ArticleAmerican journal of human genetics2006
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 34 citations in OpenAlex.
- Article
- A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.Pediatric research · 2017Article
- Association between NKX2-5 rs29784 and infantile hypertrophic pyloric stenosis in Chinese Han population.International journal of clinical and experimental medicine · 2015Article
- Genetic contribution to motility disorders of the upper gastrointestinal tract.World journal of gastrointestinal pathophysiology · 2013Article
- Infantile hypertrophic pyloric stenosis in twins.BMJ case reports · 2013Article
- Infantile hypertrophic pyloric stenosis--genetics and syndromes.Nature reviews. Gastroenterology & hepatology · 2012Review
- No association between the SNPs (rs56134796; rs3824934; rs41302375) in the TRPC6 gene promoter and infantile hypertrophic pyloric stenosis in Chinese people.Pediatric surgery international · 2011Article
- New insights into the pathogenesis of infantile pyloric stenosis.Pediatric surgery international · 2009Review
- Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing.Human genetics · 2009Article
- Infantile hypertrophic pyloric stenosis: An association in twins?Paediatrics & child health · 2008Article
- Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.American journal of human genetics · 2008Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infantile hypertrophic pyloric stenosis (IHPS) is the most common form of bowel obstruction in infancy. The disease affects males four times more often than females and is considered a paradigm for the sex-modified model of multifactorial inheritance. However, pedigrees consistent with autosomal dominant inheritance have also been documented. We analyzed a 3-generation family with IHPS including 10 affected individuals (5 males and 5 females) and mapped the underlying disease locus to chromosome 16p12-p13 (LOD score 3.23) by using a single-nucleotide polymorphism-based genomewide scan. The analysis of 10 additional multiplex pedigrees yielded negative or nonsignificant LOD scores, indicating the presence of locus heterogeneity. Sequence analysis of candidate genes from the chromosome 16 disease interval excluded the presence of pathogenic mutations in the GRIN2A and MYH11 genes.
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