset psoriasis (PsO) on the disease characteristics of psoriatic arthritis (PsA) in a large-multicentre cohort. Methods The data from a multicentre psoriatic arthritis ... -
Effect of HER2 and Fascin expression on muscle-invasive bladder cancers: Classification by basaloid and luminal phenotypes
(NLM (Medline), 2022)Purpose: The present study aims to identify basaloid and luminal molecular groups and the p53-like sub-group, which is a sub-group of the luminal group, using a specific immunohistochemical panel and investigate human ... -
Frailty prevalence and related factors in the older adult-FrailTURK Project
(Springer, 2015)Frailty is one of the geriatric syndromes and has an important relationship with mortality and morbidity. The aim of this study is to present the characteristics, prevalence, and related factors of frailty in older adults ... -
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
(Nature Publishing Group, 2016)Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused ... -
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
(Amer Soc Clinical Investigation Inc, 2016)BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described ... -
A Novel Mutation in the Promoter Region of the -Globin Gene: HBB: c.-127G > C
(Taylor & Francis Ltd, 2016)Novel -globin gene mutations are still occasionally being reported, especially when evaluating milder phenotypes. We report here a novel putative mutation in the promoter region of the -globin gene and assess its clinical ...