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Items: 1 to 50 of 163

1.

Recurrence of Hereditary Hemorrhagic Telangiectasia After Liver Transplantation: Clinical Implications and Physiopathological Insights.

Dumortier J, Dupuis-Girod S, Valette PJ, Valent A, Guillaud O, Saurin JC, Hervieu V, Robinson P, Plauchu H, Paliard P, Boillot O, Scoazec JY.

Hepatology. 2019 May;69(5):2232-2240. doi: 10.1002/hep.30424. Epub 2019 Mar 7.

PMID:
30549294
2.

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C.

Hum Mutat. 2015 Nov;36(11):1070-9. doi: 10.1002/humu.22833. Epub 2015 Aug 6.

3.

Marfan Sartan: a randomized, double-blind, placebo-controlled trial.

Milleron O, Arnoult F, Ropers J, Aegerter P, Detaint D, Delorme G, Attias D, Tubach F, Dupuis-Girod S, Plauchu H, Barthelet M, Sassolas F, Pangaud N, Naudion S, Thomas-Chabaneix J, Dulac Y, Edouard T, Wolf JE, Faivre L, Odent S, Basquin A, Habib G, Collignon P, Boileau C, Jondeau G.

Eur Heart J. 2015 Aug 21;36(32):2160-6. doi: 10.1093/eurheartj/ehv151. Epub 2015 May 2.

PMID:
25935877
4.

Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease.

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; ATERO Study Group.

J Thromb Haemost. 2014 Sep;12(9):1494-502. doi: 10.1111/jth.12654. Epub 2014 Jul 29.

5.

Immunological abnormalities associated with hereditary haemorrhagic telangiectasia.

Guilhem A, Malcus C, Clarivet B, Plauchu H, Dupuis-Girod S.

J Intern Med. 2013 Oct;274(4):351-62. doi: 10.1111/joim.12098. Epub 2013 Jul 4.

6.

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

Coron F, Rousseau T, Jondeau G, Gautier E, Binquet C, Gouya L, Cusin V, Odent S, Dulac Y, Plauchu H, Collignon P, Delrue MA, Leheup B, Joly L, Huet F, Thevenon J, Mace G, Cassini C, Thauvin-Robinet C, Wolf JE, Hanna N, Sagot P, Boileau C, Faivre L.

Prenat Diagn. 2012 Dec;32(13):1318-23. doi: 10.1002/pd.4008. Epub 2012 Nov 13.

PMID:
23147988
7.

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

Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L.

Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25.

8.

[Pregnancy and Ehlers-Danlos vascular syndrome: patients' care and complications].

Dubruc E, Dupuis-Girod S, Khau Van Kien P, Denis-Belicard E, Chirossel C, Fokstuen S, Touraine R, Plauchu H.

J Gynecol Obstet Biol Reprod (Paris). 2013 Apr;42(2):159-65. doi: 10.1016/j.jgyn.2012.08.003. Epub 2012 Oct 2. French.

9.

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, Macdonald MJ, Nas V, Fry AE, Berger W.

Eur J Hum Genet. 2013 Mar;21(3):352-6. doi: 10.1038/ejhg.2012.137. Epub 2012 Jun 27.

10.

Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.

Ong KT, Plauchu H, Peyrol S, Roux E, Errazuriz E, Khau Van Kien P, Arbeille B, Gaulier A, Georgescou G, Collignon P, Germain DP, Gaveau MN, Perdu J, Laurent S, Bruneval P, Boutouyrie P.

Virchows Arch. 2012 Jun;460(6):637-49. doi: 10.1007/s00428-012-1233-z. Epub 2012 May 2.

PMID:
22549280
11.

Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output.

Dupuis-Girod S, Ginon I, Saurin JC, Marion D, Guillot E, Decullier E, Roux A, Carette MF, Gilbert-Dussardier B, Hatron PY, Lacombe P, Lorcerie B, Rivière S, Corre R, Giraud S, Bailly S, Paintaud G, Ternant D, Valette PJ, Plauchu H, Faure F.

JAMA. 2012 Mar 7;307(9):948-55. doi: 10.1001/jama.2012.250.

PMID:
22396517
12.

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.

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.

Nat Commun. 2012 Jan 10;3:616. doi: 10.1038/ncomms1633. Erratum in: Nat Commun. 2012;3:1148.

13.

Ex vivo study of bevacizumab transport through porcine nasal mucosa.

Samson G, García de la Calera A, Dupuis-Girod S, Faure F, Decullier E, Paintaud G, Vignault C, Scoazec JY, Pivot C, Plauchu H, Pirot F.

Eur J Pharm Biopharm. 2012 Feb;80(2):465-9. doi: 10.1016/j.ejpb.2011.11.004. Epub 2011 Nov 18.

PMID:
22120685
14.

Cerebral abscesses in hereditary haemorrhagic telangiectasia: a clinical and microbiological evaluation.

Mathis S, Dupuis-Girod S, Plauchu H, Giroud M, Barroso B, Ly KH, Ingrand P, Gilbert B, Godenèche G, Neau JP.

