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Items: 1 to 20 of 77

1.

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X.

Genet Med. 2018 Nov 26. doi: 10.1038/s41436-018-0356-2. [Epub ahead of print]

PMID:
30474650
2.

Hyperammonemic encephalopathy associated with hereditary hemorrhagic telangiectasia.

Dumortier J, Guillaud O, Erard-Poinsot D, Dupuis-Girod S, Francoz C, Durand F.

Clin Res Hepatol Gastroenterol. 2018 Nov 14. pii: S2210-7401(18)30227-4. doi: 10.1016/j.clinre.2018.10.011. [Epub ahead of print] No abstract available.

PMID:
30447907
3.

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.

Poisson A, Lesca G, Chatron N, Favre E, Cottin V, Gamondes D, Sanlaville D, Edery P, Giraud S, Demily C, Dupuis-Girod S.

Eur J Med Genet. 2018 Oct 30. pii: S1769-7212(18)30557-3. doi: 10.1016/j.ejmg.2018.10.017. [Epub ahead of print]

PMID:
30389587
4.

Assessment of Dural Ectasia Using Computed Tomodensitometry as a Criterion in Marfan Syndrome.

Chuzel Q, Dupuis-Girod S, Rousset M, Decharry C, Decullier E, Pialat JB.

J Comput Assist Tomogr. 2018 Oct 26. doi: 10.1097/RCT.0000000000000822. [Epub ahead of print]

PMID:
30371622
5.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
6.

European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT).

Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S.

Orphanet J Rare Dis. 2018 Aug 15;13(1):136. doi: 10.1186/s13023-018-0850-2.

7.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
8.

Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients.

Guilhem A, Fargeton AE, Simon AC, Duffau P, Harle JR, Lavigne C, Carette MF, Bletry O, Kaminsky P, Leguy V, Lerolle N, Roux D, Lambert M, Chinet T, Bonnet D, Dupuis-Girod S, Rivière S.

PLoS One. 2017 Nov 30;12(11):e0188943. doi: 10.1371/journal.pone.0188943. eCollection 2017.

9.

Executive summary of the 12th HHT international scientific conference.

Andrejecsk JW, Hosman AE, Botella LM, Shovlin CL, Arthur HM, Dupuis-Girod S, Buscarini E, Hughes CCW, Lebrin F, Mummery CL, Post MC, Mager JJ.

Angiogenesis. 2018 Feb;21(1):169-181. doi: 10.1007/s10456-017-9585-2.

10.

Small patella syndrome: New clinical and molecular insights into a consistent phenotype.

Vanlerberghe C, Jourdain AS, Dieux A, Toutain A, Callewaert B, Dupuis-Girod S, Unger S, Wright M, Isidor B, Ghoumid J, Petit F, Boutry N, Escande F, Manouvrier-Hanu S.

Clin Genet. 2017 Dec;92(6):676-678. doi: 10.1111/cge.13103. No abstract available.

PMID:
29120062
11.

Pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia: Correlations between computed tomography findings and cerebral complications.

Etievant J, Si-Mohamed S, Vinurel N, Dupuis-Girod S, Decullier E, Gamondes D, Khouatra C, Cottin V, Revel D.

Eur Radiol. 2018 Mar;28(3):1338-1344. doi: 10.1007/s00330-017-5047-x. Epub 2017 Oct 10.

PMID:
29018941
12.

Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability.

Revuz S, Decullier E, Ginon I, Lamblin N, Hatron PY, Kaminsky P, Carette MF, Lacombe P, Simon AC, Rivière S, Harlé JR, Fraisse A, Lavigne C, Leguy-Seguin V, Chaouat A, Khouatra C, Dupuis-Girod S, Hachulla E.

PLoS One. 2017 Oct 5;12(10):e0184227. doi: 10.1371/journal.pone.0184227. eCollection 2017.

13.

The Lung in Hereditary Hemorrhagic Telangiectasia.

Dupuis-Girod S, Cottin V, Shovlin CL.

Respiration. 2017;94(4):315-330. doi: 10.1159/000479632. Epub 2017 Aug 30. Review.

14.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C.

Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.

15.

Response to Bevacizumab for the treatment of Rendu-Osler disease-A note of caution.

Dupuis-Girod S, Buscarini E.

Liver Int. 2017 Jun;37(6):928. doi: 10.1111/liv.13385. No abstract available.

PMID:
28544692
16.

Guidelines of the French Society of Otorhinolaryngology (SFORL) (short version). Specific treatment of epistaxis in Rendu-Osler-Weber disease.

Robard L, Michel J, Prulière Escabasse V, Bequignon E, Vérillaud B, Malard O, Crampette L; SFORL Work-Group.

Eur Ann Otorhinolaryngol Head Neck Dis. 2017 Feb;134(1):37-41. doi: 10.1016/j.anorl.2016.09.010. Epub 2016 Dec 14. Review.

17.

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixedo G, De Backer J, Muiño-Mosquera L, Naudion S, Zordan C, Morisaki T, Morisaki H, Von Kodolitsch Y, Dupuis-Girod S, Morris SA, Jeremy R, Odent S, Adès LC, Bakshi M, Holman K, LeMaire S, Milleron O, Langeois M, Spentchian M, Aubart M, Boileau C, Pyeritz R, Milewicz DM; Montalcino Aortic Consortium.

Circ Cardiovasc Genet. 2016 Dec;9(6):548-558. doi: 10.1161/CIRCGENETICS.116.001485. Epub 2016 Nov 21.

18.

Hereditary hemorrhagic telangiectasia: to transplant or not to transplant?

Dupuis-Girod S, Buscarini E.

Liver Int. 2016 Dec;36(12):1741-1744. doi: 10.1111/liv.13210.

PMID:
27864870
19.

Guidelines of the French Society of Otorhinolaryngology (SFORL). Managing epistaxis under coagulation disorder due to antithrombotic therapy.

Escabasse V, Bequignon E, Vérillaud B, Robard L, Michel J, Malard O, Crampette L; SFORL work group.

Eur Ann Otorhinolaryngol Head Neck Dis. 2017 May;134(3):195-199. doi: 10.1016/j.anorl.2016.10.001. Epub 2016 Nov 9.

20.

Guidelines of the French Society of Otorhinolaryngology (SFORL). First-line treatment of epistaxis in adults.

Bequignon E, Vérillaud B, Robard L, Michel J, Prulière Escabasse V, Crampette L, Malard O; SFORL work-group.

Eur Ann Otorhinolaryngol Head Neck Dis. 2017 May;134(3):185-189. doi: 10.1016/j.anorl.2016.09.008. Epub 2016 Oct 24.

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