Catherine Boileau

Summary

Country: France

Publications

  1. ncbi request reprint TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
    Catherine Boileau
    Institut National de la Santé et de la Recherche Médicale INSERM U698, Hopital Bichat, Paris, France
    Nat Genet 44:916-21. 2012
  2. doi request reprint Aortic event rate in the Marfan population: a cohort study
    Guillaume Jondeau
    Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, 75018 Paris, France
    Circulation 125:226-32. 2012
  3. ncbi request reprint Association study of B-cell marker gene polymorphisms in European Caucasian patients with systemic sclerosis
    Karen Dawidowicz
    Universite Paris Diderot, Hopital Bichat Claude Bernard, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Clin Exp Rheumatol 29:839-42. 2011
  4. doi request reprint Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity
    Philippe Dieude
    Service de Rhumatologie, Hopital Bichat Claude Bernard, APHP, Université Diderot Paris 7, Paris, France
    J Rheumatol 37:987-92. 2010
  5. doi request reprint A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis
    Eugénie Koumakis
    INSERM, Institut Cochin, Cochin Hospital, AP HP, Inserm U1016, Sorbonne Paris Cité, and Paris Descartes University, Paris, France
    Arthritis Rheum 65:3202-8. 2013
  6. doi request reprint TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients
    Eugénie Koumakis
    Paris Descartes University, Inserm U1016, Institut Cochin, Sorbonne Paris Cité, Paris, France
    Ann Rheum Dis 71:1900-3. 2012
  7. pmc Molecular spectrum of autosomal dominant hypercholesterolemia in France
    Marie Marduel
    Institut National de la Sante et de la Recherche Medicale, U781, 75015, Paris, France 2 Université Paris Descartes, 75006, Paris, France
    Hum Mutat 31:E1811-24. 2010
  8. doi request reprint C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis
    Baptiste Coustet
    Inserm U1016, Universite Paris Descartes, Paris, France
    Arthritis Rheum 63:2091-6. 2011
  9. ncbi request reprint Association study of 3 rheumatoid arthritis risk loci in systemic sclerosis in European Caucasian population
    Baptiste Coustet
    Inserm U1016, Universite Paris Descartes, Hopital Cochin, Paris, France
    Clin Exp Rheumatol 29:S6-9. 2011
  10. pmc Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts
    Baptiste Coustet
    Universite Paris Descartes, Rhumatologie A, Hopital Cochin, APHP, Paris, France
    J Rheumatol 38:1033-8. 2011

