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Results: 1-14 |
Results: 14
Craniofacial development: Morphogenesis and determinism
Authors: Attie-Bitach, T Vekemans, M Encha-Razavi, F
Citation: T. Attie-bitach et al., Craniofacial development: Morphogenesis and determinism, ARCH PED, 8, 2001, pp. 390S-392S
Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation
Authors: Rendtorff, ND Frodin, M Attie-Bitach, T Vekemans, M Tommerup, N
Citation: Nd. Rendtorff et al., Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation, GENOMICS, 71(1), 2001, pp. 40-52
Renal coloboma syndrome
Authors: Dureau, P Attie-Bitach, T Salomon, R Bettembourg, O Amiel, J Uteza, Y Dufier, JL
Citation: P. Dureau et al., Renal coloboma syndrome, OPHTHALMOL, 108(10), 2001, pp. 1912-1916
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome
Authors: Amiel, J Attie-Bitach, T Marianowski, R Cormier-Daire, V Abadie, V Bonnet, D Gonzales, M Chemouny, S Brunelle, F Munnich, A Manach, Y Lyonnet, S
Citation: J. Amiel et al., Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome, AM J MED G, 99(2), 2001, pp. 124-127
PAX2 mutations in oligomeganephronia
Authors: Salomon, R Tellier, AL Attie-Bitach, T Amiel, J Vekemans, M Lyonnet, S Dureau, P Niaudet, P Gubler, MC Broyer, M
Citation: R. Salomon et al., PAX2 mutations in oligomeganephronia, KIDNEY INT, 59(2), 2001, pp. 457-462
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism
Authors: Amiel, J Audollent, S Joly, D Dureau, P Salomon, R Tellier, AL Auge, J Bouissou, F Antignac, C Gubler, MC Eccles, MR Munnich, A Vekemans, M Lyonnet, S Attie-Bitach, T
Citation: J. Amiel et al., PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism, EUR J HUM G, 8(11), 2000, pp. 820-826
Expression of the PTEN tumour suppressor protein during human development
Authors: Gimm, O Attie-Bitach, T Lees, JA Vekemans, M Eng, C
Citation: O. Gimm et al., Expression of the PTEN tumour suppressor protein during human development, HUM MOL GEN, 9(11), 2000, pp. 1633-1639
JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome
Authors: Crosnier, C Attie-Bitach, T Encha-Razavi, F Audollent, S Soudy, F Hadchouel, M Meunier-Rotival, M Vekemans, M
Citation: C. Crosnier et al., JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome, HEPATOLOGY, 32(3), 2000, pp. 574-581
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome
Authors: Tellier, AL Amiel, J Delezoide, AL Audollent, S Auge, J Esnault, D Encha-Razavi, F Munnich, A Lyonnet, S Vekemans, M Attie-Bitach, T
Citation: Al. Tellier et al., Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome, AM J MED G, 93(2), 2000, pp. 85-88
Expression of the sonic hedgehog gene in human embryos with neural tube defects
Authors: Kirillova, I Novikova, I Auge, J Audollent, S Esnault, D Encha-Razavi, F Lazjuk, G Attie-Bitach, T Vekemans, M
Citation: I. Kirillova et al., Expression of the sonic hedgehog gene in human embryos with neural tube defects, TERATOLOGY, 61(5), 2000, pp. 347-354
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
Authors: Touraine, RL Attie-Bitach, T Manceau, E Korsch, E Sarda, P Pingault, V Encha-Razavi, F Pelet, A Auge, J Nivelon-Chevallier, A Holschneider, AM Munnes, M Doerfler, W Goossens, M Munnich, A Vekemans, M Lyonnet, S
Citation: Rl. Touraine et al., Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain, AM J HU GEN, 66(5), 2000, pp. 1496-1503
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
Expression of the RET proto-oncogene in human embryos
Authors: Attie-Bitach, T Abitbol, M Gerard, M Delezoide, AL Auge, J Pelet, A Amiel, J Pachnis, V Munnich, A Lyonnet, S Vekemans, M
Citation: T. Attie-bitach et al., Expression of the RET proto-oncogene in human embryos, AM J MED G, 80(5), 1998, pp. 481-486
Risultati: 1-14 |