| 1 | HSCR1, RET
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| Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease.
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| Miao X, Leon TY, Ngan ES, So MT, Yuan ZW, Lui VC, Chen Y, Wong KK, Tam PK, Garcia-Barceló M.
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| Hum Mol Genet 19(8):1461-7. Epub 2010 Jan 20.
2010
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| 2 | HSCR, HSCR1, RET, TRI21
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| Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
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| Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A.
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| Hum Mutat 30(5):771-5. 2009
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| 3 | CCHS1, CCHS3, CHH, GOSHS, HSCR1, HSCR2, HSCR3, HSCR4, HSCR5, MOWS, PCWH, WS4B, WS4A
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| Hirschsprung disease, associated syndromes and genetics: a review.
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| Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium.
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| J Med Genet 45(1):1-14. Epub 2007 Oct 26. Review. 2008
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| 4 | RET, HSCR1
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| Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
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| de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J.
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| Hum Mutat 28(8):790-6. 2007
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| 5 | HSCR1, RET
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| A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.
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| Griseri P, Lantieri F, Puppo F, Bachetti T, Di Duca M, Ravazzolo R, Ceccherini I.
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| Hum Mutat [Epub ahead of print] 2006
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| 6 | RET, HSCR1
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| Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.
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| Sangkhathat S, Kusafuka T, Chengkriwate P, Patrapinyokul S, Sangthong B, Fukuzawa M.
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| J Hum Genet [Epub ahead of print] 2006
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| 7 | HSCR1, RET
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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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| Basel-Vanagaite L, Pelet A, Steiner Z, Munnich A, Rozenbach Y, Shohat M, Lyonnet S.
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| Eur J Hum Genet [Epub ahead of print] 2006
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| 8 | HSCR1, RET
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| Identifying candidate Hirschsprung disease-associated RET variants.
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| Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM.
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| Am J Hum Genet 76(5):850-8. Epub 2005 Mar 9. 2005
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| 9 | SRS7, UPD7M, HSCR1
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| Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.
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| Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V.
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| Eur J Hum Genet 13(9):1013-8. 2005
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| 10 | HSCR1, RET
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| Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.
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| Sancandi M, Griseri P, Pesce B, Patrone G, Puppo F, Lerone M, Martucciello G, Romeo G, Ravazzolo R, Devoto M, Ceccherini I.
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| J Med Genet 40(9):714-8. No abstract available. 2003
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| 11 | HSCR1, RET
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| Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement.
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| Inoue K, Shimotake T, Iwai N.
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| Am J Med Genet 93(4):278-84. 2000
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| 12 | HSCR1, RET
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| Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes.
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| Munnes M, Fanaei S, Schmitz B, Muiznieks I, Holschneider AM, Doerfler W.
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| Am J Med Genet 94(1):19-27. 2000
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| 13 | HSCR1, HSCR8, HSCRM, RET
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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.
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| Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A.
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| Proc Natl Acad Sci U S A 97(1):268-73. 2000
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| 14 | HSCR1, RET
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| Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.
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| Borrego S, et al.
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| J Med Genet 36(10):771-4 1999
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| 15 | HSCR1, RET
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| Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.
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| Geneste O, et al.
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| Hum Mol Genet 8(11):1989-99 1999
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| 16 | HSCR1, MEN2A
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| Hirschsprung disease in MEN 2A : increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
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| Decker RA, Peacock ML, Watson P.
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| Hum Mol Genet 7(1):129-34. 1998
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| 17 | EDNRB, HSCR1, HSCR2, RET
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| Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).
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| Svensson PJ, et al.
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| Hum Genet 103 : 145-148. 1998
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| 18 | HSCR1
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| Oncological implications of RET gene mutations in Hirschsprung's disease.
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| Sijmons RH, et al.
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| Gut 43 : 542-547. 1998
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| 19 | HSCR1, MEN2A, MEN2B, RET
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| Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease.
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| Eng C, et al.
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| Hum Mutat 9 : 97-109. 1997
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| 20 | HSCR1, RET
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| Frequency of RET mutations in long- and short-segment Hirschsprung disease.
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| Seri M, et al.
