Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect
Kgokolo, M., Morice‐Picard, F., Rezvani, H. R., Austerlitz, F., Cartault, F., Sarasin, A., Sathekge, M., Taieb, A., Ged, C.
Published in British journal of dermatology (1951) (01.11.2019)
Published in British journal of dermatology (1951) (01.11.2019)
Get full text
Journal Article
The role of large bubbles detected from acoustic measurements on the dynamics of Erta 'Ale lava lake (Ethiopia)
Bouche, E., Vergniolle, S., Staudacher, T., Nercessian, A., Delmont, J.-C., Frogneux, M., Cartault, F., Le Pichon, A.
Published in Earth and planetary science letters (15.06.2010)
Published in Earth and planetary science letters (15.06.2010)
Get full text
Journal Article
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
Callebaut, Isabelle, Joubrel, Rozenn, Pissard, Serge, Kannengiesser, Caroline, Gérolami, Victoria, Ged, Cécile, Cadet, Estelle, Cartault, François, Ka, Chandran, Gourlaouen, Isabelle, Gourhant, Lénaick, Oudin, Claire, Goossens, Michel, Grandchamp, Bernard, De Verneuil, Hubert, Rochette, Jacques, Férec, Claude, Le Gac, Gérald
Published in Human molecular genetics (01.09.2014)
Published in Human molecular genetics (01.09.2014)
Get full text
Journal Article
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
Pasmant, E, Sabbagh, A, Hanna, N, Masliah-Planchon, J, Jolly, E, Goussard, P, Ballerini, P, Cartault, F, Barbarot, S, Landman-Parker, J, Soufir, N, Parfait, B, Vidaud, M, Wolkenstein, P, Vidaud, D, France, R N F
Published in Journal of medical genetics (01.07.2009)
Published in Journal of medical genetics (01.07.2009)
Get full text
Journal Article
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
Bénit, P, Slama, A, Cartault, F, Giurgea, I, Chretien, D, Lebon, S, Marsac, C, Munnich, A, Rötig, A, Rustin, P
Published in Journal of medical genetics (01.01.2004)
Published in Journal of medical genetics (01.01.2004)
Get full text
Journal Article
Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients
Renouil, M, Stojkovic, T, Jacquemont, M L, 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
Published in Revue neurologique (01.08.2013)
Published in Revue neurologique (01.08.2013)
Get full text
Journal Article
Maxillo-Nasal Dysplasia (Binder Syndrome): Antenatal Discovery and Implications
Cuillier, F., Cartault, F., Lemaire, P., Alessandri, J.L.
Published in Fetal diagnosis and therapy (01.07.2005)
Published in Fetal diagnosis and therapy (01.07.2005)
Get full text
Journal Article
Antenatal Presentation of Isolated Femoral Hypoplasia Discovered at 18 Weeks of Gestation
Cuillier, F., Cartault, F., Moreau, M.L., Lemaire, P.
Published in Fetal diagnosis and therapy (01.05.2005)
Published in Fetal diagnosis and therapy (01.05.2005)
Get full text
Journal Article
Spectrum of CFTR Mutations on Réunion Island: Impact on Neonatal Screening
BIENVENU, T., VIEL, M., LEROY, C., CARTAULT, F., LESURE, J. F., RENOUIL, M.
Published in Human biology (01.10.2005)
Published in Human biology (01.10.2005)
Get full text
Journal Article
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France
Cuisset, L, Jeru, I, Dumont, B, Fabre, A, Cochet, E, Le Bozec, J, Delpech, M, Amselem, S, Touitou, I
Published in Annals of the rheumatic diseases (01.03.2011)
Published in Annals of the rheumatic diseases (01.03.2011)
Get full text
Journal Article
Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
Cwtuult, F., Stefjrrrnn, J., Viduud, D., Botrsquet, S., Lestire, F., Renotiil, M., MeDonell, N., Feingold, J., Belrljord, C., Bienvenu, T.
Published in Clinical genetics (01.11.1998)
Published in Clinical genetics (01.11.1998)
Get full text
Journal Article
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
Besseau-Ayasse, J., Violle-Poirsier, C., Bazin, A., Gruchy, N., Moncla, A., Girard, F., Till, M., Mugneret, F., Coussement, A., Pelluard, F., Jimenez, M., Vago, P., Portnoï, M. F., Dupont, C., Beneteau, C., Amblard, F., Valduga, M., Bresson, J. L., Carré-Pigeon, F., Le Meur, N., Tapia, S., Yardin, C., Receveur, A., Lespinasse, J., Pipiras, E., Beaujard, M. P., Teboul, P., Brisset, S., Catty, M., Nowak, E., Douet Guilbert, N., Lallaoui, H., Bouquillon, S., Gatinois, V., Joly-Helas, G., Prieur, F., Cartault, F., Martin, D., Kleinfinger, P., Molina Gomes, D., Doco-Fenzy, M., Vialard, F.
Published in Prenatal diagnosis (01.05.2014)
Published in Prenatal diagnosis (01.05.2014)
Get full text
Journal Article
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, J C
Published in Human heredity (01.05.1996)
Published in Human heredity (01.05.1996)
Get more information
Journal Article
Étude de la prévalence des cancers cutanés dans une cohorte rétrospective de patients atteints de xeroderma pigmentosum (XP) phototype V et VI
Ventéjou, S., Bagny, K., Waldmeyer, J., Cartault, F., Machet, L., Osdoit, S.
Published in Annales de dermatologie et de vénéréologie (01.12.2018)
Published in Annales de dermatologie et de vénéréologie (01.12.2018)
Get full text
Journal Article
An imidazopyridine anxiolytic alters glucose tolerance in patients: a pilot investigation
Bottaï, T, Cartault, F, Pouget, R, Blayac, J P, Petit, P
Published in Clinical neuropharmacology (01.02.1995)
Published in Clinical neuropharmacology (01.02.1995)
Get more information
Journal Article