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Items: 1 to 20 of 99

1.

Carney Stratakis syndrome in a patient with SDHD mutation.

Tenorio Jiménez C, Izatt L, Chang F, Moonim MT, Carroll PV, McGowan BM.

Endocr Pathol. 2012 Sep;23(3):181-6. doi: 10.1007/s12022-012-9213-z. No abstract available.

PMID:
22638655
2.

Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.

Ayala-Ramirez M, Callender GG, Kupferman ME, Rich TA, Chuang HH, Trent J, Perrier ND, Goodarzi M, Jimenez C.

Nat Rev Endocrinol. 2010 Feb;6(2):110-5. doi: 10.1038/nrendo.2009.250.

PMID:
20098451
3.

SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors.

Gaal J, Stratakis CA, Carney JA, Ball ER, Korpershoek E, Lodish MB, Levy I, Xekouki P, van Nederveen FH, den Bakker MA, O'Sullivan M, Dinjens WN, de Krijger RR.

Mod Pathol. 2011 Jan;24(1):147-51. doi: 10.1038/modpathol.2010.185. Epub 2010 Oct 1.

4.

Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report.

Jové M, Mora J, Sanjuan X, Rodriguez E, Robledo M, Farran L, Garcia del Muro X.

Histopathology. 2014 Nov;65(5):712-7. doi: 10.1111/his.12506. No abstract available.

PMID:
25130709
5.

Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor.

Gasparotto D, Rossi S, Campagna D, Scavina P, Tiziano FD, Marzotto A, Toffolatti L, Vitelli CE, Amini M, Dei Tos AP, Maestro R.

J Clin Oncol. 2016 Apr 10;34(11):e99-e103. doi: 10.1200/JCO.2012.44.7300. Epub 2014 Dec 29. No abstract available.

PMID:
25547508
6.

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA, Stratakis CA.

Eur J Hum Genet. 2008 Jan;16(1):79-88. Epub 2007 Aug 1.

7.

Resection of a large carotid paraganglioma in Carney-Stratakis syndrome: a multidisciplinary feat.

Nicholas RS, Quddus A, Topham C, Baker D.

BMJ Case Rep. 2015 Apr 16;2015. pii: bcr2014208271. doi: 10.1136/bcr-2014-208271.

8.

A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad.

Celestino R, Lima J, Faustino A, Máximo V, Gouveia A, Vinagre J, Soares P, Lopes JM.

Fam Cancer. 2012 Jun;11(2):189-94. doi: 10.1007/s10689-011-9499-x.

PMID:
22160509
9.

Familial gastrointestinal stromal tumors and germ-line mutations.

McWhinney SR, Pasini B, Stratakis CA; International Carney Triad and Carney-Stratakis Syndrome Consortium.

N Engl J Med. 2007 Sep 6;357(10):1054-6. No abstract available.

10.

Nephrotic syndrome in a man with Carney-Stratakis syndrome.

Lecamwasam A, Roberts V, Hill P.

Pathology. 2015 Dec;47(7):705-7. doi: 10.1097/PAT.0000000000000336. No abstract available.

PMID:
26517646
11.

Succinate dehydrogenase-deficient tumors: diagnostic advances and clinical implications.

Barletta JA, Hornick JL.

Adv Anat Pathol. 2012 Jul;19(4):193-203. doi: 10.1097/PAP.0b013e31825c6bc6. Review.

PMID:
22692282
12.

Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.

Alrashdi I, Bano G, Maher ER, Hodgson SV.

Fam Cancer. 2010 Sep;9(3):443-7. doi: 10.1007/s10689-010-9323-z.

PMID:
20119652
13.

Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

Gimm O, Armanios M, Dziema H, Neumann HP, Eng C.

Cancer Res. 2000 Dec 15;60(24):6822-5.

14.

Paraganglioma in a 13-year-old girl: a novel SDHB gene mutation in the family?

Musil Z, Puchmajerová A, Krepelová A, Vícha A, Panczak A, Veselá J, Widimský J, Turková H, Lisý J, Kohoutová M.

Cancer Genet Cytogenet. 2010 Mar;197(2):189-92. doi: 10.1016/j.cancergencyto.2009.11.010. No abstract available.

PMID:
20193854
15.

L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paraganglioma.

Sato H, Kanai G, Hirabayshi K, Kajiwara H, Itoh J, Osamura RY.

Endocrine. 2010 Aug;38(1):18-23. doi: 10.1007/s12020-010-9365-x. Epub 2010 Jul 8.

PMID:
20960097
16.

Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.

Matyakhina L, Bei TA, McWhinney SR, Pasini B, Cameron S, Gunawan B, Stergiopoulos SG, Boikos S, Muchow M, Dutra A, Pak E, Campo E, Cid MC, Gomez F, Gaillard RC, Assie G, Füzesi L, Baysal BE, Eng C, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2007 Aug;92(8):2938-43. Epub 2007 May 29.

PMID:
17535989
17.

Bronchial Paraganglioma with SDHB Deficiency.

Ghigna MR, Dorfmuller P, Crutu A, Fadel E, de Montpréville VT.

Endocr Pathol. 2016 Dec;27(4):332-337.

PMID:
26895210
18.

Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1.

Leidenz FB, Bastos-Rodrigues L, Oliveira M, Mamede M, Sarquis M, Friedman E, de Marco L.

Genet Res (Camb). 2015 Mar 30;97:e3. doi: 10.1017/S0016672315000063.

PMID:
25819804
19.

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.

Heesterman BL, Bayley JP, Tops CM, Hes FJ, van Brussel BT, Corssmit EP, Hamming JF, van der Mey AG, Jansen JC.

Eur J Hum Genet. 2013 Apr;21(4):469-70. doi: 10.1038/ejhg.2012.203. Epub 2012 Sep 5.

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