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| Hum Mutat 9 : 243-249. 1997
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| 21 | CCDC6, HSCR1, MTC1, PTC1, RET
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| Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
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| Peretz H, Luboshitsky R, Baron E, Biton A, Gershoni R, Usher S, Grynberg E, Yakobson E, Graff E, Lapidot M.
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| Hum Mutat 10(2):155-9. 1997
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| 22 | HSCR1, MEN2A, MTC1, RET
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| Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
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| Ito S, Iwashita T, Asai N, Murakami H, Iwata Y, Sobue G, Takahashi M.
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| Cancer Res 57(14):2870-2. 1997
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| 23 | HSCR1, RET
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| Molecular heterogeneity of RET loss of function in Hirschsprung's disease.
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| Carlomagno F, et al.
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| EMBO J 15 : 2717-2725. 1996
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| 24 | RET, HSCR1, MEN2A
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| C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
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| Caron P, et al.
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| J Clin Endocrinol Metab 81 : 2731-2733. 1996
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| 25 | HSCR1, RET
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| Mechanism of Ret dysfunction by Hirschsprung mutations affecting its extracelllar domain.
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| Iwashita T, et al.
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| Hum Mol Genet 5 : 1577-1580. 1996
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| 26 | GDNF, HSCR1, RET
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| Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
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| Angrist M, et al.
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| Nat Genet 14 : 341-344. 1996
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| 27 | GDNF, HSCR1, RET
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| Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
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| Salomon R, et al.
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| Nat Genet 14 : 345-347. 1996
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| 28 | HSCR1, RET
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| Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease.
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| Yin L, et al.
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| Eur J Hum Genet 4 : 356-358. 1996
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| 29 | WS1, HSCR1
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| Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
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| Attiˇ T, et al.
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| J Med Genet 32 : 312-313. 1995
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| 30 | WS1, HSCR1
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| A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX3.
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| Pierpont JW, et al.
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| Clin Genet 47 : 139-143. 1995
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| 31 | RET, HSCR1
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| Loss of function effect of RET mutations causing Hirschsprung disease.
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| Pasini B, et al.
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| Nat Genet 10 : 35-40. 1995
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| 32 | HSCR1, RET
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| Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
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| Angrist M, et al.
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| Hum Mol Genet 4 : 821-830. 1995
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| 33 | HSCR1, RET
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| Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
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| Attiˇ T, et al.
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| Hum Mol Genet 4 : 1381-1386. 1995
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| 34 | RET, HSCR1
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| Mutations of the RET proto-oncogene in Hirschsprung's disease.
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| Edery P, et al.
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| Nature 367 : 378-380. 1994
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| 35 | HSCR1, RET
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| Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.
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| Romeo G, et al.
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| Nature 367 : 377-378. 1994
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| 36 | HSCR1
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| Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2) : a further link with the neurocristopathies ?
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| Fewtrell MS, et al.
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| J Med Genet 31 : 325-327. 1994
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| 37 | RET, HSCR1
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| A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.
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| Attie T, et al.
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| Hum Mol Genet 3 : 1439-1440. 1994
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| 38 | HSCR1
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| Long segment and short segment familial Hirschsprung's disease : variable clinical expression at the RET locus.
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| Edery P, et al.
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| J Med Genet 31 : 602-606. 1994
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| 39 | RET, HSCR1
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| Des mutations du proto-oncog¸ne RET dans la maladie de Hirschsprung.
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| Lyonnet S, et al.
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| C R Acad Sci III 317 : 358-362. 1994
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| 40 | MEN2A, HSCR1, MTC1, RET
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| Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
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| Mulligan LM, et al.
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| Hum Mol Genet 3 : 2163-2167. 1994
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| 41 | RET, HSCR1
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| De-novo mutations of the RET proto-oncogene in Hirschsprung's disease.
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| Pelet A, et al.
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| Lancet 344 : 1769-1770. 1994
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| 42 | HSCR1, RET
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| Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease.
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| Luo Y, et al.
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| Hum Mol Genet 2 : 1803-1808. 1993
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| 43 | HSCR1
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| A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.
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| Angrist M, et al.
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| Nat Genet 4 : 351-356. 1993
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| 44 | HSCR1, D10S196, D10S199, D10S207, D10S208, D10S220, D10S225
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| A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.
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| Lyonnet S, et al.
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| Nat Genet 4 : 346-350. 1993
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