Works matching AU Drouin, V.

Results: 11

Goldenhar syndrome and neuroblastoma: a chance association?
Published in:
2003
By:
- Michel-Adde, C.;
- Laquerrière, A.;
- Eurin, D.;
- Drouin-Garraud, V.;
- Marret, S.;
- Laquerrière, A
Publication type:
journal article
Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.
Published in:
Human Genetics, 2011, v. 129, n. 2, p. 149, doi. 10.1007/s00439-010-0909-1
By:
- Granger, B.;
- Gueneau, L.;
- Drouin-Garraud, V.;
- Pedergnana, V.;
- Gagnon, F.;
- Ben Yaou, R.;
- Tezenas du Montcel, S.;
- Bonne, G.
Publication type:
Article
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Published in:
Human Genetics, 2010, v. 127, n. 5, p. 583, doi. 10.1007/s00439-010-0804-9
By:
- Muller, Jean;
- Stoetzel, C.;
- Vincent, M. C.;
- Leitch, C. C.;
- Laurier, V.;
- Danse, J. M.;
- Hellé, S.;
- Marion, V.;
- Bennouna-Greene, V.;
- Vicaire, S.;
- Megarbane, A.;
- Kaplan, J.;
- Drouin-Garraud, V.;
- Hamdani, M.;
- Sigaudy, S.;
- Francannet, C.;
- Roume, J.;
- Bitoun, P.;
- Goldenberg, A.;
- Philip, N.
Publication type:
Article
Mutation update for the CSB/ ERCC6 and CSA/ ERCC8 genes involved in Cockayne syndrome.
Published in:
2010
By:
- Laugel, V.;
- Dalloz, C.;
- Durand, M.;
- Sauvanaud, F.;
- Kristensen, U.;
- Vincent, M.C.;
- Pasquier, L.;
- Odent, S.;
- Cormier-Daire, V.;
- Gener, B.;
- Tobias, E.S.;
- Tolmie, J.L.;
- Martin-Coignard, D.;
- Drouin-Garraud, V.;
- Heron, D.;
- Journel, H.;
- Raffo, E.;
- Vigneron, J.;
- Lyonnet, S.;
- Murday, V.
Publication type:
Other
OPA1‐related sensorineural hearing loss.
Published in:
Acta Ophthalmologica (1755375X), 2012, v. 90, p. 0, doi. 10.1111/j.1755-3768.2012.2784.x
By:
- LERUEZ, S;
- BONNEAU, D;
- AMATI‐BONNEAU, P;
- DEFOORT‐DHELLEMMES, S;
- CROCHET, M;
- DROUIN, V;
- BLANCHET, C;
- JUUL, G;
- LARSEN, M;
- LAENERS, G;
- REYNIER, P;
- MILEA, D
Publication type:
Article
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
Published in:
Clinical Genetics, 2007, v. 72, n. 6, p. 582, doi. 10.1111/j.1399-0004.2007.00906.x
By:
- Krahn, M.;
- Pécheux, C.;
- Chapon, F.;
- Béroud, C.;
- Drouin-Garraud, V.;
- Laforet, P.;
- Romero, N. B.;
- Penisson-Besnier, I.;
- Bernard, R.;
- Urtizberea, J. A.;
- Leturcq, F.;
- Lévy, N.
Publication type:
Article
Screening ofSLC26A4(PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 333, doi. 10.1111/j.1399-0004.2004.00296.x
By:
- Blons, H.;
- Feldmann, D.;
- Duval, V.;
- Messaz, O.;
- Denoyell, F.;
- Loundon, N.;
- Sergout-Allaoui, A.;
- Houang, M.;
- Duriez, F.;
- Lacombe, D.;
- Delobel, B.;
- Leman, J.;
- Catros, H.;
- Journel, H.;
- Drouin-Garraud, V.;
- Obstoy, M.-F.;
- Toutain, A.;
- Oden, S.;
- Toublanc, J. E.;
- Couderc, R.
Publication type:
Article
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Published in:
Molecular Syndromology, 2010, v. 1, n. 2, p. 67, doi. 10.1159/000313786
By:
- Desmyter, L.;
- Ghassibe, M.;
- Revencu, N.;
- Boute, O.;
- Lees, M.;
- François, G.;
- Verellen-Dumoulin, C.;
- Sznajer, Y.;
- Moncla, A.;
- Benateau, H.;
- Claes, K.;
- Devriendt, K.;
- Mathieu, M.;
- Van Maldergem, L.;
- Addor, M.-C.;
- Drouin-Garraud, V.;
- Mortier, G.;
- Bouma, M.;
- Dieux-Coeslier, A.;
- Genevieve, D.
Publication type:
Article
Prenatal revelation of Niemann-Pick disease type C in siblings.
Published in:
2008
By:
- Moreno R;
- Lardennois C;
- Drouin-Garraud V;
- Verspyck E;
- Marret S;
- Laquerrière A
Publication type:
Journal Article
Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.
Published in:
2010
By:
- Girerd B;
- Montani D;
- Coulet F;
- Sztrymf B;
- Yaici A;
- Jaïs X;
- Tregouet D;
- Reis A;
- Drouin-Garraud V;
- Fraisse A;
- Sitbon O;
- O'Callaghan DS;
- Simonneau G;
- Soubrier F;
- Humbert M
Publication type:
Journal Article
Evidence of a Shallow Magma Reservoir Beneath Askja Caldera, Iceland, From Body Wave Tomography.
Published in:
Geophysical Research Letters, 2024, v. 51, n. 9, p. 1, doi. 10.1029/2023GL107851
By:
- Han, J.;
- Rawlinson, N.;
- Greenfield, T.;
- White, R. S.;
- Brandsdóttir, B.;
- Winder, T.;
- Drouin, V.
Publication type:
Article