A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus-Reference-Cited by-同舟云学术

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A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

Published:2000-01-04 Issue:1 Volume:97 Page:268-273
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

Bolk S.,Pelet A.,Hofstra R. M. W.,Angrist M.,Salomon R.,Croaker D.,Buys C. H. C. M.,Lyonnet S.,Chakravarti A.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Reference41 articles.

1. Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci

2. A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients

3. Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

4. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

Cited by 178 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Research progress, problems, and prospects in the genetic study of Hirschsprung disease;Chinese Science Bulletin;2023-09-01

2. Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease;World Journal of Pediatrics;2023-03-01

3. A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism;Cellular and Molecular Gastroenterology and Hepatology;2022-12

4. Distribution of RET proto‐oncogene variants in children with appendicitis;Molecular Genetics & Genomic Medicine;2022-01-03

5. Genetic Background Influences Severity of Colonic Aganglionosis and Response to GDNF Enemas in the Holstein Mouse Model of Hirschsprung Disease;International Journal of Molecular Sciences;2021-12-05

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