Sébillon P - Search Results

1

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

Sébillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaïche A, Charniot JC, Schwartz K, Villard E, Komajda M. Sébillon P, et al. J Med Genet. 2003 Aug;40(8):560-7. doi: 10.1136/jmg.40.8.560. J Med Genet. 2003. PMID: 12920062 Free PMC article.

2

Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy.

Sylvius N, Duboscq-Bidot L, Bouchier C, Charron P, Benaiche A, Sébillon P, Komajda M, Villard E. Sylvius N, et al. Among authors: sebillon p. Am J Med Genet A. 2003 Jul 1;120A(1):8-12. doi: 10.1002/ajmg.a.20003. Am J Med Genet A. 2003. PMID: 12794684

3

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.

Charniot JC, Pascal C, Bouchier C, Sébillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M. Charniot JC, et al. Among authors: sebillon p. Hum Mutat. 2003 May;21(5):473-81. doi: 10.1002/humu.10170. Hum Mutat. 2003. PMID: 12673789

4

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.

Charron P, Villard E, Sébillon P, Laforêt P, Maisonobe T, Duboscq-Bidot L, Romero N, Drouin-Garraud V, Frébourg T, Richard P, Eymard B, Komajda M. Charron P, et al. Among authors: sebillon p. Heart. 2004 Aug;90(8):842-6. doi: 10.1136/hrt.2003.029504. Heart. 2004. PMID: 15253947 Free PMC article.

5

COOH-terminal truncated human cardiac MyBP-C alters myosin filament organization.

Sébillon P, Bonne G, Flavigny J, Venin S, Rouche A, Fiszman M, Vikstrom K, Leinwand L, Carrier L, Schwartz K. Sébillon P, et al. C R Acad Sci III. 2001 Mar;324(3):251-60. doi: 10.1016/s0764-4469(00)01292-0. C R Acad Sci III. 2001. PMID: 11291312

6

Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease.

Laforêt P, Charron P, Maisonobe T, Romero NB, Villard E, Sebillon P, Drouin-Garraud V, Dubourg O, Fardeau M, Komajda M, Eymard B. Laforêt P, et al. Among authors: sebillon p. Neurology. 2004 Oct 26;63(8):1535. doi: 10.1212/01.wnl.0000141858.80738.aa. Neurology. 2004. PMID: 15505188 No abstract available.

7

COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.

Flavigny J, Souchet M, Sébillon P, Berrebi-Bertrand I, Hainque B, Mallet A, Bril A, Schwartz K, Carrier L. Flavigny J, et al. Among authors: sebillon p. J Mol Biol. 1999 Nov 26;294(2):443-56. doi: 10.1006/jmbi.1999.3276. J Mol Biol. 1999. PMID: 10610770

8

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

Postma AV, Denjoy I, Kamblock J, Alders M, Lupoglazoff JM, Vaksmann G, Dubosq-Bidot L, Sebillon P, Mannens MM, Guicheney P, Wilde AA. Postma AV, et al. Among authors: sebillon p. J Med Genet. 2005 Nov;42(11):863-70. doi: 10.1136/jmg.2004.028993. J Med Genet. 2005. PMID: 16272262 Free PMC article.

9

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.

Postma AV, Denjoy I, Hoorntje TM, Lupoglazoff JM, Da Costa A, Sebillon P, Mannens MM, Wilde AA, Guicheney P. Postma AV, et al. Among authors: sebillon p. Circ Res. 2002 Oct 18;91(8):e21-6. doi: 10.1161/01.res.0000038886.18992.6b. Circ Res. 2002. PMID: 12386154

10

Rapid and direct detection of the most frequent Mediterranean beta-thalassemic mutations by multiplex allele-specific enzymatic amplification.

Bienvenu T, Sebillon P, Labie D, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: sebillon p. Hum Biol. 1992 Feb;64(1):107-13. Hum Biol. 1992. PMID: 1582644

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