Superti-Furga A - Search Results

1

[Advances in the treatment of complex venous malformation: endovenous laser].

Fresa M, Ney B, Qanadli SD, Saliou G, Superti-Furga A, De Buys A, El Ezzi O, Raffoul W, Mazzolai L. Fresa M, et al. Rev Med Suisse. 2020 Dec 9;16(718):2387-2390. Rev Med Suisse. 2020. PMID: 33300699 Review. French.

2

[Rare vascular diseases, building dedicated multidisciplinary specialized center].

Krieger C, Baud D, Bouchardy J, Christen-Zaech S, De Buys A, Deglise S, El Ezzi O, Fresa M, Hofer M, Hohl D, Kirsch M, Lazor R, Michel P, Monney P, Munier F, Qanadli SD, Raffoul W, Aubry Rozier B, Saucy F, Schoepfer A, Saliou G, Sekarski N, Superti-Furga A, Wuerzner G, Wasserfallen JB, Mazzolai L. Krieger C, et al. Rev Med Suisse. 2017 Dec 6;13(586):2109-2115. Rev Med Suisse. 2017. PMID: 29211369 French.

3

[Preimplantation genetic testing: legal and ethical aspects in clinical practice].

Simon JP, Pradervand PA, Cina V, Superti-Furga A, Primi MP, Leyvraz-Recrosio C, Fischer M, Vulliemoz N. Simon JP, et al. Rev Med Suisse. 2019 Oct 23;15(668):1909-1913. Rev Med Suisse. 2019. PMID: 31643150 French.

4

[Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it].

Porretta AP, Davoine E, Superti-Furga A, Bhuiyan ZA, Domenichini G, Herrera Siklody C, Pascale P, Haddad C, Schläpfer J, Pruvot É. Porretta AP, et al. Rev Med Suisse. 2020 Jun 3;16(696):1148-1152. Rev Med Suisse. 2020. PMID: 32496703 Review. French.

5

[Next generation sequencing : a diagnostic tool for inherited immune defects].

Droz-Georget S, Riccio O, Royer-Bertrand B, Superti-Furga A, Candotti F. Droz-Georget S, et al. Rev Med Suisse. 2017 Apr 5;13(557):763-766. Rev Med Suisse. 2017. PMID: 28722367 French.

6

[Why does knowledge on rare diseases allow progress in treatments?].

Argiroffo CB, Superti-Furga A. Argiroffo CB, et al. Rev Med Suisse. 2012 Feb 22;8(329):395-6. Rev Med Suisse. 2012. PMID: 22432238 French. No abstract available.

7

SCN5A overlap syndromes: An open-minded approach.

Porretta AP, Probst V, Bhuiyan ZA, Davoine E, Delinière A, Pascale P, Schlaepfer J, Superti-Furga A, Pruvot E. Porretta AP, et al. Heart Rhythm. 2022 Aug;19(8):1363-1368. doi: 10.1016/j.hrthm.2022.03.1223. Epub 2022 Mar 26. Heart Rhythm. 2022. PMID: 35351625 Review.

8

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Di Gioia SA, Bedoni N, von Scheven-Gête A, Vanoni F, Superti-Furga A, Hofer M, Rivolta C. Di Gioia SA, et al. Sci Rep. 2015 May 19;5:10200. doi: 10.1038/srep10200. Sci Rep. 2015. PMID: 25988833 Free PMC article.

9

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L. Segarra NG, et al. Am J Med Genet A. 2015 Dec;167A(12):2902-12. doi: 10.1002/ajmg.a.37338. Epub 2015 Aug 19. Am J Med Genet A. 2015. PMID: 26286438

10

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafé L, Rivolta C, Unger S, Superti-Furga A. Royer-Bertrand B, et al. Sci Rep. 2015 Nov 24;5:17154. doi: 10.1038/srep17154. Sci Rep. 2015. PMID: 26598328 Free PMC article.

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