Hereditary leiomyomatosis and renal cell cancer syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Hereditary leiomyomatosis and renal cell cancer syndrome" in English language version.

refsWebsite

Global rank English rank

26nih.gov

4^th place

17doi.org

2^nd place

6semanticscholar.org

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1rarediseases.org

5,181^st place

3,260^th place

1harvard.edu

18^th place

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doi.org

Tolvanen J, Uimari O, Ryynänen M, Aaltonen LA, Vahteristo P (June 2012). "Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening". Human Reproduction. 27 (6): 1865–1869. doi:10.1093/humrep/des105. PMID 22473397.
Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, et al. (July 2003). "Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America". American Journal of Human Genetics. 73 (1): 95–106. doi:10.1086/376435. PMC 1180594. PMID 12772087.
Garg K, Tickoo SK, Soslow RA, Reuter VE (August 2011). "Morphologic features of uterine leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report". The American Journal of Surgical Pathology. 35 (8): 1235–1237. doi:10.1097/PAS.0b013e318223ca01. PMID 21753700. S2CID 1342593.
Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, et al. (December 2014). "Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment". Familial Cancer. 13 (4): 637–644. doi:10.1007/s10689-014-9735-2. PMC 4574691. PMID 25012257.
Campione E, Terrinoni A, Orlandi A, Codispoti A, Melino G, Bianchi L, et al. (September 2007). "Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene". The Journal of Investigative Dermatology. 127 (9): 2271–2273. doi:10.1038/sj.jid.5700851. PMID 17476294.
Matyakhina L, Freedman RJ, Bourdeau I, Wei MH, Stergiopoulos SG, Chidakel A, et al. (June 2005). "Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation". The Journal of Clinical Endocrinology and Metabolism. 90 (6): 3773–3779. doi:10.1210/jc.2004-2377. PMID 15741255.
Marque M, Gardie B, Bressac de Paillerets B, Rustin P, Guillot B, Richard S, et al. (December 2010). "Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease". The British Journal of Dermatology. 163 (6): 1337–1339. doi:10.1111/j.1365-2133.2010.09912.x. PMID 20560959. S2CID 32673334.
Ylisaukko-oja SK, Cybulski C, Lehtonen R, Kiuru M, Matyjasik J, Szymañska A, et al. (July 2006). "Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma". European Journal of Human Genetics. 14 (7): 880–883. doi:10.1038/sj.ejhg.5201630. PMID 16639410.
Ooi A, Wong JC, Petillo D, Roossien D, Perrier-Trudova V, Whitten D, et al. (October 2011). "An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma". Cancer Cell. 20 (4): 511–523. doi:10.1016/j.ccr.2011.08.024. PMID 22014576.
Yogev O, Yogev O, Singer E, Shaulian E, Goldberg M, Fox TD, et al. (March 2010). Elledge S (ed.). "Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response". PLOS Biology. 8 (3): e1000328. doi:10.1371/journal.pbio.1000328. PMC 2834712. PMID 20231875.
Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, et al. (August 2011). "Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase". Nature. 477 (7363): 225–228. Bibcode:2011Natur.477..225F. doi:10.1038/nature10363. PMID 21849978. S2CID 4397075.
Kinch L, Grishin NV, Brugarolas J (October 2011). "Succination of Keap1 and activation of Nrf2-dependent antioxidant pathways in FH-deficient papillary renal cell carcinoma type 2". Cancer Cell. 20 (4): 418–420. doi:10.1016/j.ccr.2011.10.005. PMC 3226726. PMID 22014567.
Hsu T, Cornelius LA, Rosman IS, Nemer KM (September 2017). "Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome)". JAAD Case Reports. 3 (5): 407–409. doi:10.1016/j.jdcr.2017.06.007. PMC 5581856. PMID 28884140.
Laber DA (2006). "Risk factors, classification, and staging of renal cell cancer". Medical Oncology. 23 (4): 443–454. doi:10.1385/MO:23:4:443. PMID 17303902. S2CID 40025455.
Reed WB, Walker R, Horowitz R (1973). "Cutaneous leiomyomata with uterine leiomyomata". Acta Dermato-Venereologica. 53 (5): 409–416. doi:10.2340/0001555553409416. PMID 4127477. S2CID 34376892.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, et al. (April 2002). "Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer". Nature Genetics. 30 (4): 406–410. doi:10.1038/ng849. PMID 11865300. S2CID 9756355.
Bayley JP, Launonen V, Tomlinson IP (March 2008). "The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency". BMC Medical Genetics. 9: 20. doi:10.1186/1471-2350-9-20. PMC 2322961. PMID 18366737.

