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MALADIE DE RENDU-OSLER

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Bibliographie

Publications

  • Mallet C, Lamribet K, Giraud S, Dupuis-Girod S, Feige JJ, Bailly S, Tillet E. Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function. Hum Mol Genet. 2014 Oct 13.

  • Gaillard S, Dupuis-Girod S, Boutitie F, Rivière S, Morinière S, Hatron PY, Manfredi G, Kaminsky P, Capitaine AL, Roy P, Gueyffier F, Plauchu H; The ATERO Study Group. Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease. J Thromb Haemost. 2014 Sep;12(9):1494-502.

  • Kawasaki K, Freimuth J, Meyer DS, Lee MM, Tochimoto-Okamoto A, Benzinou M, Clermont FF, Wu G, Roy R, Letteboer TG, Ploos van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Westermann CJ, Coffey RJ Jr, Akhurst RJ. Genetic variants of Adam17 differentially regulate TGFß signaling to modify vascular pathology in mice and humans. Proc Natl Acad Sci U S A. 2014 May 27;111(21):7723-8.

  • Dupuis-Girod S, Ambrun A, Decullier E, Samson G, Roux A, Fargeton AE, Rioufol C, Schwiertz V, Disant F, Chapuis F, Donazzolo Y, Paintaud G, Edery P, Faure F. ELLIPSE Study: A Phase 1 study evaluating the tolerance of bevacizumab nasal spray in the treatment of epistaxis in hereditary hemorrhagic telangiectasia. MAbs. 2014 Jan 30;6(3).

  • Guilhem A, Malcus C, Clarivet B, Plauchu H, Dupuis-Girod S. Immunological abnormalities associated with hereditary haemorrhagic telangiectasia. J Intern Med. 2013 Jun 14.

  • Ginon I, Decullier E, Finet G, Cordier JF, Marion D, Saurin JC, Dupuis-Girod S. Hereditary hemorrhagic telangiectasia, liver vascular malformations and cardiac consequences. Eur J Intern Med. 2013 Apr;24(3):e35-9.

  • Zufferey F, Sherr EH, Beckmann ND et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct;49(10):660-8.

  • S. Dupuis-Girod, I. Ginon, J-C Saurin, D. Marion, E. Guillot, E. Decullier, A. Roux, M-F Carette, B. Gilbert-Dussardier, P-Y Hatron, P Lacombe, B Lorcerie, S Rivière, R Corre, S Giraud, S Bailly, G Paintaud, D Ternant, P-J Valette, H Plauchu, F Faure. Use of Bevacizumab among patients with hereditary hemorrhagic telangiectasia associated with severe hepatic vascular malformations and high cardiac output. JAMA 2012, 307;9:948-955.

  • Benzinou M, Clermont FF, Letteboer TG, Kim JH, Espejel S, Harradine KA, Arbelaez J, Luu MT, Roy R, Quigley D, Higgins MN, Zaid M, Aouizerat BE, van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Plauchu H, Hughes CC, Westermann CJ, Akhurst RJ. Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia. Nat Commun. 2012, 10;3:616.

  • Vincent Cottin, Chahéra Khouatra, Sophie Dupuis-Girod, Jean-François Cordier. Pulmonary Vascular Disorders in Hereditary Hemorrhagic Telangiectasia.

  • Humbert M, Souza R, Simonneau G (eds): Pulmonary Vascular Disorders. Prog Respir Res. Basel, Karger, 2012, vol 41, pp 1–14. chapter 27.

  • S. Mathis, S. Dupuis-Girod, H. Plauchu, M. Giroud, B. Barroso, K. Heang Ly, P. Ingrand, B. Gilbert, G. Godenèche, JP. Neau. Cerebral abscesses in hereditary haemorrhagic telangiectasia: A clinical and microbiological evaluation. Clin Neurol Neurosurg, 2012;114(3):235-40.

