Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

18 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Amiel J, et al. Among authors: laudier b. Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640453
PMX2B, a new candidate gene for Hirschsprung's disease.
Benailly HK, Lapierre JM, Laudier B, Amiel J, Attié T, De Blois MC, Vekemans M, Romana SP. Benailly HK, et al. Among authors: laudier b. Clin Genet. 2003 Sep;64(3):204-9. doi: 10.1034/j.1399-0004.2003.00105.x. Clin Genet. 2003. PMID: 12919134
It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET signaling pathway (RET, GDNF and NTN), genes participating in the endothelin (EDN) type B receptor pathway (EDNRB, EDN3 and ECE …
It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of th …
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: laudier b. 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
PHOX2B gene mutation in a patient with late-onset central hypoventilation.
Trang H, Laudier B, Trochet D, Munnich A, Lyonnet S, Gaultier C, Amiel J. Trang H, et al. Among authors: laudier b. Pediatr Pulmonol. 2004 Oct;38(4):349-51. doi: 10.1002/ppul.20074. Pediatr Pulmonol. 2004. PMID: 15334515
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: laudier b. 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.
Pure proximal deletion of chromosome 21 and kyphosis.
Keren B, Bernardin C, Toutain A, Heron D, Fouquet B, Laudier B, Telvi L, Romana SP, Vekemans M, Sanlaville D. Keren B, et al. Among authors: laudier b. Eur J Med Genet. 2007 Nov-Dec;50(6):469-74. doi: 10.1016/j.ejmg.2007.08.001. Epub 2007 Aug 15. Eur J Med Genet. 2007. PMID: 17890169
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthélémy C, Moraine C, Briault S. Laumonnier F, et al. Among authors: laudier b. Am J Hum Genet. 2004 Mar;74(3):552-7. doi: 10.1086/382137. Epub 2004 Feb 12. Am J Hum Genet. 2004. PMID: 14963808 Free PMC article.
Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.
Perche O, Menuet A, Marcos M, Liu L, Pâris A, Utami KH, Kervran D, Cacheux V, Laudier B, Briault S. Perche O, et al. Among authors: laudier b. Eur J Med Genet. 2013 Nov;56(11):635-41. doi: 10.1016/j.ejmg.2013.07.007. Epub 2013 Sep 4. Eur J Med Genet. 2013. PMID: 24013099
Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization.
Morel F, Laudier B, Guérif F, Couet ML, Royère D, Roux C, Bresson JL, Amice V, De Braekeleer M, Douet-Guilbert N. Morel F, et al. Among authors: laudier b. Hum Reprod. 2007 Jan;22(1):136-41. doi: 10.1093/humrep/del317. Epub 2006 Aug 17. Hum Reprod. 2007. PMID: 16917123 Review.
Meiotic segregation in spermatozoa of a 45,XY,-14,der(18)t(14;18)(q11;p11.3) translocation carrier: a case report.
Perrin A, Douet-Guilbert N, Laudier B, Couet ML, Guérif F, Royère D, Le Bris MJ, De Braekeleer M, Morel F. Perrin A, et al. Among authors: laudier b. Hum Reprod. 2007 Mar;22(3):729-32. doi: 10.1093/humrep/del420. Epub 2006 Oct 24. Hum Reprod. 2007. PMID: 17062581
18 results
Jump to page
Feedback