Detail Information

Publications36

  1. ncbi request reprint TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
    Catherine Boileau
    Institut National de la Santé et de la Recherche Médicale INSERM U698, Hopital Bichat, Paris, France
    Nat Genet 44:916-21. 2012
    ....
  2. doi request reprint Aortic event rate in the Marfan population: a cohort study
    Guillaume Jondeau
    Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, 75018 Paris, France
    Circulation 125:226-32. 2012
    ..Optimal management, including timing of surgery, remains debated in Marfan syndrome because of a lack of data on aortic risk associated with this disease...
  3. ncbi request reprint Association study of B-cell marker gene polymorphisms in European Caucasian patients with systemic sclerosis
    Karen Dawidowicz
    Universite Paris Diderot, Hopital Bichat Claude Bernard, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Clin Exp Rheumatol 29:839-42. 2011
    ..BANK1 and BLK B-cell genetic markers have been reproducibly and convincingly found to contribute to susceptibility to systemic sclerosis (SSc)...
  4. doi request reprint Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity
    Philippe Dieude
    Service de Rhumatologie, Hopital Bichat Claude Bernard, APHP, Université Diderot Paris 7, Paris, France
    J Rheumatol 37:987-92. 2010
    ..Our aim was to investigate whether IRF5 haplotypes confer susceptibility to SSc, and to perform genotype haplotype-phenotype correlation analyses...
  5. doi request reprint A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis
    Eugénie Koumakis
    INSERM, Institut Cochin, Cochin Hospital, AP HP, Inserm U1016, Sorbonne Paris Cité, and Paris Descartes University, Paris, France
    Arthritis Rheum 65:3202-8. 2013
    ..The present study was thus undertaken to investigate whether CCR6 polymorphisms could also be associated with susceptibility to SSc...
  6. doi request reprint TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients
    Eugénie Koumakis
    Paris Descartes University, Inserm U1016, Institut Cochin, Sorbonne Paris Cité, Paris, France
    Ann Rheum Dis 71:1900-3. 2012
    ..Mutations of transforming growth factor beta (TGFβ) receptor genes strongly contribute to idiopathic and familial PAH...
  7. pmc Molecular spectrum of autosomal dominant hypercholesterolemia in France
    Marie Marduel
    Institut National de la Sante et de la Recherche Medicale, U781, 75015, Paris, France 2 Université Paris Descartes, 75006, Paris, France
    Hum Mutat 31:E1811-24. 2010
    ..9%, APOB 6.6%, PCSK9 0.7%. Finally, in 19.0% of the probands,no mutation was found, thus underscoring the existence of ADH mutations located in still unknown genes...
  8. doi request reprint C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis
    Baptiste Coustet
    Inserm U1016, Universite Paris Descartes, Paris, France
    Arthritis Rheum 63:2091-6. 2011
    ....
  9. ncbi request reprint Association study of 3 rheumatoid arthritis risk loci in systemic sclerosis in European Caucasian population
    Baptiste Coustet
    Inserm U1016, Universite Paris Descartes, Hopital Cochin, Paris, France
    Clin Exp Rheumatol 29:S6-9. 2011
    ..Systemic sclerosis (SSc) belongs to connective tissue disorders and recent data have highlighted strong associations with some autoimmunity genes shared with other autoimmune diseases...
  10. pmc Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts
    Baptiste Coustet
    Universite Paris Descartes, Rhumatologie A, Hopital Cochin, APHP, Paris, France
    J Rheumatol 38:1033-8. 2011
    ..To determine whether novel risk loci associated with systemic lupus erythematosus or multiple sclerosis may confer susceptibility to SSc, we tested single-nucleotide polymorphisms (SNP) from ITGAM, ITGAX, and CD58 for associations...
  11. doi request reprint Angiogenic biomarkers predict the occurrence of digital ulcers in systemic sclerosis
    Jerome Avouac
    Rheumatology A Department, Paris Descartes University, Cochin Hospital, APHP, Sorbonne Paris Cité, Paris, France
    Ann Rheum Dis 71:394-9. 2012
    ..To evaluate the possible merit of endothelial markers for the prediction of ischaemic digital ulcers in patients with systemic sclerosis (SSc)...
  12. doi request reprint Cardiovascular manifestations in men and women carrying a FBN1 mutation
    Delphine Detaint
    AP HP, Hopital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F 75018, France
    Eur Heart J 31:2223-9. 2010
    ..This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation...
  13. doi request reprint Surgical management of patients with Marfan syndrome: evolution throughout the years
    Alireza Samadi
    Service de cardiologie, Centre de référence pour les syndromes de Marfan et apparentés, Hopital Bichat, Paris, France
    Arch Cardiovasc Dis 105:84-90. 2012
    ..To evaluate the evolution of surgical management in a large population of patients with Marfan syndrome...
  14. doi request reprint Association study of CRP gene in systemic sclerosis in European Caucasian population
    Julien Wipff
    Rhumatologie A, APHP, Hopital Cochin, Universite Paris Descartes, 27 rue du Faubourg St Jacques, 75014, Paris, France
    Rheumatol Int 34:389-92. 2014
    ..These results obtained through a large cohort of European Caucasian SSc patients do not support the implication of CRP gene in the pathogenesis of SSc. ..
  15. pmc Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation
    Marie Marduel
    INSERM U698, Paris, France
    Hum Mutat 34:83-7. 2013
    ..Our results show that mutations in the APOE gene can be associated with bona fide ADH...
  16. doi request reprint Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity
    Eugénie Koumakis
    Paris Descartes University, Inserm U1016, Institut Cochin, and Cochin Hospital, AP HP, Paris, France
    Arthritis Rheum 64:2746-52. 2012
    ..The present study was undertaken to investigate whether rare variants of TNFAIP3 and TREX1 are also associated with SSc...
  17. doi request reprint Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
    David Attias
    Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris, France
    Circulation 120:2541-9. 2009
    ..TGFBR2 mutations were recognized recently among patients with a Marfan-like phenotype. The associated clinical and prognostic spectra remain unclear...
  18. doi request reprint The translational science of Marfan syndrome
    Guillaume Jondeau
    Centre National de Référence pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris 75018, France
    Heart 97:1206-14. 2011
    ..Here we review some of the new data obtained in the understanding of the pathophysiology and genetics of this disease...
