155 related articles for article (PubMed ID: 16881969)
1. Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
Badeloe S; van Geel M; van Steensel MA; Bastida J; Ferrando J; Steijlen PM; Frank J; Poblete-Gutiérrez P
Exp Dermatol; 2006 Sep; 15(9):735-41. PubMed ID: 16881969
[TBL] [Abstract][Full Text] [Related]
2. 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; Pollard PJ; Mitchell M; Tyrer JP; Barclay E; Calonje E; Manek S; Adams SJ; Bowers PW; Burrows NP; Charles-Holmes R; Cook LJ; Daly BM; Ford GP; Fuller LC; Hadfield-Jones SE; Hardwick N; Highet AS; Keefe M; MacDonald-Hull SP; Potts ED; Crone M; Wilkinson S; Camacho-Martinez F; Jablonska S; Ratnavel R; MacDonald A; Mann RJ; Grice K; Guillet G; Lewis-Jones MS; McGrath H; Seukeran DC; Morrison PJ; Fleming S; Rahman S; Kelsell D; Leigh I; Olpin S; Tomlinson IP
Hum Mol Genet; 2003 Jun; 12(11):1241-52. PubMed ID: 12761039
[TBL] [Abstract][Full Text] [Related]
3. Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Alam NA; Olpin S; Rowan A; Kelsell D; Leigh IM; Tomlinson IP; Weaver T
J Mol Diagn; 2005 Oct; 7(4):437-43. PubMed ID: 16237213
[TBL] [Abstract][Full Text] [Related]
4. 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
BMC Med Genet; 2008 Mar; 9():20. PubMed ID: 18366737
[TBL] [Abstract][Full Text] [Related]
5. A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).
Rongioletti F; Fausti V; Ferrando B; Parodi A; Mandich P; Pasini B
Dermatology; 2010; 221(4):378-80. PubMed ID: 21051878
[TBL] [Abstract][Full Text] [Related]
6. Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis.
Badeloe S; Frank J
Eur J Dermatol; 2009; 19(6):545-51. PubMed ID: 19939761
[TBL] [Abstract][Full Text] [Related]
7. Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
Liu C; Dillon J; Beavis AL; Liu Y; Lombardo K; Fader AN; Hung CF; Wu TC; Vang R; Garcia JE; Xing D
Histopathology; 2020 Feb; 76(3):354-365. PubMed ID: 31564060
[TBL] [Abstract][Full Text] [Related]
8. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome.
Alam NA; Barclay E; Rowan AJ; Tyrer JP; Calonje E; Manek S; Kelsell D; Leigh I; Olpin S; Tomlinson IP
Arch Dermatol; 2005 Feb; 141(2):199-206. PubMed ID: 15724016
[TBL] [Abstract][Full Text] [Related]
9. Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Gunnala V; Pereira N; Irani M; Lilienthal D; Pirog EC; Soslow R; Caputo TA; Elias R; Kligman I; Rosenwaks Z
Int J Gynecol Pathol; 2018 May; 37(3):256-261. PubMed ID: 28700432
[TBL] [Abstract][Full Text] [Related]
10. Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.
Parmentier L; Tomlinson I; Happle R; Borradori L
Dermatology; 2010; 221(2):149-53. PubMed ID: 20628236
[TBL] [Abstract][Full Text] [Related]
11. [From gene to disease; cutaneous leiomyomatosis].
Badeloe S; van Geel M; van Steensel MA; Steijlen PM; Poblete-Gutiérrez P; Frank JA
Ned Tijdschr Geneeskd; 2007 Feb; 151(5):300-4. PubMed ID: 17326474
[TBL] [Abstract][Full Text] [Related]
12. Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.
Alam NA; Olpin S; Leigh IM
Br J Dermatol; 2005 Jul; 153(1):11-7. PubMed ID: 16029320
[TBL] [Abstract][Full Text] [Related]
13. Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Rabban JT; Chan E; Mak J; Zaloudek C; Garg K
Am J Surg Pathol; 2019 May; 43(5):639-655. PubMed ID: 30741757
[TBL] [Abstract][Full Text] [Related]
14. Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
Shuch B; Li S; Risch H; Bindra RS; McGillivray PD; Gerstein M
Cancer; 2020 Aug; 126(16):3657-3666. PubMed ID: 32413184
[TBL] [Abstract][Full Text] [Related]
15. Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Wheeler KC; Warr DJ; Warsetsky SI; Barmat LI
Fertil Steril; 2016 Jan; 105(1):144-8. PubMed ID: 26493120
[TBL] [Abstract][Full Text] [Related]
16. Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Crooks DR; Cawthon GM; Fitzsimmons CM; Perez M; Ricketts CJ; Vocke CD; Yang Y; Middelton L; Nielsen D; Schmidt LS; Tandon M; Merino MJ; Ball MW; Meier JL; Batista PJ; Linehan WM
Hum Mol Genet; 2023 Nov; 32(22):3135-3145. PubMed ID: 37561409
[TBL] [Abstract][Full Text] [Related]
17. A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Bhola PT; Gilpin C; Smith A; Graham GE
Fam Cancer; 2018 Oct; 17(4):615-620. PubMed ID: 29423582
[TBL] [Abstract][Full Text] [Related]
18. Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.
Barker KT; Bevan S; Wang R; Lu YJ; Flanagan AM; Bridge JA; Fisher C; Finlayson CJ; Shipley J; Houlston RS
Br J Cancer; 2002 Aug; 87(4):446-8. PubMed ID: 12177782
[TBL] [Abstract][Full Text] [Related]
19. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL; Mensenkamp AR; Badeloe S; Breuning MH; Simon ME; van Spaendonck KY; Aalfs CM; Post JG; Shanley S; Krapels IP; Hoefsloot LH; van Moorselaar RJ; Starink TM; Bayley JP; Frank J; van Steensel MA; Menko FH
Clin Genet; 2011 Jan; 79(1):49-59. PubMed ID: 20618355
[TBL] [Abstract][Full Text] [Related]
20. Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Harrison WJ; Andrici J; Maclean F; Madadi-Ghahan R; Farzin M; Sioson L; Toon CW; Clarkson A; Watson N; Pickett J; Field M; Crook A; Tucker K; Goodwin A; Anderson L; Srinivasan B; Grossmann P; Martinek P; Ondič O; Hes O; Trpkov K; Clifton-Bligh RJ; Dwight T; Gill AJ
Am J Surg Pathol; 2016 May; 40(5):599-607. PubMed ID: 26574848
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]