Cartault F - Search Results

1

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.

Cartault F, Munier P, Benko E, Desguerre I, Hanein S, Boddaert N, Bandiera S, Vellayoudom J, Krejbich-Trotot P, Bintner M, Hoarau JJ, Girard M, Génin E, de Lonlay P, Fourmaintraux A, Naville M, Rodriguez D, Feingold J, Renouil M, Munnich A, Westhof E, Fähling M, Lyonnet S, Henrion-Caude A. Cartault F, et al. Proc Natl Acad Sci U S A. 2012 Mar 27;109(13):4980-5. doi: 10.1073/pnas.1111596109. Epub 2012 Mar 12. Proc Natl Acad Sci U S A. 2012. PMID: 22411793 Free PMC article.

2

[Severe anorexia in infants in Reunion: a new autosomal recessive disease?].

Renouil M, Fourmaintraux A, Cartault F, Rodriguez D, Razafinarivo-Schoreitz S, Chaurand G, Wendling C, Bangui A, Ponsot G. Renouil M, et al. Among authors: cartault f. Arch Pediatr. 1999 Jul;6(7):725-34. doi: 10.1016/s0929-693x(99)80354-6. Arch Pediatr. 1999. PMID: 10429812 French.

3

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

Bandiera S, Cartault F, Jannot AS, Hatem E, Girard M, Rifai L, Loiseau C, Munnich A, Lyonnet S, Henrion-Caude A. Bandiera S, et al. Among authors: cartault f. PLoS One. 2013;8(1):e54791. doi: 10.1371/journal.pone.0054791. Epub 2013 Jan 30. PLoS One. 2013. PMID: 23382970 Free PMC article.

4

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Cartault F, Munier P, Jacquemont ML, Vellayoudom J, Doray B, Payet C, Randrianaivo H, Laville JM, Munnich A, Cormier-Daire V. Cartault F, et al. Eur J Hum Genet. 2015 Jan;23(1):49-53. doi: 10.1038/ejhg.2014.60. Epub 2014 Apr 23. Eur J Hum Genet. 2015. PMID: 24755949 Free PMC article.

5

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients.

Sarasin A, Munier P, Cartault F. Sarasin A, et al. Among authors: cartault f. Genet Mol Biol. 2019 Dec 13;43(1 suppl 1):e20190046. doi: 10.1590/1678-4685-GMB-2019-0046. eCollection 2019. Genet Mol Biol. 2019. PMID: 31930276 Free PMC article.

6

A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.

Cartault F, Nava C, Malbrunot AC, Munier P, Hebert JC, N'guyen P, Djeridi N, Pariaud P, Pariaud J, Dupuy A, Austerlitz F, Sarasin A. Cartault F, et al. DNA Repair (Amst). 2011 Jun 10;10(6):577-85. doi: 10.1016/j.dnarep.2011.03.005. Epub 2011 Apr 8. DNA Repair (Amst). 2011. PMID: 21482201

7

[Clinical aspects and genetic specificities of cystic fibrosis in Reunion Island].

Flodrops H, Renouil M, Lesure F, Maréchal D, Piyaraly S, Arvin-Bérod C, Robillard PY, Fourmaintraux A, Cartault F. Flodrops H, et al. Among authors: cartault f. Arch Pediatr. 2003 Nov;10(11):955-9. doi: 10.1016/j.arcped.2003.09.008. Arch Pediatr. 2003. PMID: 14613688 French.

8

[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].

Renouil M, Stojkovic T, Jacquemont ML, Lauret K, Boué P, Fourmaintraux A, Randrianaivo H, Tallot M, Mignard D, Roelens P, Tabailloux D, Bernard R, Cartault F, Chane-Thien E, Dubourg O, Ferrer X, Sole G, Fournier E, Latour P, Lacour A, Mignard C. Renouil M, et al. Among authors: cartault f. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):603-12. doi: 10.1016/j.neurol.2013.07.004. Epub 2013 Sep 5. Rev Neurol (Paris). 2013. PMID: 24011642 French.

9

A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.

Bienvenu T, Cartault F, Lesure F, Renouil M, Beldjord C, Kaplan JC. Bienvenu T, et al. Among authors: cartault f. Hum Hered. 1996 May-Jun;46(3):168-71. doi: 10.1159/000154347. Hum Hered. 1996. PMID: 8860012

10

Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.

Bienvenu T, Viel M, Leroy C, Cartault F, Lesure JF, Renouil M. Bienvenu T, et al. Among authors: cartault f. Hum Biol. 2005 Oct;77(5):705-14. doi: 10.1353/hub.2006.0002. Hum Biol. 2005. PMID: 16596947

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