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Results: 1-10 |
Results: 10
Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism
Authors: Tredano, M de Blic, J Griese, M Fournet, JC Elion, J Bahuau, M
Citation: M. Tredano et al., Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism, CLIN CH L M, 39(2), 2001, pp. 90-108
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P)
Authors: Houdayer, C Bonaiti-Pellie, C Erguy, C Soupre, V Dondon, MG Burglen, L Cougoureux, E Couderc, R Vazquez, MP Bahuau, M
Citation: C. Houdayer et al., Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P), AM J MED G, 104(1), 2001, pp. 86-92
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2
Authors: Houdayer, C Portnoi, MF Vialard, F Soupre, V Crumiere, C Taillemite, JL Couderc, R Vazquez, JP Bahuau, M
Citation: C. Houdayer et al., Pierre Robin sequence and interstitial deletion 2q32.3-q33.2, AM J MED G, 102(3), 2001, pp. 219-226
GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype
Authors: Bahuau, M Pelet, A Vidaud, D Lamireau, T Le Bail, B Munnich, A Vidaud, M Lyonnet, S Lacombe, D
Citation: M. Bahuau et al., GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype, J MED GENET, 38(9), 2001, pp. 638-643
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
Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)
Authors: Bahuau, M Laurendeau, I Pelet, A Assouline, B Lamireau, T Taine, L Bail, B Vergnes, P Gallet, S Vidaud, M Lyonnet, S Lacombe, D Vidaud, D
Citation: M. Bahuau et al., Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B), J MED GENET, 37(2), 2000, pp. 146-150
Compound SFTPB 1549C -> GAA (121ins2) and 457delC heterozygosity in severecongenital lung disease and surfactant protein B (SP-B) deficiency
Authors: Tredano, M van Elburg, RM Kaspers, AG Zimmermann, LJ Houdayer, C Aymard, P Hull, WM Whitsett, JA Elion, J Griese, M Bahuau, M
Citation: M. Tredano et al., Compound SFTPB 1549C -> GAA (121ins2) and 457delC heterozygosity in severecongenital lung disease and surfactant protein B (SP-B) deficiency, HUM MUTAT, 14(6), 1999, pp. 502-509
TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency
Authors: Laurendeau, I Bahuau, M Vodovar, N Larramendy, C Olivi, M Bieche, I Vidaud, M Vidaud, D
Citation: I. Laurendeau et al., TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency, CLIN CHEM, 45(7), 1999, pp. 982-986
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait
Authors: Houdayer, C Soupre, V Rosenberg-Bourgin, M Martinez, H Tredano, M Feldmann, D Feingold, J Aymard, P Munnich, A Le Bouc, Y Vazquez, MP Bahuau, M
Citation: C. Houdayer et al., Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait, ANN GENET, 42(2), 1999, pp. 69-74
Neurofibromatosis type-1
Authors: Vidaud, D Bahuau, M Laurendeau, I Vidaud, M
Citation: D. Vidaud et al., Neurofibromatosis type-1, EUROCANCER 98, 1998, pp. 97-99
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