Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in 80 Patients with Hirschsprung Disease (Using multiplex ligation‐dependent probe amplification)

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Annals of Human Genetics

• Publication date

  2009-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/j.1469-1809.2008.00503.xPMID 19183406
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Mowat–Wilson syndrome: an underdiagnosed syndrome?

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• Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease

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• MLPA and MAPH: Sensitive Detection of Deletions and Duplications

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• A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

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• TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.

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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

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• Global survey of haplotype frequencies and linkage disequilibrium at the RET locus

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• Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

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• Segregation at three loci explains familial and population risk in Hirschsprung disease

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• Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

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• Hirschsprung disease, associated syndromes and genetics: a review

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• Hirschsprung Disease in an Infant with a Contiguous Gene Syndrome of Chromosome 13

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• Novel Mutations of the Endothelin B Receptor Gene in Patients with Hirschsprung’s Disease and Their Characterization*

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• Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

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• Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

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• Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.

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• Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

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• Mutations of the RET proto-oncogene in Hirschsprung's disease

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• One gene—four syndromes

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• A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.

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• Wither polygenic inheritance: Mapping Hirschsprung disease

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• A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

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• The probability of losing an allele when diploid genotypes are sampled.

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