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Volumn 31, Issue 1, 2006, Pages 118-121

Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; FUMARATE HYDRATASE;

EID: 33646087686     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2005.01977.x     Document Type: Article
Times cited : (35)

References (11)
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    • Walker, R.H.1    Reed, W.B.2
  • 2
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    • Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43
    • Alam NA, Bevan S, Churchman M et al. Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet 2001; 68: 1264-9.
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  • 3
    • 0036091178 scopus 로고    scopus 로고
    • Multiple cutaneous and uterine leiomyomas: Refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43
    • Martinez-Mir A, Gordon D, Horev L et al. Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43. J Invest Dermatol 2002; 118: 876-80.
    • (2002) J Invest Dermatol , vol.118 , pp. 876-880
    • Martinez-Mir, A.1    Gordon, D.2    Horev, L.3
  • 4
    • 0034849758 scopus 로고    scopus 로고
    • Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology
    • Kiuru M, Launonen V, Hietala M et al. Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol 2001; 159: 825-9.
    • (2001) Am J Pathol , vol.159 , pp. 825-829
    • Kiuru, M.1    Launonen, V.2    Hietala, M.3
  • 5
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    • Launonen V, Vierimaa O, Kiuru M et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 2001; 98: 3387-92.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 3387-3392
    • Launonen, V.1    Vierimaa, O.2    Kiuru, M.3
  • 6
    • 13244279482 scopus 로고    scopus 로고
    • Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer
    • Chan I, Wong T, Martinez-Mir A et al. Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. Clin Exp Dermatol 2005; 30: 75-8.
    • (2005) Clin Exp Dermatol , vol.30 , pp. 75-78
    • Chan, I.1    Wong, T.2    Martinez-Mir, A.3
  • 7
    • 18544365990 scopus 로고    scopus 로고
    • Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
    • Tomlinson IP, Alam NA, Rowan AJ et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002; 30: 406-10.
    • (2002) Nat Genet , vol.30 , pp. 406-410
    • Tomlinson, I.P.1    Alam, N.A.2    Rowan, A.J.3
  • 8
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    • Germline fumarate hydratase mutation in families with multiple cutaneous and uterine leiomoyma
    • Martinez-Mir A, Glaser B, Chuang GS et al. Germline fumarate hydratase mutation in families with multiple cutaneous and uterine leiomoyma. J Invest Dermatol 2003; 121: 741-4.
    • (2003) J Invest Dermatol , vol.121 , pp. 741-744
    • Martinez-Mir, A.1    Glaser, B.2    Chuang, G.S.3
  • 9
    • 12444259659 scopus 로고    scopus 로고
    • Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
    • Alam NA, Rowan AJ, Wortham NC et al. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003; 12: 1241-52.
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    • Alam, N.A.1    Rowan, A.J.2    Wortham, N.C.3
  • 10
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    • Germline furamate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leio-myomata
    • Chuang GS, Martinez-Mir A, Geyer A et al. Germline furamate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leio-myomata. J Am Acad Dermatol 2005; 52: 410-6.
    • (2005) J Am Acad Dermatol , vol.52 , pp. 410-416
    • Chuang, G.S.1    Martinez-Mir, A.2    Geyer, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.