메뉴 건너뛰기




Volumn 221, Issue 4, 2010, Pages 378-380

A novel missense mutation in fumarate hydratase in an italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome)

Author keywords

Cutaneous leiomyomatosis; Fumarate hydratase; Reed's syndrome

Indexed keywords

DNA; FUMARATE HYDRATASE;

EID: 78650973738     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000321336     Document Type: Article
Times cited : (15)

References (12)
  • 1
    • 73249150523 scopus 로고    scopus 로고
    • Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis
    • Badeloe S, Frank J: Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis. Eur J Dermatol 2009; 19: 545-551.
    • (2009) Eur J Dermatol , vol.19 , pp. 545-551
    • Badeloe, S.1    Frank, J.2
  • 2
    • 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: 406-410.
    • (2002) Nat Genet , vol.30 , pp. 406-410
    • Tomlinson, I.P.1    Alam, N.A.2    Rowan, A.J.3
  • 3
    • 44949260958 scopus 로고    scopus 로고
    • Incidence, aetiology and epidemiology of uterine fibroids
    • Okolo S: Incidence, aetiology and epidemiology of uterine fibroids. Best Pract Res Clin Obstet Gynaecol 2008; 22: 571-588.
    • (2008) Best Pract Res Clin Obstet Gynaecol , vol.22 , pp. 571-588
    • Okolo, S.1
  • 4
    • 34047103477 scopus 로고    scopus 로고
    • Hereditary leiomyomatosis and renal cell cancer: An unusual and aggressive form of hereditary renal carcinoma
    • Refae MA, Wong N, Patenaude F, et al: Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. Nat Clin Pract Oncol 2007; 4: 256-261.
    • (2007) Nat Clin Pract Oncol , vol.4 , pp. 256-261
    • Refae, M.A.1    Wong, N.2    Patenaude, F.3
  • 5
    • 33646087686 scopus 로고    scopus 로고
    • Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene
    • Chuang GS, Martinez-Mir A, Engler DE, et al: Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene. Clin Exp Dermatol 2006; 31: 118-121.
    • (2006) Clin Exp Dermatol , vol.31 , pp. 118-121
    • Chuang, G.S.1    Martinez-Mir, A.2    Engler, D.E.3
  • 6
    • 22944469759 scopus 로고    scopus 로고
    • Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer
    • Alam NA, Olpin S, Leigh IM: Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. Br J Dermatol 2005; 153: 11-17.
    • (2005) Br J Dermatol , vol.153 , pp. 11-17
    • Alam, N.A.1    Olpin, S.2    Leigh, I.M.3
  • 7
    • 42449137948 scopus 로고    scopus 로고
    • The FH mutation database: An online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency
    • Bayley JP, Launonen V, Tomlinson IP: The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 2008; 25: 9-20.
    • (2008) BMC Med Genet , vol.25 , pp. 9-20
    • Bayley, J.P.1    Launonen, V.2    Tomlinson, I.P.3
  • 8
    • 78650996949 scopus 로고    scopus 로고
    • http://chromium.liacs.nl/LOVD2/SDH/home.php?select-db=FH.
  • 9
    • 77956339887 scopus 로고    scopus 로고
    • Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis
    • Parmentier L, Tomlinson I, Happle R, Borradori L: Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis. Dermatology 2010; 221: 149-153.
    • (2010) Dermatology , vol.221 , pp. 149-153
    • Parmentier, L.1    Tomlinson, I.2    Happle, R.3    Borradori, L.4
  • 10
    • 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: 75-78.
    • (2005) Clin Exp Dermatol , vol.30 , pp. 75-78
    • Chan, I.1    Wong, T.2    Martinez-Mir, A.3
  • 11
    • 34748836454 scopus 로고    scopus 로고
    • The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome
    • Merino MJ, Torres-Cabala C, Pinto P, et al: The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol 2007; 31: 1578-1585.
    • (2007) Am J Surg Pathol , vol.31 , pp. 1578-1585
    • Merino, M.J.1    Torres-Cabala, C.2    Pinto, P.3
  • 12
    • 34147117259 scopus 로고    scopus 로고
    • Conventional renal cancer in a patient with fumarate hydratase mutation
    • Lehtonen HJ, Blanco I, Piulats JM, et al: Conventional renal cancer in a patient with fumarate hydratase mutation. Hum Pathol 2007; 38: 793-796.
    • (2007) Hum Pathol , vol.38 , pp. 793-796
    • Lehtonen, H.J.1    Blanco, I.2    Piulats, J.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.