harvard.edu

ui.adsabs.harvard.edu

Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, et al. (August 2011). "Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase". Nature. 477 (7363): 225–228. Bibcode:2011Natur.477..225F. doi:10.1038/nature10363. PMID 21849978. S2CID 4397075.

nih.gov

pubmed.ncbi.nlm.nih.gov

Tolvanen J, Uimari O, Ryynänen M, Aaltonen LA, Vahteristo P (June 2012). "Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening". Human Reproduction. 27 (6): 1865–1869. doi:10.1093/humrep/des105. PMID 22473397.
Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, et al. (July 2003). "Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America". American Journal of Human Genetics. 73 (1): 95–106. doi:10.1086/376435. PMC 1180594. PMID 12772087.
Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, et al. (2010) [2006]. Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K (eds.). "Hereditary Leiomyomatosis and Renal Cell Cancer". GeneReviews. PMID 20301430.
Garg K, Tickoo SK, Soslow RA, Reuter VE (August 2011). "Morphologic features of uterine leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report". The American Journal of Surgical Pathology. 35 (8): 1235–1237. doi:10.1097/PAS.0b013e318223ca01. PMID 21753700. S2CID 1342593.
Kogan EA, Mikhaĭlov OI, Sekamova SM, Kornev BM, Osipova IN, Osipenko VI, et al. (2001). "[Combination of pulmonary lymphangioleiomyomatosis with skin leiomyomatosis and uterine leiomyoma]". Arkhiv Patologii. 63 (6): 39–44. PMID 11810925.
Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, et al. (December 2014). "Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment". Familial Cancer. 13 (4): 637–644. doi:10.1007/s10689-014-9735-2. PMC 4574691. PMID 25012257.
Campione E, Terrinoni A, Orlandi A, Codispoti A, Melino G, Bianchi L, et al. (September 2007). "Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene". The Journal of Investigative Dermatology. 127 (9): 2271–2273. doi:10.1038/sj.jid.5700851. PMID 17476294.
Matyakhina L, Freedman RJ, Bourdeau I, Wei MH, Stergiopoulos SG, Chidakel A, et al. (June 2005). "Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation". The Journal of Clinical Endocrinology and Metabolism. 90 (6): 3773–3779. doi:10.1210/jc.2004-2377. PMID 15741255.
Marque M, Gardie B, Bressac de Paillerets B, Rustin P, Guillot B, Richard S, et al. (December 2010). "Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease". The British Journal of Dermatology. 163 (6): 1337–1339. doi:10.1111/j.1365-2133.2010.09912.x. PMID 20560959. S2CID 32673334.
Ylisaukko-oja SK, Cybulski C, Lehtonen R, Kiuru M, Matyjasik J, Szymañska A, et al. (July 2006). "Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma". European Journal of Human Genetics. 14 (7): 880–883. doi:10.1038/sj.ejhg.5201630. PMID 16639410.
Ooi A, Wong JC, Petillo D, Roossien D, Perrier-Trudova V, Whitten D, et al. (October 2011). "An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma". Cancer Cell. 20 (4): 511–523. doi:10.1016/j.ccr.2011.08.024. PMID 22014576.
Yogev O, Yogev O, Singer E, Shaulian E, Goldberg M, Fox TD, et al. (March 2010). Elledge S (ed.). "Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response". PLOS Biology. 8 (3): e1000328. doi:10.1371/journal.pbio.1000328. PMC 2834712. PMID 20231875.
Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, et al. (August 2011). "Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase". Nature. 477 (7363): 225–228. Bibcode:2011Natur.477..225F. doi:10.1038/nature10363. PMID 21849978. S2CID 4397075.
Kinch L, Grishin NV, Brugarolas J (October 2011). "Succination of Keap1 and activation of Nrf2-dependent antioxidant pathways in FH-deficient papillary renal cell carcinoma type 2". Cancer Cell. 20 (4): 418–420. doi:10.1016/j.ccr.2011.10.005. PMC 3226726. PMID 22014567.
Hsu T, Cornelius LA, Rosman IS, Nemer KM (September 2017). "Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome)". JAAD Case Reports. 3 (5): 407–409. doi:10.1016/j.jdcr.2017.06.007. PMC 5581856. PMID 28884140.
Laber DA (2006). "Risk factors, classification, and staging of renal cell cancer". Medical Oncology. 23 (4): 443–454. doi:10.1385/MO:23:4:443. PMID 17303902. S2CID 40025455.
Reed WB, Walker R, Horowitz R (1973). "Cutaneous leiomyomata with uterine leiomyomata". Acta Dermato-Venereologica. 53 (5): 409–416. doi:10.2340/0001555553409416. PMID 4127477. S2CID 34376892.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, et al. (April 2002). "Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer". Nature Genetics. 30 (4): 406–410. doi:10.1038/ng849. PMID 11865300. S2CID 9756355.
Bayley JP, Launonen V, Tomlinson IP (March 2008). "The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency". BMC Medical Genetics. 9: 20. doi:10.1186/1471-2350-9-20. PMC 2322961. PMID 18366737.

