Docteur SANDRA LASBLEIZ

Bibliographie

• Mutations of the Cystic Fibrosis Gene in Patients with Bronchiectasis Associated with Rheumatoid Arthritis

  2011

  ArticleAnnals of the Rheumatic Diseases

• Transcriptome Analysis Describing New Immunity and Defense Genes in Peripheral Blood Mononuclear Cells of Rheumatoid Arthritis Patients

  2009

  ArticlePLoS ONE

• Prevalence and distribution of autoimmune diseases in 368 rheumatoid arthritis families.

  2008

  ArticleJournal of Rheumatology

• Genetic and Expression Analysis of CASP7 Gene in a European Caucasian Population with Rheumatoid Arthritis

  2008

  ArticleJournal of Rheumatology

• Lack of Linkage and Association of Adrenomedulin and Its Receptor Genes in French Caucasian Rheumatoid Arthritis Trio Families

  2008

  ArticleClinical and experimental rheumatology

• Association and Expression Study of PRKCH Gene in a French Caucasian Population with Rheumatoid Arthritis

  2008

  ArticleJournal of Clinical Immunology

• Linkage Proof for PTPN22, a Rheumatoid Arthritis Susceptibility Gene and a Human Autoimmunity Gene

  2007

  ArticleProceedings of the National Academy of Sciences of the United States of America

• IRF5 Rs2004640-T Allele, the New Genetic Factor for Systemic Lupus Erythematosus, Is Not Associated with Rheumatoid Arthritis

  2007

  ArticleAnnals of the Rheumatic Diseases

Source : HAL — archive ouverte CCSD/CNRS (couvre articles, chapitres EMC, communications congrès, thèses).

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• LES HOPITAUX DE SAINT MAURICE

  12 Rue DU VAL D OSNE, 94410 Saint-Maurice

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Top publications · les plus citées

• 1

  New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study

  Proceedings of the National Academy of Sciences of the United States of America · 1998

  📚 397 citations🎯 RCR 8.60Top 3% NIH🔓 Open Access

  Lire l'abstract Crossref ↓

  Rheumatoid arthritis (RA), the most common autoimmune disease, is associated in families with other autoimmune diseases, including insulin-dependent diabetes mellitus (IDDM). Its genetic component has been suggested by familial aggregation (λs = 5), twin studies, and segregation analysis. HLA , which is the only susceptibility locus known, has been estimated to account for one-third of this component. The aim of this paper was to identify new RA loci. A genome scan was performed with 114 European Caucasian RA sib pairs from 97 nuclear families. Linkage was significant only for HLA ( P < 2.5⋅10 −5 ) and nominal for 19 markers in 14 other regions ( P < 0.05). Four of the loci implicated in IDDM potentially overlap with these regions: the putative IDDM6, IDDM9, IDDM13 , and DXS998 loci. The first two of these candidate regions, defined in the RA genome scan by the markers D18S68-D18S61-D18S469 (18q22–23) and D3S1267 (3q13), respectively, were studied in 194 additional RA sib pairs from 164 nuclear families. Support for linkage to chromosome 3 only was extended significantly ( P = 0.002). The analysis of all 261 families provided a linkage evidence of P = 0.001 and suggested an interaction between this putative RA locus and HLA . This locus could account for 16% of the genetic component of RA. Candidate genes include those coding for CD80 and CD86, molecules involved in antigen-specific T cell recognition. In conclusion, this first genome scan in RA Caucasian families revealed 14 candidate regions, one of which was supported further by the study of a second set of families.

• 2

  New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility

  Arthritis and rheumatism · 2005

  📚 146 citations🎯 RCR 3.41Top 14% NIH

  Lire l'abstract Crossref ↓

  AbstractObjectiveThe shared epitope hypothesis was formulated to explain the involvement of HLA–DRB1 in rheumatoid arthritis (RA). However, several studies, which considered only the HLA–DRB1 alleles shown to be associated with RA risk, rejected this hypothesis. In this report, we propose that a different classification of HLA–DRB1 alleles be considered, based on the amino acid sequence at position 70–74.MethodsThe fit of both HLA–DRB1 classifications was tested in 2 groups of RA patients. All subjects were recruited through the European Consortium on Rheumatoid Arthritis Families, and included 100 patients with isolated RA and 132 patients with at least 1 affected sibling.ResultsThe new classification produced risk estimates that fit all of the observed data, i.e., the distribution of the HLA–DRB1 genotype in the 2 patient groups, and the distribution of parental alleles shared by affected sibpairs. The risk of developing RA under this new classification depends on whether the RAA sequence occupies position 72–74 but is modulated by the amino acid at position 71 (K confers the highest risk, R an intermediate risk, A and E a lower risk) and by the amino acid at position 70 (Q or R confers a higher risk than D).ConclusionA new classification based on amino acid sequence allows us to show that the shared epitope RAA sequence at position 72–74 explains the data, with the risk of developing RA modulated by the amino acids at positions 70 and 71.

• 3

  Unité Rhumatologique des Affections de la Main (URAM) scale: development and validation of a tool to assess Dupuytren's disease-specific disability

  Arthritis care & research · 2011

  📚 89 citations🎯 RCR 5.24Top 7% NIH

  Lire l'abstract Crossref ↓

  AbstractObjectiveTo our knowledge, no functional outcome measure has been developed and validated for Dupuytren's disease. We aimed to develop and validate a patient‐reported functional outcome measure for Dupuytren's disease.MethodsPatients with Dupuytren's disease (n = 9) and medical experts (n = 7) provided input and opinions about limiting activities that were difficult to perform because of Dupuytren's disease for item generation. The provisional scale was studied in an independent sample of patients (n = 85) for item reduction according to response distribution, reliability, redundancy, and loading in a 1‐factor solution. The final scale was evaluated as follows: reliability using Cronbach's alpha coefficient and test–retest intraclass correlation coefficient from the previous 85‐patient population, and construct validity and responsiveness after needle aponeurotomy in another independent 53‐patient sample. For construct validity, convergent validity and divergent validity were tested. The clinically important change was estimated relative to a 1‐point categorical change on the Tubiana scale.ResultsA 52‐item provisional scale was generated and reduced to the final 9‐item scale called the Unité Rhumatologique des Affections de la Main (URAM) scale (total score 0–45). The scale showed good to excellent reliability and suitable construct validity. The URAM score improved after needle aponeurotomy: the standardized effect size was 0.56. The estimated clinically important change of the URAM scale was 2.9 points.ConclusionWe provide the first patient‐reported functional measure for Dupuytren's disease. The URAM scale demonstrated suitable psychometric properties, and is short and convenient enough for easy use in daily practice and in clinical studies.

Publications scientifiques (30) — classées par pathologie

Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).

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