  19. pmc Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
    Carine Le Goff
    Department of Genetics, Universite Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 89:7-14. 2011
    ..Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes...
  20. doi request reprint Dissection in Marfan syndrome: the importance of the descending aorta
    Lea Mimoun
    Service de cardiologie, Centre de référence pour les syndromes de Marfan et apparentés, Hopital Bichat, AP HP, Paris, France
    Eur Heart J 32:443-9. 2011
    ..Up until now, this portion of the aorta has not been well studied but is gaining importance due to improved patient survival...
  21. pmc A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1
    Alice Marques-Pinheiro
    INSERM U781, Universite Paris Descartes, Paris, France
    Eur J Hum Genet 18:1236-42. 2010
    ..Finally, our results also show the existence of other ADH genes as nine families were neither linked to LDLR, APOB, and PCSK9 genes nor to the new HCHOLA4 locus...
  22. pmc Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis
    Baptiste Coustet
    Universite Paris Descartes, Rhumatologie A, Inserm U1016, Hopital Cochin, APHP, Paris, France
    J Rheumatol 39:997-1003. 2012
    ..Our objective was to validate TNFSF4 association with SSc and determine the subset with the higher risk...
  23. doi request reprint The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene
    Marianne Abifadel
    INSERM, U781, Paris, France
    Hum Mutat 30:E682-91. 2009
    ..Thus, by studying for the first time the impact of PCSK9 polymorphism on LDL-cholesterol levels of FH patients carrying a same LDLR mutation, we show that PCSK9 might constitute a modifier gene in familial hypercholesterolemia...
  24. doi request reprint Genetics of thoracic aortic aneurysms
    Guillaume Jondeau
    AP HP, Centre de Référence National pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris, France
    Curr Atheroscler Rep 14:219-26. 2012
    ..The following is a review of the phenotypes associated with the different mutations and the clinical consequences of this recent information...
  25. doi request reprint Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome
    Delphine Detaint
    Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, Paris, France
    Arch Cardiovasc Dis 103:317-25. 2010
    ....
  26. doi request reprint Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition
    Chantal Stheneur
    1 AP HP, Hopital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France 2 AP HP, Hopital Ambroise Pare, Service de Pediatrie, Boulogne, France
    Genet Med 16:246-50. 2014
    ..Because diagnosis of Marfan syndrome is difficult during infancy, we used a large cohort of children to describe the evolution of the Marfan syndrome phenotype with age...
  27. pmc Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)
    Amandine Georges
    INSERM U781, Universite Paris Descartes, Hopital Necker Enfants Malades, Paris, 75015, France
    Orphanet J Rare Dis 6:1. 2011
    ....
  28. doi request reprint Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome
    Alice Marques-Pinheiro
    INSERM U781, Paris Descartes University, Necker Hospital, Paris, France
    Joint Bone Spine 77:151-3. 2010
    ..Rheumatologists must be aware of LRP5 gene that in addition to being a major gene in the mendelian disease that is OPPG syndrome seems to be involved in osteoporosis in the general population through some of its polymorphisms...
  29. pmc Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis
    Yannick Allanore
    Universite Paris Descartes, Rhumatologie A, INSERM, U1016, Hopital Cochin, APHP, Paris, France
    PLoS Genet 7:e1002091. 2011
    ..The genetic signal of association with TNIP1 variants, together with tissular and cellular investigations, suggests that this pathway has a critical role in regulating autoimmunity and SSc pathogenesis...
  30. doi request reprint Insights into the pathogenesis of systemic sclerosis based on the gene expression profile of progenitor-derived endothelial cells
    Jerome Avouac
    Université Paris Descartes and Hôpital Cochin, AP HP, and INSERM U1016, Cochin Institut, Paris, France
    Arthritis Rheum 63:3552-62. 2011
    ..To determine the gene expression profile of endothelial cells derived from the endothelial progenitor cells (EPCs) of patients with systemic sclerosis (SSc)...
  31. doi request reprint Dermal tissue and cellular expression of fibrillin-1 in diffuse cutaneous systemic sclerosis
    Julien Wipff
    Universite Paris Descartes, Rhumatologie A, Hopital Cochin, AP HP, Paris, France
    Rheumatology (Oxford) 49:657-61. 2010
    ..To assess dermal expression and fibroblast production of fibrillin-1 (FBN-1) in SSc...
  32. ncbi request reprint Early-onset osteoarthritis, charcot-marie-tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition
    Mélodie Aubart
    INSERM U698, Hopital Bichat, Paris, France
    PLoS ONE 9:e96387. 2014
    ..Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined...
  33. doi request reprint Nomograms for aortic root diameters in children using two-dimensional echocardiography
    Mathieu Gautier
    Centre de référence pour le syndrome de Marfan et apparentés, Hopital Bichat, AP HP, Paris, France Service de Cardiologie, Hopital Bichat, AP HP, Paris, France
    Am J Cardiol 105:888-94. 2010
    ....
  34. doi request reprint Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
    Marianne Abifadel
    Institut Nationale de la Santé et de la Recherche Médicale INSERM, U781, Paris, France
    Hum Mutat 30:520-9. 2009
    ..Finally, we present future prospects concerning this therapeutic target that might constitute a new approach to reduce cholesterol levels and CHD, and enhance the effectiveness of other lipid-lowering drugs...
  35. doi request reprint Angiotensin-converting enzyme gene does not contribute to genetic susceptibility to systemic sclerosis in European Caucasians
    Julien Wipff
    Paris Descartes Université, Rhumatologie A, Hopital Cochin, AP HP, Paris, France
    J Rheumatol 36:337-40. 2009
    ..To determine whether angiotensin-converting enzyme (ACE) polymorphisms including I/D and 2 single-nucleotide polymorphisms (SNP) affect susceptibility to systemic sclerosis (SSc) in a large French Caucasian population...
  36. doi request reprint Maternal complication of pregnancy in Marfan syndrome
    Laure Pacini
    Centre de Référence National Syndrome de Marfan et Apparentés, Hopital Bichat, AP HP, faculté Paris 7, 75018 Paris, France
    Int J Cardiol 136:156-61. 2009
    ..Evaluate the risk of aortic complications (aortic dissection or prophylactic aortic surgical replacement) associated with pregnancy in Marfan syndrome in the absence of specific care...