ncbi.nlm.nih.gov

Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, et al. (July 2003). "Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America". American Journal of Human Genetics. 73 (1): 95–106. doi:10.1086/376435. PMC 1180594. PMID 12772087.
Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, et al. (December 2014). "Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment". Familial Cancer. 13 (4): 637–644. doi:10.1007/s10689-014-9735-2. PMC 4574691. PMID 25012257.
Yogev O, Yogev O, Singer E, Shaulian E, Goldberg M, Fox TD, et al. (March 2010). Elledge S (ed.). "Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response". PLOS Biology. 8 (3): e1000328. doi:10.1371/journal.pbio.1000328. PMC 2834712. PMID 20231875.
Kinch L, Grishin NV, Brugarolas J (October 2011). "Succination of Keap1 and activation of Nrf2-dependent antioxidant pathways in FH-deficient papillary renal cell carcinoma type 2". Cancer Cell. 20 (4): 418–420. doi:10.1016/j.ccr.2011.10.005. PMC 3226726. PMID 22014567.
Hsu T, Cornelius LA, Rosman IS, Nemer KM (September 2017). "Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome)". JAAD Case Reports. 3 (5): 407–409. doi:10.1016/j.jdcr.2017.06.007. PMC 5581856. PMID 28884140.
Bayley JP, Launonen V, Tomlinson IP (March 2008). "The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency". BMC Medical Genetics. 9: 20. doi:10.1186/1471-2350-9-20. PMC 2322961. PMID 18366737.

ghr.nlm.nih.gov

"Hereditary leiomyomatosis and renal cell cancer (HLRCC)". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 8 April 2019.

rarediseases.org

"Hereditary Leiomyomatosis and Renal Cell Carcinoma". NORD (National Organization for Rare Disorders). Retrieved 8 April 2019.

semanticscholar.org

api.semanticscholar.org

Garg K, Tickoo SK, Soslow RA, Reuter VE (August 2011). "Morphologic features of uterine leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report". The American Journal of Surgical Pathology. 35 (8): 1235–1237. doi:10.1097/PAS.0b013e318223ca01. PMID 21753700. S2CID 1342593.
Marque M, Gardie B, Bressac de Paillerets B, Rustin P, Guillot B, Richard S, et al. (December 2010). "Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease". The British Journal of Dermatology. 163 (6): 1337–1339. doi:10.1111/j.1365-2133.2010.09912.x. PMID 20560959. S2CID 32673334.
Frezza C, Zheng L, Folger O, Rajagopalan KN, MacKenzie ED, Jerby L, et al. (August 2011). "Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase". Nature. 477 (7363): 225–228. Bibcode:2011Natur.477..225F. doi:10.1038/nature10363. PMID 21849978. S2CID 4397075.
Laber DA (2006). "Risk factors, classification, and staging of renal cell cancer". Medical Oncology. 23 (4): 443–454. doi:10.1385/MO:23:4:443. PMID 17303902. S2CID 40025455.
Reed WB, Walker R, Horowitz R (1973). "Cutaneous leiomyomata with uterine leiomyomata". Acta Dermato-Venereologica. 53 (5): 409–416. doi:10.2340/0001555553409416. PMID 4127477. S2CID 34376892.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, et al. (April 2002). "Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer". Nature Genetics. 30 (4): 406–410. doi:10.1038/ng849. PMID 11865300. S2CID 9756355.