Lyonnet S - Search Results

1

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A. Arnold S, et al. Among authors: lyonnet s. Hum Mutat. 2009 May;30(5):771-5. doi: 10.1002/humu.20944. Hum Mutat. 2009. PMID: 19306335 Free PMC article.

2

Segregation at three loci explains familial and population risk in Hirschsprung disease.

Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attié-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A. Gabriel SB, et al. Among authors: lyonnet s. Nat Genet. 2002 May;31(1):89-93. doi: 10.1038/ng868. Epub 2002 Apr 15. Nat Genet. 2002. PMID: 11953745

3

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Castanet M, Park SM, Smith A, Bost M, Léger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M. Castanet M, et al. Among authors: lyonnet s. Hum Mol Genet. 2002 Aug 15;11(17):2051-9. doi: 10.1093/hmg/11.17.2051. Hum Mol Genet. 2002. PMID: 12165566

4

Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).

Amiel J, Pelet A, Trang H, de Pontual L, Simonneau M, Munnich A, Gaultier C, Lyonnet S. Amiel J, et al. Among authors: lyonnet s. Am J Med Genet A. 2003 Feb 15;117A(1):18-20. doi: 10.1002/ajmg.a.10934. Am J Med Genet A. 2003. PMID: 12548735

5

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.

6

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J. Trochet D, et al. Among authors: lyonnet s. Am J Hum Genet. 2005 Mar;76(3):421-6. doi: 10.1086/428366. Epub 2005 Jan 18. Am J Hum Genet. 2005. PMID: 15657873 Free PMC article.

7

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J. Trochet D, et al. Among authors: lyonnet s. Hum Mol Genet. 2005 Dec 1;14(23):3697-708. doi: 10.1093/hmg/ddi401. Epub 2005 Oct 25. Hum Mol Genet. 2005. PMID: 16249188

8

Molecular bases of human neurocristopathies.

Etchevers HC, Amiel J, Lyonnet S. Etchevers HC, et al. Among authors: lyonnet s. Adv Exp Med Biol. 2006;589:213-34. doi: 10.1007/978-0-387-46954-6_14. Adv Exp Med Biol. 2006. PMID: 17076285 Review. No abstract available.

9

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.

Basel-Vanagaite L, Pelet A, Steiner Z, Munnich A, Rozenbach Y, Shohat M, Lyonnet S. Basel-Vanagaite L, et al. Among authors: lyonnet s. Eur J Hum Genet. 2007 Feb;15(2):242-5. doi: 10.1038/sj.ejhg.5201733. Epub 2006 Nov 8. Eur J Hum Genet. 2007. PMID: 17091122

10

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L. Amiel J, et al. Among authors: lyonnet s. Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436254 Free PMC article.

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