Lista de obras - C Béroud - Dominio Público Uruguay

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

artículo científico publicado en 2003

A mutation in the Gardos channel is associated with hereditary xerocytosis

artículo científico publicado en 2015

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

article

APC gene: database of germline and somatic mutations in human tumors and cell lines

artículo científico publicado en 1998

Analysis of the DYSF mutational spectrum in a large cohort of patients

artículo científico publicado en 2009

Aortic event rate in the Marfan population: a cohort study

artículo científico publicado en 2011

Assessing TP53 status in human tumours to evaluate clinical outcome

artículo científico publicado en 2001

Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.

artículo científico publicado en 2001

Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

Bioinformatics and mutations leading to exon skipping

artículo científico

Cardiovascular manifestations in men and women carrying a FBN1 mutation

artículo científico publicado en 2010

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

artículo científico publicado en 2009

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

artículo científico publicado en 2008

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

article

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

artículo científico publicado en 2015

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

artículo científico publicado en 2009

Consensus statement on standard of care for congenital muscular dystrophies

artículo científico publicado en 2010

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics

Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.

artículo científico publicado en 1990

Correlations of allelic imbalance of chromosome 14 with adverse prognostic parameters in 148 renal cell carcinomas

artículo científico publicado en 1996

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

artículo científico publicado en 2011

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

artículo científico publicado en 2011

Diagnostic approach to the congenital muscular dystrophies

artículo científico publicado en 2014

Dispelling myths about rare disease registry system development

artículo científico publicado en 2013

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

artículo científico publicado en 2004

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

artículo científico publicado en 2007

Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood

artículo científico publicado en 2002

Genomic variations integrated database forMUTYH-associated adenomatous polyposis

artículo científico publicado en 2014

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

artículo científico publicado en 2009

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

artículo científico publicado en 2004

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein

artículo científico publicado en 2002

High incidence of renal tumours in vitamins A and E synthesis workers: A new cause of occupational cancer?

scientific article published on 01 March 2004

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

artículo científico publicado en 2014

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

artículo científico publicado en 2010

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

artículo científico publicado en 2009

Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units

artículo científico publicado en 2011

Identification of splicing defects caused by mutations in the dysferlin gene

artículo científico

Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer

artículo científico publicado en 2004

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

artículo científico publicado en 2015

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

artículo científico publicado en 2012

Introducing the online version of the gene table for neuromuscular disease (nuclear genes only)

article

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

artículo científico publicado en 2007

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

artículo científico publicado en 2010

Locus-specific mutation databases: pitfalls and good practice based on the p53 experience

scientific article published on 01 January 2006

Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma

artículo científico publicado en 2002

MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer

artículo científico publicado en 2010

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

artículo científico publicado en 2013

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

artículo científico publicado en 1997

Marfan Database (third edition): new mutations and new routines for the software

artículo científico publicado en 1998

Meta-analysis of the p53 Mutation Database for Mutant p53 Biological Activity Reveals a Methodologic Bias in Mutation Detection

article

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

artículo científico publicado en 2010

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

scientific article published on 15 September 2011

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

artículo científico publicado en 2007

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

artículo científico publicado en 2012

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC

artículo científico publicado en 1999

Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements

artículo científico publicado en 2007

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

artículo científico publicado en 2009

Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases

artículo científico publicado en 2013

Polymorphisms of MAMLD1 gene in hypospadias

article

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

artículo científico publicado en 2003

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

article

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

artículo científico publicado en 2014

Rare inherited disorders with renal involvement-approach to the patient

artículo científico

Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides

artículo científico publicado en 2003

Software and database for the analysis of mutations in the VHL gene

artículo científico publicado en 1998

Software and database for the analysis of mutations in the human FBN1 gene

artículo científico publicado en 1996

Software and database for the analysis of mutations in the human WT1 gene

artículo científico publicado en 1998

Surgical management of patients with Marfan syndrome: evolution throughout the years

artículo científico publicado en 2012

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

artículo científico publicado en 2009

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

article

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

artículo científico publicado en 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

artículo científico

The UMD TP53 database and website: update and revisions

scientific article published on 01 January 2006

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations

artículo científico publicado en 2014

The UMD-LDLR database: additions to the software and 490 new entries to the database.

artículo científico publicado en 2002

The UMD-p53 database: new mutations and analysis tools

artículo científico publicado en 2003

The new Ghent criteria for Marfan syndrome: what do they change?

artículo científico publicado en 2011

Transcriptional explorations ofCAPN3identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

artículo científico publicado en 2007

UMD (Universal Mutation Database): 2005 update

artículo científico publicado en 2005

UMD-CFTR: a database dedicated to CF and CFTR-related disorders

artículo científico publicado en 2010

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

artículo científico publicado en 2011

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

artículo científico publicado en 2013

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

artículo científico publicado en 2016

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

artículo científico publicado en 2009

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

artículo científico publicado en 2003

VarioML framework for comprehensive variation data representation and exchange

artículo científico publicado en 2012

p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis

article

p53 gene mutation: software and database

artículo científico publicado en 1998

p53 gene mutation: software and database.

artículo científico publicado en 1996

Lista de obras de C Béroud

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

A mutation in the Gardos channel is associated with hereditary xerocytosis

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

APC gene: database of germline and somatic mutations in human tumors and cell lines

Analysis of the DYSF mutational spectrum in a large cohort of patients

Aortic event rate in the Marfan population: a cohort study

Assessing TP53 status in human tumours to evaluate clinical outcome

Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.

Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines

Bioinformatics and mutations leading to exon skipping

Cardiovascular manifestations in men and women carrying a FBN1 mutation

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

Consensus statement on standard of care for congenital muscular dystrophies

Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics

Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.

Correlations of allelic imbalance of chromosome 14 with adverse prognostic parameters in 148 renal cell carcinomas

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

Diagnostic approach to the congenital muscular dystrophies

Dispelling myths about rare disease registry system development

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood

Genomic variations integrated database forMUTYH-associated adenomatous polyposis

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein

High incidence of renal tumours in vitamins A and E synthesis workers: A new cause of occupational cancer?

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units

Identification of splicing defects caused by mutations in the dysferlin gene

Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Introducing the online version of the gene table for neuromuscular disease (nuclear genes only)

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Locus-specific mutation databases: pitfalls and good practice based on the p53 experience

Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma

MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

Marfan Database (third edition): new mutations and new routines for the software

Meta-analysis of the p53 Mutation Database for Mutant p53 Biological Activity Reveals a Methodologic Bias in Mutation Detection

Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC

Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases

Polymorphisms of MAMLD1 gene in hypospadias

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

Rare inherited disorders with renal involvement-approach to the patient

Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides

Software and database for the analysis of mutations in the VHL gene

Software and database for the analysis of mutations in the human FBN1 gene

Software and database for the analysis of mutations in the human WT1 gene

Surgical management of patients with Marfan syndrome: evolution throughout the years

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

The UMD TP53 database and website: update and revisions

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations

The UMD-LDLR database: additions to the software and 490 new entries to the database.

The UMD-p53 database: new mutations and analysis tools

The new Ghent criteria for Marfan syndrome: what do they change?

Transcriptional explorations ofCAPN3identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

UMD (Universal Mutation Database): 2005 update