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Results: 1-16 |
Results: 16
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
Authors: Brown, LY Odent, S David, V Blayau, M Dubourg, C Apacik, C Delgado, MA Ha, BD Reynolds, JF Sommer, A Wieczorek, D Brown, SA Muenke, M
Citation: Ly. Brown et al., Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination, HUM MOL GEN, 10(8), 2001, pp. 791-796
Sulphate transporter gene mutations in apparently isolated club foot
Authors: Huber, C Odent, S Rumeur, S Padovani, P Penet, C Cormier-Daire, V Munnich, A Le Merrer, M
Citation: C. Huber et al., Sulphate transporter gene mutations in apparently isolated club foot, J MED GENET, 38(3), 2001, pp. 191-192
Prader-Willi syndrome and polygonosomal abnormalities in males: about a Prader-Willi/47,XYY patient
Authors: Odent, S Taque, S Lucas, J Le Mee, F Le Marec, B
Citation: S. Odent et al., Prader-Willi syndrome and polygonosomal abnormalities in males: about a Prader-Willi/47,XYY patient, ANN GENET, 44(1), 2001, pp. 1-3
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations
Authors: Jezequel, P Dubourg, C Le Lannou, D Odent, S Le Gall, JY Blayau, M Le Treut, A David, V
Citation: P. Jezequel et al., Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations, MOL HUM REP, 6(12), 2000, pp. 1063-1067
A new mutation in the six-domain of SIX3 gene causes holoprosencephaly
Authors: Pasquier, L Dubourg, C Blayau, M Lazaro, L Le Marec, B David, V Odent, S
Citation: L. Pasquier et al., A new mutation in the six-domain of SIX3 gene causes holoprosencephaly, EUR J HUM G, 8(10), 2000, pp. 797-800
Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases
Authors: Ferreiro, A Estournet, B Chateau, D Romero, NB Laroche, C Odent, S Toutain, A Cabello, A Fontan, D dos Santos, HG Haenggeli, CA Bertini, E Urtizberea, JA Guicheney, P Fardeau, M
Citation: A. Ferreiro et al., Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases, ANN NEUROL, 48(5), 2000, pp. 745-757
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: A second FG locus [FGS2]?
Authors: Briault, S Villard, L Rogner, U Coy, J Odent, S Lucas, J Passage, E Zhu, DP Shrimpton, A Pembrey, M Till, M Guichet, A Dessay, S Fontes, M Poustka, A Moraine, C
Citation: S. Briault et al., Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: A second FG locus [FGS2]?, AM J MED G, 95(2), 2000, pp. 178-181
1q32-q41 microdeletion with reference to van der Woude syndrome and alliedclefting entities
Authors: Houdayer, C Soupre, V Karcenty, B Vazquez, MP Odent, S Lacombe, D Le Bouc, Y Munnich, A Bahuau, M
Citation: C. Houdayer et al., 1q32-q41 microdeletion with reference to van der Woude syndrome and alliedclefting entities, AM J MED G, 91(2), 2000, pp. 161-163
Expression of the Sonic hedgehog (SHH) gene during early human developmentand phenotypic expression of new mutations causing holoprosencephaly
Authors: Odent, S Attie-Bitach, T Blayau, M Mathieu, M Auge, J Delezoide, AL Le Gall, JY Le Marec, B Munnich, A David, V Vekemans, M
Citation: S. Odent et al., Expression of the Sonic hedgehog (SHH) gene during early human developmentand phenotypic expression of new mutations causing holoprosencephaly, HUM MOL GEN, 8(9), 1999, pp. 1683-1689
Expression of the Sonic hedgehog (SHH) gene during early human developmentand phenotypic expression of new mutations causing holoprosencephaly (vol 8, pg 1683, 1999)
Authors: Odent, S Attie-Bitach, T Blayau, M Mathieu, M Auge, J Delezoide, AL Le Gall, JY Le Marec, B Munnich, A David, V Vekemans, M
Citation: S. Odent et al., Expression of the Sonic hedgehog (SHH) gene during early human developmentand phenotypic expression of new mutations causing holoprosencephaly (vol 8, pg 1683, 1999), HUM MOL GEN, 8(12), 1999, pp. 2335-2335
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome
Authors: Briault, S Odent, S Lucas, J Le Merrer, M Turleau, C Munnich, A Moraine, C
Citation: S. Briault et al., Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome, AM J MED G, 86(2), 1999, pp. 112-114
Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses
Authors: Bonneau, D Marechaud, M Odent, S Piegay, I Godard, A Amati, P
Citation: D. Bonneau et al., Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses, AM J MED G, 84(4), 1999, pp. 373-376
Mutations in the nebulin gene associated with autosomal recessive nemalinemyopathy
Authors: Pelin, K Hilpela, P Donner, K Sewry, C Akkari, PA Wilton, SD Wattanasirichaigoon, D Bang, ML Centner, T Hanefeld, F Odent, S Fardeau, M Urtizberea, JA Muntoni, F Dubowitz, V Beggs, AH Laing, NG Labeit, S de la Chapelle, A Wallgren-Pettersson, C
Citation: K. Pelin et al., Mutations in the nebulin gene associated with autosomal recessive nemalinemyopathy, P NAS US, 96(5), 1999, pp. 2305-2310
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia
Authors: Odent, S Loget, P Le Marec, B Delezoide, AL Maroteaux, P
Citation: S. Odent et al., Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia, J MED GENET, 36(4), 1999, pp. 330-332
Gastric carcinoma in Sotos syndrome (cerebral gigantism)
Authors: Le Marec, B Pasquier, L Dugast, C Gosselin, M Odent, S
Citation: B. Le Marec et al., Gastric carcinoma in Sotos syndrome (cerebral gigantism), ANN GENET, 42(2), 1999, pp. 113-116
FRAXE: the HindIII/OXE20 restriction polymorphism is not a rare variant
Authors: Blayau, M Odent, S Dubourg, C David, V
Citation: M. Blayau et al., FRAXE: the HindIII/OXE20 restriction polymorphism is not a rare variant, HUM GENET, 103(5), 1998, pp. 626-627
Risultati: 1-16 |