Lista de obras -

A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.

artículo científico publicado en 2009

A gene expression and pre-mRNA splicing signature that marks the adenoma-adenocarcinoma progression in colorectal cancer.

artículo científico publicado en 2014

A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.

artículo científico publicado en 2015

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

artículo científico publicado en 2020

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

artículo científico publicado en 2009

A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA)

artículo científico publicado en 2012

Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements

artículo científico publicado en 2015

Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

scientific article published on 10 August 2019

Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis

artículo científico publicado en 2014

Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada)

scientific article published on 01 February 2000

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC

artículo científico publicado en 2001

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

artículo científico publicado en 2014

DNA damage-induced down-regulation of human Cdc25C and Cdc2 is mediated by cooperation between p53 and maintenance DNA (cytosine-5) methyltransferase 1.

artículo científico publicado en 2006

Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.

artículo científico publicado en 2017

Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.

artículo científico publicado en 2017

Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.

artículo científico publicado en 2018

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent

scientific article published on 01 May 2008

Establishment of a medium‐throughput approach for the genotyping of RHD variants and report of nine novel rare alleles ⬇️

artículo científico publicado el 11 de diciembre de 2012

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study

artículo científico publicado en 2013

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.

artículo científico publicado en 2015

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

artículo científico publicado en 2010

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

artículo científico publicado en 2019

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

scientific article published on 27 February 2019

GNPATpolymorphism rs11558492 is not associated with increased severity in a large cohort ofHFEp.Cys282Tyr homozygous patients

artículo científico publicado en 2016

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

artículo científico publicado en 2014

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

artículo científico publicado en 2004

HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients

artículo científico publicado en 2015

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype

artículo científico publicado en 2008

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

artículo científico publicado en 2005

Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France

article

Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)

scientific article published on 01 March 2000

Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer.

artículo científico publicado en 2016

Nramp2 analysis in hemochromatosis probands.

artículo científico publicado en 2000

Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation

artículo científico publicado en 2007

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.

artículo científico publicado en 2013

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

artículo científico publicado en 2003

Prevalence and impact of frailty on mortality in elderly ICU patients: a prospective, multicenter, observational study.

artículo científico publicado en 2014

Relation between HFE mutations and mild iron-overload expression

artículo científico publicado en 2000

Relevance of circulating tumor DNA in lung cancer: A case report

artículo científico publicado en 2016

Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.

artículo científico publicado en 2013

The R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

artículo científico publicado en 2018

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

artículo científico publicado en 2024

The molecular genetics of haemochromatosis.

artículo científico publicado en 2005

The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin

artículo científico publicado en 2016

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype

scientific article published on 14 July 2004

Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation

artículo científico publicado en 2004

Lista de obras de

A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.

A gene expression and pre-mRNA splicing signature that marks the adenoma-adenocarcinoma progression in colorectal cancer.

A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA)

Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements

Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis

Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada)

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

DNA damage-induced down-regulation of human Cdc25C and Cdc2 is mediated by cooperation between p53 and maintenance DNA (cytosine-5) methyltransferase 1.

Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.

Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.

Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent

Establishment of a medium‐throughput approach for the genotyping of RHD variants and report of nine novel rare alleles ⬇️

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

GNPATpolymorphism rs11558492 is not associated with increased severity in a large cohort ofHFEp.Cys282Tyr homozygous patients

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France

Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)

Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer.

Nramp2 analysis in hemochromatosis probands.

Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

Prevalence and impact of frailty on mortality in elderly ICU patients: a prospective, multicenter, observational study.

Relation between HFE mutations and mild iron-overload expression

Relevance of circulating tumor DNA in lung cancer: A case report

Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.

The R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

The molecular genetics of haemochromatosis.

The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype

Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation