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    Results: 1 to 20 of 37

    1.

    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.

    PMID:
    23282968
    [PubMed - indexed for MEDLINE]
    2.

    Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators.

    Gimenez-Roqueplo AP, Caumont-Prim A, Houzard C, Hignette C, Hernigou A, Halimi P, Niccoli P, Leboulleux S, Amar L, Borson-Chazot F, Cardot-Bauters C, Delemer B, Chabolle F, Coupier I, Libé R, Peitzsch M, Peyrard S, Tenenbaum F, Plouin PF, Chatellier G, Rohmer V.

    J Clin Endocrinol Metab. 2013 Jan;98(1):E162-73. doi: 10.1210/jc.2012-2975. Epub 2012 Nov 15.

    PMID:
    23162105
    [PubMed - indexed for MEDLINE]
    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.

    PMID:
    23083876
    [PubMed - indexed for MEDLINE]
    4.

    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
    [PubMed - indexed for MEDLINE]
    5.

    Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.

    Welander J, Larsson C, Bäckdahl M, Hareni N, Sivlér T, Brauckhoff M, Söderkvist P, Gimm O.

    Hum Mol Genet. 2012 Dec 15;21(26):5406-16. doi: 10.1093/hmg/dds402. Epub 2012 Sep 24.

    PMID:
    23010473
    [PubMed - indexed for MEDLINE]
    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.

    PMID:
    22972948
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

    Burnichon N, Buffet A, Parfait B, Letouzé E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J, Amar L, Vidaud D, Favier J, Gimenez-Roqueplo AP.

    Hum Mol Genet. 2012 Dec 15;21(26):5397-405. doi: 10.1093/hmg/dds374. Epub 2012 Sep 6.

    PMID:
    22962301
    [PubMed - indexed for MEDLINE]
    8.

    Long-delayed localization of a cardiac functional paraganglioma with SDHC mutation.

    Illouz F, Pinaud F, De Brux JL, Mirebeau-Prunier D, Rodien P.

    Ann Intern Med. 2012 Aug 7;157(3):222-3. doi: 10.7326/0003-4819-157-3-201208070-00026. No abstract available. