[PDF] Top 20 Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population
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Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population
... is the most common genetic disorder occurring in individuals of northern European ...descent. The clinical characteristic of this disease is the gradual accumulation of iron in internal ... See full document
3
HFE gene mutations in Brazilian
... (17,18). The thalassemias are a heterogeneous group of hereditary alter- ations caused by defects in the synthesis of one or more of hemoglobin’s polypeptide chains, which modify the normal ... See full document
6
Association of Haplotypes in the CXCR2 Gene with Periodontitis in a Brazilian Population
... to the expected number of heterozygotes for all SNPs may explain why Hardy– Weinberg equilibrium of the genotype distributions in our study was not ...of the indi- viduals were genotyped for ... See full document
11
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region
... that the prevalence of null mutations in our sample is one of the highest ever reported (30%), higher than the frequencies reported for Brazilian patients from the ... See full document
6
High frequency of the CCR5delta32 variant among individuals from an admixed Brazilian population with sickle cell anemia
... and the de- gree of admixture in the groups analyzed, the first explanation is rather ...that the CCR5D32 allele is present in African Brazilian populations due to ... See full document
5
BRCA1 mutations in Brazilian patients
... listed in Table ...unrelated. The mean age for first breast tumor diagnosis was 46 years, ranging from 23 to 76, and for the second breast tumor it was ...cancer, the mean age of diagnosis was ... See full document
5
Arq. NeuroPsiquiatr. vol.71 número8
... analyzes the mutations of the ATP7B gene in a WD population from southern ...diferent mutations were found, relecting the genetic heterogeneity of ...mutation ... See full document
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Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies
... First, the C282Y polymorphism was added, and a larger sample size was used to estimate its effect in the ...To the best of our knowledge, no previous meta-analysis has explored the role ... See full document
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Braz. Dent. J. vol.26 número6
... evaluate the association of the polymorphisms in TCN2 (rs1801198) gene and in MTRR (rs1801394) gene with nonsyndromic cleft lip and/or palate (NSCL/P) in a ... See full document
5
J. Bras. Patol. Med. Lab. vol.46 número6
... c-Kit gene mutations in ...alterations in melanomas of South-American patients are ...identify the incidence of BRAF and c-Kit gene mutations in primary cutaneous ... See full document
7
Estrogen receptor 1 gene polymorphisms and coronary artery disease in the Brazilian population
... studied in the ESR1 gene, two in the first intron IVS1-397T>C (rs2234693) and IVS1-351A>G (rs9340799), and a silent mutation in exon 1, +261G>C ...with the ... See full document
8
Haptoglobin gene subtypes in three Brazilian population groups of different ethnicities
... of the genetic markers used to describe the genetic constitution of popula- ...on the haptoglobin gene subtypes in the general Brazilian population, although sev- ... See full document
6
Arq. NeuroPsiquiatr. vol.71 número8
... of the Federal University of Paraná, in Curitiba, Brazil. In 23 subjects, mutations in the ATP7B gene were ...distinct mutations were de- tected in at least ... See full document
2
Clinics vol.62 número4
... ratios, in addition to clinical and preventive implica- tions, should be weighed as part of patient ...counseling. The currently recommended screening panels of mutations in the CFTR ... See full document
6
Clinical Phenotypes and ABCC6 Gene Mutations in Brazilian Families with Pseudoxanthoma Elasticum
... distinct mutations in the ABCC6 gene, have suggested the presence of unique mutations affecting certain ethnic groups with different ancestral backgrounds (5, ...6). In ... See full document
2
Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog.
... of the isoforms (O) of the gene (Figure 4). SNPs in the promoter region of this variant were identified and were fixed in the Dalmatian ...identified in ... See full document
8
Rev. Bras. Hematol. Hemoter. vol.31 número5
... with the formation of free ...of the iron metabolism, in particular those related to HFE gene polymorphisms, lead to tissue iron overload with potential oxidant capacity and lipid ...on ... See full document
1
Presence of new mutations in the TP53 gene in patients with lowrisk syndrome : two case reports
... 77-year-old Brazilian woman was admitted to our service due to refractory ...1). The first bone marrow biopsy (8 June 2011) showed hypo- cellularity, 20% of dyserythropoiesis, abnormal localization of ... See full document
4
Rev. Bras. Hematol. Hemoter. vol.30 número5
... H63D mutations in the HFE gene. In Brazil, reports on HFE gene mutation frequencies are rare, mainly in regards to a representative sample ...determine ... See full document
5
J. Bras. Patol. Med. Lab. vol.52 número1
... by mutations in the HFE gene; it is characterized by the risk of iron ...are the most associated mutations in ...determine the frequency of ... See full document
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