Clin Neurol Neurosurg. 2012 Apr;114(3):235-40. doi: 10.1016/j.clineuro.2011.10.036. Epub 2011 Nov 16.

PMID:
22093524
15.

Psychosocial quality of life in hereditary haemorrhagic telangiectasia patients.

Loaëc M, Morinière S, Hitier M, Ferrant O, Plauchu H, Babin E.

Rhinology. 2011 Jun;49(2):164-7. doi: 10.4193/Rhino10.090.

PMID:
21743870
16.

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

Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G.

Clin Genet. 2012 May;81(5):433-42. doi: 10.1111/j.1399-0004.2011.01703.x. Epub 2011 Jun 2.

17.

How to improve specific databases for clinical data in rare diseases? The example of hereditary haemorrhagic telangiectasia.

Decullier E, Dupuis-Girod S, Plauchu H, Perret J, Chapuis F.

J Eval Clin Pract. 2012 Jun;18(3):523-7. doi: 10.1111/j.1365-2753.2010.01627.x. Epub 2011 Jan 6.

PMID:
21210904
18.

[Rendu-Osler disease: clinical and molecular update].

Bailly S, Dupuis-Girod S, Plauchu H.

Med Sci (Paris). 2010 Oct;26(10):855-60. doi: 10.1051/medsci/20102610855. Review. French.

19.

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

Ong KT, Perdu J, De Backer J, Bozec E, Collignon P, Emmerich J, Fauret AL, Fiessinger JN, Germain DP, Georgesco G, Hulot JS, De Paepe A, Plauchu H, Jeunemaitre X, Laurent S, Boutouyrie P.

Lancet. 2010 Oct 30;376(9751):1476-84. doi: 10.1016/S0140-6736(10)60960-9. Epub 2010 Sep 7. Erratum in: Lancet. 2016 Aug 6;388(10044):564. Dosage error in published abstract; MEDLINE/PubMed abstract corrected; Dosage error in article text.

PMID:
20825986
20.

Cardiovascular manifestations in men and women carrying a FBN1 mutation.

Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, Jondeau G.

Eur Heart J. 2010 Sep;31(18):2223-9. doi: 10.1093/eurheartj/ehq258. Epub 2010 Aug 13.

21.

Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome.

Detaint D, Aegerter P, Tubach F, Hoffman I, Plauchu H, Dulac Y, Faivre LO, Delrue MA, Collignon P, Odent S, Tchitchinadze M, Bouffard C, Arnoult F, Gautier M, Boileau C, Jondeau G.

Arch Cardiovasc Dis. 2010 May;103(5):317-25. doi: 10.1016/j.acvd.2010.04.008. Epub 2010 Jul 1.

22.

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.

Dupuis-Girod S, Bailly S, Plauchu H.

J Thromb Haemost. 2010 Jul;8(7):1447-56. doi: 10.1111/j.1538-7836.2010.03860.x. Epub 2010 Mar 19. Review.

23.

Long-term outcome of patients with hereditary hemorrhagic telangiectasia and severe hepatic involvement after orthotopic liver transplantation: a single-center study.

Dupuis-Girod S, Chesnais AL, Ginon I, Dumortier J, Saurin JC, Finet G, Decullier E, Marion D, Plauchu H, Boillot O.

Liver Transpl. 2010 Mar;16(3):340-7. doi: 10.1002/lt.21990.

24.

High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia.

Grève E, Moussata D, Gaudin JL, Lapalus MG, Giraud S, Dupuis-Girod S, Calender A, Plauchu H, Saurin JC.

Gastrointest Endosc. 2010 Apr;71(4):760-7. doi: 10.1016/j.gie.2009.11.004. Epub 2010 Feb 18.

PMID:
20170910
25.

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

Attias D, Stheneur C, Roy C, Collod-Béroud G, Detaint D, Faivre L, Delrue MA, Cohen L, Francannet C, Béroud C, Claustres M, Iserin F, Khau Van Kien P, Lacombe D, Le Merrer M, Lyonnet S, Odent S, Plauchu H, Rio M, Rossi A, Sidi D, Steg PG, Ravaud P, Boileau C, Jondeau G.

Circulation. 2009 Dec 22;120(25):2541-9. doi: 10.1161/CIRCULATIONAHA.109.887042. Epub 2009 Dec 7.

26.

[Hereditary hemorrhagic telangiectasia].

Plauchu H, Dupuis-Girod S.

Rev Prat. 2009 Sep 20;59(7):899-903. French.

PMID:
19839452
27.

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; HHT Foundation International - Guidelines Working Group.

J Med Genet. 2011 Feb;48(2):73-87. doi: 10.1136/jmg.2009.069013. Epub 2009 Jun 23.

28.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V.

Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29.

29.

Stroke following pulmonary arteriovenous fistula embolization in a patient with HHT.

Felix S, Jeannin S, Goizet C, Thambo JB, Giraud S, Plauchu H, Montaudon M, Sibon I.

Neurology. 2008 Dec 9;71(24):2012-4. doi: 10.1212/01.wnl.0000336973.27761.45. No abstract available.

