Sfoglia per Soggetto "Pedigree"
Items 1-11 di 11
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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] -
Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia
(2014)A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. ... -
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 ... -
Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?
(1999)The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ... -
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 ... -
Prediction of pedigree relationships in durum wheat varieties based on agronomic, morphological and molecular traits
(2011)For successful crop improvement, genetic diversity among crossed varieties is fundamental. Generally, varieties exhibiting great genetic distances are less related to each other and their original genetic materials may not ... -
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 ... -
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13
(2008)Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...