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Volumn 76, Issue 5, 2005, Pages 850-858

Identifying candidate hirschsprung disease-associated RET variants

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENOMIC DNA; PROTEIN RET; TRANSCRIPTION FACTOR;

EID: 20244382845     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/429589     Document Type: Article
Times cited : (51)

References (19)
  • 1
    • 0034764984 scopus 로고    scopus 로고
    • Hirschsprung disease, associated syndromes, and genetics: A review
    • Amiel J, Lyonnet S (2001) Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38:729-739
    • (2001) J Med Genet , vol.38 , pp. 729-739
    • Amiel, J.1    Lyonnet, S.2
  • 4
    • 0037217482 scopus 로고    scopus 로고
    • A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma
    • Borrego S, Wright F, Fernandez R, Williams N, Lopez-Alonso M, Davuluri R, Antinolo G, Eng C (2003) A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet 72:88-100
    • (2003) Am J Hum Genet , vol.72 , pp. 88-100
    • Borrego, S.1    Wright, F.2    Fernandez, R.3    Williams, N.4    Lopez-Alonso, M.5    Davuluri, R.6    Antinolo, G.7    Eng, C.8
  • 8
    • 0023235253 scopus 로고
    • Haplotype relative risks: An easy reliable way to construct a proper control sample for risk calculations
    • Falk CT, Rubinstein P (1987) Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 51:227-233
    • (1987) Ann Hum Genet , vol.51 , pp. 227-233
    • Falk, C.T.1    Rubinstein, P.2
  • 12
    • 13444311533 scopus 로고    scopus 로고
    • A common haplotype at the 5′ end of the RET proto-oncogene underlies genetic susceptibility to HSCR development through reduced gene expression
    • Griseri P, Bachetti T, Puppo F, Lantieri F, Ravazzolo R, Devoto M, Ceccherini I (2005) A common haplotype at the 5′ end of the RET proto-oncogene underlies genetic susceptibility to HSCR development through reduced gene expression. Hum Mutat 25:189-195
    • (2005) Hum Mutat , vol.25 , pp. 189-195
    • Griseri, P.1    Bachetti, T.2    Puppo, F.3    Lantieri, F.4    Ravazzolo, R.5    Devoto, M.6    Ceccherini, I.7
  • 14
    • 0020054803 scopus 로고
    • Hirschsprung's congenital megacolon: The concept of physiopathology and therapy
    • Holschneider A (1982) Hirschsprung's congenital megacolon: the concept of physiopathology and therapy. Med Welt 33:210-213
    • (1982) Med Welt , vol.33 , pp. 210-213
    • Holschneider, A.1
  • 15
    • 0035479144 scopus 로고    scopus 로고
    • The RET receptor: Function in development and dysfunction in congenital malformation
    • Manie S, Santoro M, Fusco A, Billaud M (2001) The RET receptor: function in development and dysfunction in congenital malformation. Trends Genet 17:580-589
    • (2001) Trends Genet , vol.17 , pp. 580-589
    • Manie, S.1    Santoro, M.2    Fusco, A.3    Billaud, M.4
  • 16
    • 4544268945 scopus 로고    scopus 로고
    • ETS transcription factors: Possible targets for cancer therapy
    • Oikawa T (2004) ETS transcription factors: possible targets for cancer therapy. Cancer Sci 95:626-633
    • (2004) Cancer Sci , vol.95 , pp. 626-633
    • Oikawa, T.1
  • 18
    • 0029858544 scopus 로고    scopus 로고
    • The TDT and other family-based tests for linkage disequilibrium and association
    • Spielman RS, Ewens WJ (1996) The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 59:983-989
    • (1996) Am J Hum Genet , vol.59 , pp. 983-989
    • Spielman, R.S.1    Ewens, W.J.2
  • 19
    • 0026494911 scopus 로고
    • A haplotype-based "haplotype relative risk" approach to detect allelic associations
    • Terwilliger JD, Ott J (1992) A haplotype-based "haplotype relative risk" approach to detect allelic associations. Hum Hered 42:337-346
    • (1992) Hum Hered , vol.42 , pp. 337-346
    • Terwilliger, J.D.1    Ott, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.