28492532 12618761 14500403 15328326 16314641 17102082 18362451 23083876 23282968 22835832 25972245 26719882[uid] - Search Results

Year	Number of Results
2003	2
2004	1
2005	1
2006	1
2008	1
2012	2
2013	1
2015	1
2016	1
2017	1
2024	0

1

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.

2

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

Benn DE, Croxson MS, Tucker K, Bambach CP, Richardson AL, Delbridge L, Pullan PT, Hammond J, Marsh DJ, Robinson BG. Benn DE, et al. Oncogene. 2003 Mar 6;22(9):1358-64. doi: 10.1038/sj.onc.1206300. Oncogene. 2003. PMID: 12618761

3

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network. Gimenez-Roqueplo AP, et al. Cancer Res. 2003 Sep 1;63(17):5615-21. Cancer Res. 2003. PMID: 14500403

4

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C; European-American Paraganglioma Study Group. Neumann HP, et al. JAMA. 2004 Aug 25;292(8):943-51. doi: 10.1001/jama.292.8.943. JAMA. 2004. PMID: 15328326

5

Genetic testing in pheochromocytoma or functional paraganglioma.

Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Amar L, et al. J Clin Oncol. 2005 Dec 1;23(34):8812-8. doi: 10.1200/JCO.2005.03.1484. J Clin Oncol. 2005. PMID: 16314641

6

Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

Castellano M, Mori L, Giacchè M, Agliozzo E, Tosini R, Panarotto A, Cappelli C, Mulatero P, Cumetti D, Veglio F, Agabiti-Rosei E. Castellano M, et al. Ann N Y Acad Sci. 2006 Aug;1073:156-65. doi: 10.1196/annals.1353.016. Ann N Y Acad Sci. 2006. PMID: 17102082 Free article.

7

R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis.

Takekoshi K, Isobe K, Suzuki H, Nissato S, Kawakami Y, Kawai K, Yamada N. Takekoshi K, et al. Endocr J. 2008 May;55(2):299-303. doi: 10.1507/endocrj.k07-087. Epub 2008 Mar 25. Endocr J. 2008. PMID: 18362451 Free article.

8

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. Ricketts CJ, et al. J Urol. 2012 Dec;188(6):2063-71. doi: 10.1016/j.juro.2012.08.030. Epub 2012 Oct 18. J Urol. 2012. PMID: 23083876 Free PMC article.

9

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. Miettinen M, et al. Am J Surg Pathol. 2013 Feb;37(2):234-40. doi: 10.1097/PAS.0b013e3182671178. Am J Surg Pathol. 2013. PMID: 23282968 Free PMC article.

10

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

Yang C, Matro JC, Huntoon KM, Ye DY, Huynh TT, Fliedner SM, Breza J, Zhuang Z, Pacak K. Yang C, et al. FASEB J. 2012 Nov;26(11):4506-16. doi: 10.1096/fj.12-210146. Epub 2012 Jul 26. FASEB J. 2012. PMID: 22835832 Free PMC article.

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