PMID:
19064885
30.

Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia.

Poisson A, Vasdev A, Brunelle F, Plauchu H, Dupuis-Girod S; French Italian HHT network.

Eur J Pediatr. 2009 Feb;168(2):135-9. doi: 10.1007/s00431-008-0863-2. Epub 2008 Nov 20. Review.

PMID:
19020899
31.

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences.

Gincul R, Lesca G, Gelas-Dore B, Rollin N, Barthelet M, Dupuis-Girod S, Pilleul F, Giraud S, Plauchu H, Saurin JC.

Hepatology. 2008 Nov;48(5):1570-6. doi: 10.1002/hep.22514.

PMID:
18972447
32.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.

33.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.

J Med Genet. 2008 Jun;45(6):384-90. doi: 10.1136/jmg.2007.056382. Epub 2008 Feb 29.

34.

Bone morphogenetic protein-9 is a circulating vascular quiescence factor.

David L, Mallet C, Keramidas M, Lamandé N, Gasc JM, Dupuis-Girod S, Plauchu H, Feige JJ, Bailly S.

Circ Res. 2008 Apr 25;102(8):914-22. doi: 10.1161/CIRCRESAHA.107.165530. Epub 2008 Feb 28.

35.

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

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; French-Italian HHT Network.

Eur J Hum Genet. 2008 Jun;16(6):742-9. doi: 10.1038/ejhg.2008.3. Epub 2008 Feb 20.

36.

Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases.

Curie A, Lesca G, Cottin V, Edery P, Bellon G, Faughnan ME, Plauchu H.

J Pediatr. 2007 Sep;151(3):299-306. Epub 2007 Jul 25.

PMID:
17719943
37.

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.

Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.

Am J Hum Genet. 2007 Sep;81(3):454-66. Epub 2007 Jul 25.

38.

Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: follow-up and pathophysiologic considerations.

Cottin V, Plauchu H, Dupuis-Girod S, Cordier JF.

J Vasc Interv Radiol. 2007 Jul;18(7):938-9; author reply 939. No abstract available.

PMID:
17609460
39.

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

Caux F, Plauchu H, Chibon F, Faivre L, Fain O, Vabres P, Bonnet F, Selma ZB, Laroche L, Gérard M, Longy M.

Eur J Hum Genet. 2007 Jul;15(7):767-73. Epub 2007 Mar 28.

40.

Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association.

Dupuis-Girod S, Giraud S, Decullier E, Lesca G, Cottin V, Faure F, Merrot O, Saurin JC, Cordier JF, Plauchu H.

Clin Infect Dis. 2007 Mar 15;44(6):841-5. Epub 2007 Feb 1.

PMID:
17304458
41.

Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome.

Reix P, Derelle J, Levrey-Hadden H, Plauchu H, Bellon G.

Pediatr Int. 2007 Feb;49(1):118-20. No abstract available.

PMID:
17250521
42.

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

Lesca G, Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B, Goizet C, Roume J, Rabilloud M, Saurin JC, Cottin V, Honnorat J, Coulet F, Giraud S, Calender A, Danesino C, Buscarini E, Plauchu H; French-Italian-Rendu-Osler Network.

Genet Med. 2007 Jan;9(1):14-22.

PMID:
17224686
43.

Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients.

Cottin V, Chinet T, Lavolé A, Corre R, Marchand E, Reynaud-Gaubert M, Plauchu H, Cordier JF; Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P).

Medicine (Baltimore). 2007 Jan;86(1):1-17.

44.

Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.

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 Int. 2006 Nov;26(9):1040-6. Review.

PMID:
17032403
45.

[Marfan's syndrome and pregnancy].

Lunel A, Audra P, Plauchu H, Gaucherand P.

J Gynecol Obstet Biol Reprod (Paris). 2006 Oct;35(6):607-13. Review. French.

46.

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

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.

Hum Mutat. 2006 Jun;27(6):598.

PMID:
16705692
47.

Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia.

Olivieri C, Lanzarini L, Pagella F, Semino L, Corno S, Valacca C, Plauchu H, Lesca G, Barthelet M, Buscarini E, Danesino C.

Genet Med. 2006 Mar;8(3):183-90.

PMID:
16540754
48.

Orofaciodigital syndrome with cerebral dysgenesis.

Lesca G, Fallet-Bianco C, Plauchu H, Vitrey D, Verloes A, Attia-Sobol J.

Am J Med Genet A. 2006 Apr 1;140(7):757-63.

PMID:
16502430
49.

[Treatments of hereditary hemorrhagic telangiectasia of the nasal mucosa].

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.

Rev Laryngol Otol Rhinol (Bord). 2005;126(1):43-8. French.

PMID:
16080648
50.

Acute mitral regurgitation caused by papillary muscle rupture in the immediate postpartum period revealing Ehlers-Danlos syndrome type IV.

Sève P, Dubreuil O, Farhat F, Plauchu H, Touboul P, Broussolle C.

J Thorac Cardiovasc Surg. 2005 Mar;129(3):680-1. No abstract available.

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