Πλοήγηση ανά Θέμα "pedigree"
Αποτελέσματα 1-9 από 9
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Association of serum calprotectin (S100A8/A9) concentrations and idiopathic hyperlipidemia in Miniature Schnauzers
(2019)Background: Idiopathic hyperlipidemia (IH) is a common condition in Miniature Schnauzers (MS). Studies in people have linked IH to low-grade inflammation, which plays an important role in the pathogenesis of IH complications. ... -
BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects
(2020)Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ... -
Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?
(2021)[No abstract available] -
Extending the clinical phenotype associated with biallelic NTHL1 germline mutations
(2018)[No abstract available] -
Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
(2021)Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ... -
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis
(2019)Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive presenile dementia and bone cysts, caused by variants in either TYROBP or TREM2. Despite the well-researched role of TREM2 and ... -
Plasminogen glycoforms alteration and activation susceptibility associated with the missense variant p.Lys330Glu in HAE-PLG patients
(2020)[No abstract available] -
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
(2014)Neurodegenerative diseases affecting the macula constitute amajor cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial lateonset ... -
SORL1 mutation in a Greek family with Parkinson's disease and dementia
(2021)Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia ...