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Items: 1 to 20 of 101

1.

Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Nicolas E, Demidova EV, Iqbal W, Serebriiskii IG, Vlasenkova R, Ghatalia P, Zhou Y, Rainey K, Forman AF, Dunbrack RL Jr, Golemis EA, Hall MJ, Daly MB, Arora S.

Mol Genet Genomic Med. 2019 Mar;7(3):e556. doi: 10.1002/mgg3.556. Epub 2019 Jan 24.

2.

Renal carcinoma associated with a novel succinate dehydrogenase A mutation: a case report and review of literature of a rare subtype of renal carcinoma.

Ozluk Y, Taheri D, Matoso A, Sanli O, Berker NK, Yakirevich E, Balasubramanian S, Ross JS, Ali SM, Netto GJ.

Hum Pathol. 2015 Dec;46(12):1951-5. doi: 10.1016/j.humpath.2015.07.027. Epub 2015 Sep 5. Review.

PMID:
26476567
3.

Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.

Ricketts CJ, Shuch B, Vocke CD, Metwalli AR, Bratslavsky G, Middelton L, Yang Y, Wei MH, Pautler SE, Peterson J, Stolle CA, Zbar B, Merino MJ, Schmidt LS, Pinto PA, Srinivasan R, Pacak K, Linehan WM.

J Urol. 2012 Dec;188(6):2063-71. doi: 10.1016/j.juro.2012.08.030. Epub 2012 Oct 18.

4.

Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

Miettinen M, Killian JK, Wang ZF, Lasota J, Lau C, Jones L, Walker R, Pineda M, Zhu YJ, Kim SY, Helman L, Meltzer P.

Am J Surg Pathol. 2013 Feb;37(2):234-40. doi: 10.1097/PAS.0b013e3182671178.

5.

A Novel SDHA-deficient Renal Cell Carcinoma Revealed by Comprehensive Genomic Profiling.

Yakirevich E, Ali SM, Mega A, McMahon C, Brodsky AS, Ross JS, Allen J, Elvin JA, Safran H, Resnick MB.

Am J Surg Pathol. 2015 Jun;39(6):858-63. doi: 10.1097/PAS.0000000000000403.

PMID:
25724004
6.

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW.

J Med Genet. 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.

7.

Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation.

Iwashita H, Okudela K, Matsumura M, Yamanaka S, Sawazumi T, Enaka M, Udaka N, Miyake A, Hibiya T, Miyake N, Matsumoto N, Makiyama K, Yao M, Nagashima Y, Ohashi K.

Pathol Int. 2017 Nov;67(11):585-589. doi: 10.1111/pin.12587. Epub 2017 Sep 28.

PMID:
28960644
8.

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peçzkowska M, Morrison CD, Lehtonen R, Januszewicz A, Järvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C.

Am J Hum Genet. 2004 Jan;74(1):153-9. Epub 2003 Dec 18.

9.

Review of succinate dehydrogenase-deficient renal cell carcinoma with focus on clinical and pathobiological aspects.

Kuroda N, Yorita K, Nagasaki M, Harada Y, Ohe C, Jeruc J, Raspollini MR, Michal M, Hes O, Amin MB.

Pol J Pathol. 2016 Mar;67(1):3-7. Review.

10.

Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation.

Santi R, Rapizzi E, Canu L, Ercolino T, Baroni G, Fucci R, Costa G, Mannelli M, Nesi G.

Anticancer Res. 2017 Feb;37(2):805-812.

PMID:
28179334
11.

Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma.

Williamson SR, Eble JN, Amin MB, Gupta NS, Smith SC, Sholl LM, Montironi R, Hirsch MS, Hornick JL.

Mod Pathol. 2015 Jan;28(1):80-94. doi: 10.1038/modpathol.2014.86. Epub 2014 Jul 18.

12.

Primary Renal Paragangliomas and Renal Neoplasia Associated with Pheochromocytoma/Paraganglioma: Analysis of von Hippel-Lindau (VHL), Succinate Dehydrogenase (SDHX) and Transmembrane Protein 127 (TMEM127).

Gupta S, Zhang J, Milosevic D, Mills JR, Grebe SK, Smith SC, Erickson LA.

Endocr Pathol. 2017 Sep;28(3):253-268. doi: 10.1007/s12022-017-9489-0.

PMID:
28646318
13.

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

Pantaleo MA, Astolfi A, Urbini M, Nannini M, Paterini P, Indio V, Saponara M, Formica S, Ceccarelli C, Casadio R, Rossi G, Bertolini F, Santini D, Pirini MG, Fiorentino M, Basso U, Biasco G; GIST Study Group.

Eur J Hum Genet. 2014 Jan;22(1):32-9. doi: 10.1038/ejhg.2013.80. Epub 2013 Apr 24.

14.

Succinate Dehydrogenase-Deficient Renal Cell Carcinoma: A Short Review.

Wang G, Rao P.

Arch Pathol Lab Med. 2018 Oct;142(10):1284-1288. doi: 10.5858/arpa.2017-0199-RS. Review.

PMID:
30281364
15.

Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.

Dwight T, Benn DE, Clarkson A, Vilain R, Lipton L, Robinson BG, Clifton-Bligh RJ, Gill AJ.

Am J Surg Pathol. 2013 Feb;37(2):226-33. doi: 10.1097/PAS.0b013e3182671155.

PMID:
23060355
16.

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C.

Am J Hum Genet. 2008 Aug;83(2):261-8. doi: 10.1016/j.ajhg.2008.07.011.

17.

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

Papathomas TG, Gaal J, Corssmit EP, Oudijk L, Korpershoek E, Heimdal K, Bayley JP, Morreau H, van Dooren M, Papaspyrou K, Schreiner T, Hansen T, Andresen PA, Restuccia DF, van Kessel I, van Leenders GJ, Kros JM, Looijenga LH, Hofland LJ, Mann W, van Nederveen FH, Mete O, Asa SL, de Krijger RR, Dinjens WN.

Eur J Endocrinol. 2013 Nov 22;170(1):1-12. doi: 10.1530/EJE-13-0623. Print 2014 Jan.

PMID:
24096523
18.

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

Janeway KA, Kim SY, Lodish M, Nosé V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic, O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA.

Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):314-8. doi: 10.1073/pnas.1009199108. Epub 2010 Dec 20.

19.

SDH-deficient renal cell carcinoma - clinical, pathologic and genetic correlates: a case report.

Kumar R, Bonert M, Naqvi A, Zbuk K, Kapoor A.

BMC Urol. 2018 Nov 27;18(1):109. doi: 10.1186/s12894-018-0422-8.

20.

Germline SDHB mutations and familial renal cell carcinoma.

Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER.

J Natl Cancer Inst. 2008 Sep 3;100(17):1260-2. doi: 10.1093/jnci/djn254. Epub 2008 Aug 26.

PMID:
18728283

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