  • G. Samson, A. Garcia de la Calera, S. Dupuis-Girod, F. Faure, E. Decullier, G. Paintaud, C. Vignault, J-Y. Scoazec, C. Pivot, H. Plauchu, F. Pirot. Ex Vivo Study of Bevacizumab Transport through Porcine Nasal Mucosa. Eur J Pharm Biopharm. 2012, 80, 465–469.

  • E. Decullier, S. Dupuis-Girod, H. Plauchu, J. Perret, F. Chapuis. How to improve specific databases for clinical data in rare diseases ? The example of Hereditary hemorrhagic telangiectasia. Journal of Evaluation in Clinical Practice 2012;18(3):523-7

  • S. Bailly, S. Dupuis-Girod, H. Plauchu. Maladie de Rendu-Osler. Dysfonctionnement de la signalisation TGFb dans les cellules endothéliales. Medecine/Sciences 2010;26(10):855-60

  • Dupuis-Girod S, Bailly S, Plauchu H. Hereditary hemorrhagic telangiectasia (HHT): from molecular biology to patient care. J Thromb Haemost. 2010;8(7):1447-56.

  • Dupuis-Girod S, Chesnais AL, Ginon I, Dumortier J, Saurin JC, Finet G, Decullier E, Marion D, Plauchu H, Boillot O. Long-term outcome of patients with hereditary hemorrhagic telangiectasia and severe hepatic involvement after orthotopic liver transplantation: A single-center study. Liver Transpl, 2010;12;16(3):340-347.

  • Grève E, Moussata D, Gaudin JL, Lapalus MG, Giraud S, Dupuis-Girod S, Calender A, Plauchu H, Saurin JE. High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia. Gastrointest Endosc. 2010, 71(4):760-7.

  • G. Brunet, G. Lesca, E. Génin, S. Dupuis-Girod, A. Bideau, H. Plauchu. Thirty Years of Research into Rendu-Osler-Weber Disease in France: Historical Demography, Population Genetics and Molecular Biology. Population-E, 64 (2), 2009, 273-292.

  • Plauchu H, Dupuis-Girod S. Hereditary Hemorrhagic Telangiectasia. Rev Prat, 2009; 20;59(7):899-903.

  • Cottin V, Gamondes D, Schuller A, Coudurier M, Dupuis-Girod S, Tronc F, Cordier JF. Near-fatal haemorrhage from pulmonary arteriovenous malformation in HHT with increased cardiac output. Eur Respir Rev. 2009, 18(113):190-2.

  • A. Poisson, A. Vasdev, F. Brunelle, H. Plauchu, S. Dupuis-Girod.Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia. Eur J Ped, 2009;168:135-139.

  • Gincul R, Lesca G, Gelas-Dore B, Rollin N, Barthelet M, Dupuis-Girod S, Pilleul F, Giraud S, Plauchu H, Saurin JC. Evaluation of previously non screened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. Hepatology. 2008;48(5):1570-1576.

  • David L, Mallet C, Keramidas M, Lamandé N, Gasc JM, Dupuis-Girod S, Plauchu H, Feige JJ, Bailly S. Bone Morphogenetic Protein-9 Is a Circulating Vascular Quiescence Factor. Circ Res. 2008 Feb 28;

  • Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H. Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Eur J Hum Genet. 2008

  • Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). Respiration. 2007;74(4):361-78.

  • Cottin V, Plauchu H, Dupuis-Girod S, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: follow-up and pathophysiologic considerations. J Vasc Interv Radiol. 2007;18(7):938-9.

  • S. Dupuis-Girod, S. Giraud, E.Decullier, G. Lesca, V. Cottin, F. Faure, O. Merrot, JC. Saurin, JF. Cordier, H. Plauchu. Hemorrhagic Hereditary Telangiectasia (Rendu-Osler disease) and infectious diseases: An underestimated association. Clin Infect Dis 2007;44(6):841-5.

  • Buscarini E, Plauchu H, Garcia Tsao G, White RI Jr, Sabbà C, Miller F, Saurin JC, Pelage JP, Lesca G, Marion MJ, Perna A, Faughnan ME. Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations. Liver Int. 2006 Nov;26(9):1040-6.

  • Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S; French Rendu-Osler Network. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Hum Mutat. 2006 Jun;27(6):598.

  • Olivieri C, Lanzarini L, Pagella F, Semino L, Corno S, Valacca C, Plauchu H, Lesca G, Barthelet M, Buscarini E, Danesino C. Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia. Genet Med. 2006 Mar;8(3):183-90.

  • Babin E, Borsik M, Braccard S, Crampette L, Darrouzet V, Faure F, Fontanel JP, Houdart E, Jankowski R, Le Clech G, Malvezzi L, Morinière S, Perie S, Perret J, Pignat JC, Portier F, Serrano E, Plauchu H. [Treatments of hereditary hemorrhagic telangiectasia of the nasal mucosa].[Article in French] Rev Laryngol Otol Rhinol (Bord). 2005;126(1):43-8.

  • Buscarini E, Danesino C, Plauchu H, de Fazio C, Olivieri C, Brambilla G, Menozzi F, Reduzzi L, Blotta P, Gazzaniga P, Pagella F, Grosso M, Pongiglione G, Cappiello J, Zambelli A. High prevalence of hepatic focal nodular hyperplasia in subjects with hereditary hemorrhagic telangiectasia. Ultrasound Med Biol. 2004 Sep;30(9):1089-97.

  • Buscarini E, Danesino C, Olivieri C, Lupinacci G, De Grazia F, Reduzzi L,Blotta P, Gazzaniga P, Pagella F, Grosso M, Pongiglione G, Buscarini L, PlauchuH, Zambelli A. Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia -- results of extensive screening. Ultraschall Med. 2004 Sep;25(5):348-55.

  • Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S,Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A,Giraud S; French Rendu-Osler Network. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004 Apr;23(4):289-99.

  • Cottin V, Plauchu H, Bayle JY, Barthelet M, Revel D, Cordier JF. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med. 2004 May 1;169(9):994-1000. Epub 2004 Jan 23.

  • Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000 Mar 6;91(1):66-7.

  • Saurin JC, Dumortier J, Menard Y, Henry L, Boillot O, Plauchu H, Paliard P. [Hepatic vascular malformations in Rendu-Osler disease].[Article in French] Gastroenterol Clin Biol. 2000 Jan;24(1):89-93.

  • Ziani M, Valignat C, Lopez JG, Ruffion A, Plauchu H, Perrin P. Renal arteriovenous malformation requiring surgery in Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). J Urol. 2000 Oct;164(4):1292-3.

  • Boillot O, Bianco F, Viale JP, Mion F, Mechet I, Gille D, Delaye J, Paliard P, Plauchu H. Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement. Gastroenterology. 1999 Jan;116(1):187-92.

  • Vincent P, Plauchu H, Hazan J, Fauré S, Weissenbach J, Godet J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet. 1995 May;4(5):945-9.

  • Bernard G, Mion F, Henry L, Plauchu H, Paliard P. Hepatic involvement in hereditary hemorrhagic telangiectasia: clinical, radiological, and hemodynamic studies of 11 cases. Gastroenterology. 1993 Aug;105(2):482-7.

  • Bideau A, Brunet G, Heyer E, Plauchu H, Robert JM. An abnormal concentration of cases of Rendu-Osler disease in the Valserine valley of the French Jura: a genealogical and demographic study. Ann Hum Biol. 1992 May-Jun;19(3):233-47.

  • Bideau A, Plauchu H, Brunet G, Robert J. Epidemiological investigation of Rendu-Osler disease in France: its geographical distribution and prevalence. Popul. 1989 Sep;44(1):3-22.

  • Plauchu H, de Chadarévian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in anepidemiologically recruited population. Am J Med Genet. 1989 Mar;32(3):291-7.

  • Bideau A, Plauchu H, Jacquard A, Robert JM, Desjardins B. [Genetic aspects of Rendu-Osler disease in Haut-Jura: convergence of methodological approaches of historic demography and medical genetics]. [Article in French]. J Genet Hum. 1980 Jun;28(2):127-47.


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