A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome [PDF]
Advances in Laboratory MedicineTo establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may ...
Gutiérrez Romero Estrella +2 more
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Heterozigose para mutação no gene CYP21A2 considerada como deficiência de 21-hidroxilase na triagem neonatal [PDF]
Arquivos Brasileiros de Endocrinologia & Metabologia, 2008 Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm ...
Bernardi, Renan Darin +7 more
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CLN5 in heterozygosis may protect against the development of tumors in a VHL patient [PDF]
Orphanet Journal of Rare Diseases, 2020 Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60.
Isabel de Rojas-P +5 more
doaj +4 more sources
Prox1-Heterozygosis Sensitizes the Pancreas to Oncogenic Kras-Induced Neoplastic Transformation
Neoplasia: An International Journal for Oncology Research, 2016 The current paradigm of pancreatic neoplastic transformation proposes an initial step whereby acinar cells convert into acinar-to-ductal metaplasias, followed by progression of these lesions into neoplasias under sustained oncogenic activity and ...
Yiannis Drosos +10 more
doaj +3 more sources
Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report [PDF]
BiomedicinesThe glycosylphosphatidylinositol (GPI) is a glycol–lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and ...
Francesco Dellepiane +8 more
doaj +2 more sources
Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles [PDF]
ChildrenGJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants.
Leonardo Franz +11 more
doaj +2 more sources
Heterozygosis for hemoglobin Porto Alegre identified by a combination of laboratory diagnostic methodologies [PDF]
Revista Brasileira de Hematologia e Hemoterapia, 2012 Hemoglobin (Hb) Porto Alegre is a beta globin chain mutant [beta 9 (A6) Ser>Cys] that was initially described in a Caucasian Brazilian family in 1963(1). It was subsequentlyidentified in other families in Brazil and in other places such as Cuba and the Canary Islands.
Marcos José Cataldo +2 more
doaj +5 more sources
Vaccines, 2021 This paper aims at retrospectively re-analyzing the different distribution, between males and females, in the allelic frequency of the human β T cell receptor (TCR β) single nucleotide polymorphism (SNPs) rs1800907 in Caucasian patients in the Milan ...
Elena M. Varoni +6 more
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Horticulturae, 2022 The quantitative study of genetic diversity requires tools to describe quantitatively and in parallel the whole phenotypic diversity in order to produce meaningful comparisons.
Diego Rivera +3 more
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New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
European Journal of Case Reports in Internal Medicine, 2022 We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene.
Marcus Villander Barros de Oliveira Sá +5 more
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