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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
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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
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Salomon, R
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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
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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
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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:
Pasini, A
Chappuis-Flament, S
Geneste, O
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Michiels, FM
Feunteun, J
Pelet, A
Lyonnet, S
De Vita, G
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Lenoir, GM
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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