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Results: 1-7 |
Results: 7
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease
Authors: Cacheux, V Dastot-Le Moal, F Kaariainen, H Bondurand, N Rintala, R Boissier, B Wilson, M Mowat, D Goossens, M
Citation: V. Cacheux et al., Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease, HUM MOL GEN, 10(14), 2001, pp. 1503-1510
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
Authors: Netchine, I Sobrier, ML Krude, H Schnabel, D Maghnie, M Marcos, E Duriez, B Cacheux, V von Moers, A Goossens, M Gruters, A Amselem, S
Citation: I. Netchine et al., Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency, NAT GENET, 25(2), 2000, pp. 182-186
The human dynein intermediate chain 2 gene (DNA12): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia
Authors: Pennarun, G Chapelin, C Escudier, E Bridoux, AM Dastot, F Cacheux, V Goossens, M Amselem, S Duriez, B
Citation: G. Pennarun et al., The human dynein intermediate chain 2 gene (DNA12): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia, HUM GENET, 107(6), 2000, pp. 642-649
Polydom: a secreted protein with pentraxin, complement central protein, epidermal growth factor and von Willebrand factor A domains
Authors: Gilges, D Vinit, MA Callebaut, I Coulombel, L Cacheux, V Romeo, PH Vigon, I
Citation: D. Gilges et al., Polydom: a secreted protein with pentraxin, complement central protein, epidermal growth factor and von Willebrand factor A domains, BIOCHEM J, 352, 2000, pp. 49-59
Analysis of uncultured amniocytes by comparative genomic hybridization: a prospective prenatal study
Authors: Lapierre, JM Cacheux, V Luton, D Collot, N Oury, JF Aurias, A Tachdjian, G
Citation: Jm. Lapierre et al., Analysis of uncultured amniocytes by comparative genomic hybridization: a prospective prenatal study, PRENAT DIAG, 20(2), 2000, pp. 123-131
De novo inverted duplication 9p21pter involving telomeric repeated sequences
Authors: Sanlaville, D Baumann, C Lapierre, JM Romana, S Collot, N Cacheux, V Turleau, C Tachdjian, G
Citation: D. Sanlaville et al., De novo inverted duplication 9p21pter involving telomeric repeated sequences, AM J MED G, 83(2), 1999, pp. 125-131
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia
Authors: Pennarun, G Escudier, E Chapelin, C Bridoux, AM Cacheux, V Roger, G Clement, A Goossens, M Amselem, S Duriez, B
Citation: G. Pennarun et al., Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia, AM J HU GEN, 65(6), 1999, pp. 1508-1519
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