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Results:
1-10
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Results: 10
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
Authors:
Amiel, J
Espinosa-Parrilla, Y
Steffann, J
Gosset, P
Pelet, A
Prieur, M
Boute, O
Choiset, A
Lacombe, D
Philip, N
Le Merrer, M
Tanaka, H
Till, M
Touraine, R
Toutain, A
Vekemans, M
Munnich, A
Lyonnet, S
Citation: J. Amiel et al., Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures, AM J HU GEN, 69(6), 2001, pp. 1370-1377
Authors:
Hadj-Rabia, S
Salomon, R
Pelet, A
Penet, C
Rotschild, A
de Laet, MH
Chaouachi, B
Hannachi, R
Bakiri, F
Brauner, R
Chaussain, JL
Munnich, A
Lyonnet, S
Citation: S. Hadj-rabia et al., Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome, EUR J HUM G, 8(8), 2000, pp. 613-620
Authors:
Bolk, S
Pelet, A
Hofstra, RMW
Angrist, M
Salomon, R
Croaker, D
Buys, CHCM
Lyonnet, S
Chakravarti, A
Citation: S. Bolk et al., A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus, P NAS US, 97(1), 2000, pp. 268-273
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
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
Authors:
Myers, SM
Salomon, R
Goessling, A
Pelet, A
Eng, C
von Deimling, A
Lyonnet, S
Mulligan, LM
Citation: Sm. Myers et al., Investigation of germline GFR alpha-1 mutations in Hirschsprung disease, J MED GENET, 36(3), 1999, pp. 217-220
Authors:
Salomon, R
Amiel, J
Attie, T
Pelet, A
Munnich, A
Lyonnet, S
Citation: R. Salomon et al., Molecular insights in a multigenic malformation: Hirschsprung disease., PATH BIOL, 46(9), 1998, pp. 705-707
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
Authors:
Pasini, A
Chappuis-Flament, S
Geneste, O
Fournier, L
Schuffenecker, I
Michiels, FM
Feunteun, J
Pelet, A
Lyonnet, S
De Vita, G
Santoro, M
Lenoir, GM
Giraud, S
Billaud, M
Citation: A. Pasini et al., RET, hereditary cancers and congenital malformation: A deregulation model of a tyrosine kinase receptor in human pathology, EUROCANCER 98, 1998, pp. 95-96
Risultati:
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