Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24 (original) (raw)
MacMahon B : The continuing enigma of pyloric stenosis of infancy: a review. Epidemiology 2006; 17: 195–201. Article Google Scholar
Carter CO : The inheritance of congenital pyloric stenosis. Br Med Bull 1961; 17: 251–254. ArticleCAS Google Scholar
Mitchell LE, Risch N : The genetics of infantile hypertrophic pyloric stenosis. A reanalysis. Am J Dis Child 1993; 147: 1203–1211. ArticleCAS Google Scholar
Chung E, Curtis D, Chen G et al: Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis. Am J Hum Genet 1996; 58: 363–370. CASPubMedPubMed Central Google Scholar
Saur D, Vanderwinden JM, Seidler B, Schmid RM, De Laet MH, Allescher HD : Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. Proc Natl Acad Sci USA 2004; 101: 1662–1667. ArticleCAS Google Scholar
Everett KV, Chioza BA, Georgoula C et al: Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23. Am J Hum Genet 2008; 82: 756–762. ArticleCAS Google Scholar
Jackson L, Kline AD, Barr MA, Koch S : de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993; 47: 940–946. ArticleCAS Google Scholar
Smith DW, Lemli L, Opitz JM : A newly recognised syndrome of multiple congenital anomalies. J Pediatr 1964; 64: 210–217. ArticleCAS Google Scholar
Heller A, Seidel J, Hubler A et al: Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review. J Med Genet 2000; 37: 529–532. ArticleCAS Google Scholar
Hodgson SV, Berry AC, Dunbar HM : Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis. Clin Genet 1995; 48: 328–330. ArticleCAS Google Scholar
Fried K, Aviv S, Nisenbaum C : Probable autosomal dominant infantile pyloric stenosis in a large kindred. Clin Genet 1981; 20: 328–330. ArticleCAS Google Scholar
Capon F, Reece A, Ravindrarajah R, Chung E : Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity. Am J Hum Genet 2006; 79: 378–382. ArticleCAS Google Scholar
Ott J : Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 1989; 86: 4175–4178. ArticleCAS Google Scholar
Weeks DE, Ott J, Lathrop GM : SLINK: a general simulation program for linkage analysis. Am J Hum Genet 1990; 47: A204 (abstr). Google Scholar
Abecasis GR, Cherny SS, Cookson WO, Cardon LR : Merlin – rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30: 97–101. ArticleCAS Google Scholar
Barrett JC, Fry B, Maller J, Daly MJ : Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263–265. ArticleCAS Google Scholar
Li S, Whorton AR : Identification of stereoselective transporters for S-nitroso-L-cysteine: role of LAT1 and LAT2 in biological activity of S-nitrosothiols. J Biol Chem 2005; 280: 20102–20110. ArticleCAS Google Scholar
Gudbjartsson DF, Jonasson K, Frigge ML, Kong A : Allegro a new computer program for multipoint linkage analysis. Nat Genet 2000; 25: 12–13. ArticleCAS Google Scholar
Schlossmann J, Feil R, Hofmann F : Signaling through NO and cGMP-dependent protein kinases. Ann Med 2003; 35: 21–27. ArticleCAS Google Scholar
Foster MW, McMahon TJ, Stamler JS : S-nitrosylation in health and disease. Trends Mol Med 2003; 9: 160–168. ArticleCAS Google Scholar
Li S, Whorton AR : Functional characterization of two S-nitroso-L-cysteine transporters, which mediate movement of NO equivalents into vascular cells. Am J Physiol Cell Physiol 2007; 292: C1263–C1271. ArticleCAS Google Scholar