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Mutations of the RET-GDNF signaling pathway in Ondine's curse.
PMID: 9497256 [PubMed - indexed for MEDLINE]
PMCID: PMC1376953
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Cited by 4 PubMed Central articles
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Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.
de Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parrilla Y, Munnich A, Brunet JF, Goridis C, Feingold J, Lyonnet S, et al.
J Med Genet. 2006 May; 43(5):419-23. Epub 2006 Jan 27.
[J Med Genet. 2006]
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Congenital hypoventilation and impaired hypoxic response in Nurr1 mutant mice.
Nsegbe E, Wallén-Mackenzie A, Dauger S, Roux JC, Shvarev Y, Lagercrantz H, Perlmann T, Herlenius E.
J Physiol. 2004 Apr 1; 556(Pt 1):43-59. Epub 2004 Jan 23.
[J Physiol. 2004]
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ReviewHirschsprung disease, associated syndromes, and genetics: a review.
Amiel J, Lyonnet S.
J Med Genet. 2001 Nov; 38(11):729-39.
[J Med Genet. 2001]
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