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Year | Number of Results |
---|---|
1996 | 3 |
1997 | 1 |
2002 | 2 |
2007 | 1 |
2008 | 1 |
2024 | 0 |
PubMed (cited) for id: 613711
7 results
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Page 1
Hirschsprung disease, associated syndromes and genetics: a review.
J Med Genet. 2008 Jan;45(1):1-14. doi: 10.1136/jmg.2007.053959. Epub 2007 Oct 26.
J Med Genet. 2008.
PMID: 17965226
Review.
Hirschsprung associated GDNF mutations do not prevent RET activation.
Borghini S, Bocciardi R, Bonardi G, Matera I, Santamaria G, Ravazzolo R, Ceccherini I.
Borghini S, et al.
Eur J Hum Genet. 2002 Mar;10(3):183-7. doi: 10.1038/sj.ejhg.5200785.
Eur J Hum Genet. 2002.
PMID: 11973622
Item in Clipboard
Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease.
Eketjäll S, Ibáñez CF.
Eketjäll S, et al.
Hum Mol Genet. 2002 Feb 1;11(3):325-9. doi: 10.1093/hmg/11.3.325.
Hum Mol Genet. 2002.
PMID: 11823451
Item in Clipboard
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.
Hofstra RM, Osinga J, Buys CH.
Hofstra RM, et al.
Eur J Hum Genet. 1997 Jul-Aug;5(4):180-5.
Eur J Hum Genet. 1997.
PMID: 9359036
Review.
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De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.
Ivanchuk SM, Myers SM, Eng C, Mulligan LM.
Ivanchuk SM, et al.
Hum Mol Genet. 1996 Dec;5(12):2023-6. doi: 10.1093/hmg/5.12.2023.
Hum Mol Genet. 1996.
PMID: 8968758
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Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Salomon R, Attié T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fékété C, Munnich A, Lyonnet S.
Salomon R, et al.
Nat Genet. 1996 Nov;14(3):345-7. doi: 10.1038/ng1196-345.
Nat Genet. 1996.
PMID: 8896569
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Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A.
Angrist M, et al.
Nat Genet. 1996 Nov;14(3):341-4. doi: 10.1038/ng1196-341.
Nat Genet. 1996.
PMID: 8896568
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