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485 results

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Expression of the SMADIP1 gene during early human development.
Espinosa-Parrilla Y, Amiel J, Augé J, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Espinosa-Parrilla Y, et al. Among authors: lyonnet s. Mech Dev. 2002 Jun;114(1-2):187-91. doi: 10.1016/s0925-4773(02)00062-x. Mech Dev. 2002. PMID: 12175509 Free article.
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J. de Pontual L, et al. Among authors: lyonnet s. Hum Mol Genet. 2003 Dec 1;12(23):3173-80. doi: 10.1093/hmg/ddg339. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532329
Werner mesomelic dysplasia with Hirschsprung disease.
Goldenberg A, Milh M, de Lagausie P, Mesnage R, Benarif F, de Blois MC, Munnich A, Lyonnet S, Cormier-Daire V. Goldenberg A, et al. Among authors: lyonnet s. Am J Med Genet A. 2003 Dec 1;123A(2):186-9. doi: 10.1002/ajmg.a.20285. Am J Med Genet A. 2003. PMID: 14598345
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frébourg T, Munnich A, Lyonnet S, Delattre O, Amiel J. Trochet D, et al. Among authors: lyonnet s. Am J Hum Genet. 2004 Apr;74(4):761-4. doi: 10.1086/383253. Epub 2004 Mar 11. Am J Hum Genet. 2004. PMID: 15024693 Free PMC article.
Polyalanine expansions in human.
Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S. Amiel J, et al. Among authors: lyonnet s. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R235-43. doi: 10.1093/hmg/ddh251. Hum Mol Genet. 2004. PMID: 15358730 Review.
485 results