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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. Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640453
Expression of the RET proto-oncogene in human embryos.
Attié-Bitach T, Abitbol M, Gérard M, Delezoide AL, Augé J, Pelet A, Amiel J, Pachnis V, Munnich A, Lyonnet S, Vekemans M. Attié-Bitach T, et al. Am J Med Genet. 1998 Dec 28;80(5):481-6. doi: 10.1002/(sici)1096-8628(19981228)80:5<481::aid-ajmg8>3.0.co;2-6. Am J Med Genet. 1998. PMID: 9880212
Pax2 in the development of renal and urinary tract diseases.
Joly D, Salomon R, Amiel J, Tellier AL, Attié-Bitach T, Grünfeld JP. Joly D, et al. Adv Nephrol Necker Hosp. 1999;29:317-27. Adv Nephrol Necker Hosp. 1999. PMID: 10561753 Review. No abstract available.
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S. Touraine RL, et al. Am J Hum Genet. 2000 May;66(5):1496-503. doi: 10.1086/302895. Epub 2000 Apr 4. Am J Hum Genet. 2000. PMID: 10762540 Free PMC article.
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.
Tellier AL, Amiel J, Delezoide AL, Audollent S, Augé J, Esnault D, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Tellier AL, et al. Am J Med Genet. 2000 Jul 17;93(2):85-8. doi: 10.1002/1096-8628(20000717)93:2<85::aid-ajmg1>3.0.co;2-b. Am J Med Genet. 2000. PMID: 10869107
JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome.
Crosnier C, Attié-Bitach T, Encha-Razavi F, Audollent S, Soudy F, Hadchouel M, Meunier-Rotival M, Vekemans M. Crosnier C, et al. Hepatology. 2000 Sep;32(3):574-81. doi: 10.1053/jhep.2000.16600. Hepatology. 2000. PMID: 10960452
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Augé J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T. Amiel J, et al. Eur J Hum Genet. 2000 Nov;8(11):820-6. doi: 10.1038/sj.ejhg.5200539. Eur J Hum Genet. 2000. PMID: 11093271
PAX2 mutations in oligomeganephronia.
Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M. Salomon R, et al. Kidney Int. 2001 Feb;59(2):457-62. doi: 10.1046/j.1523-1755.2001.059002457.x. Kidney Int. 2001. PMID: 11168927
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].
Amiel J, Salomon R, Attié-Bitach T, Touraine R, Steffann J, Pelet A, Nihoul-Fékété C, Vekemans M, Munnich A, Lyonnet S. Amiel J, et al. J Soc Biol. 2000;194(3-4):125-8. J Soc Biol. 2000. PMID: 11324313 Review. French.
Renal coloboma syndrome.
Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL. Dureau P, et al. Ophthalmology. 2001 Oct;108(10):1912-6. doi: 10.1016/s0161-6420(01)00722-9. Ophthalmology. 2001. PMID: 11581073
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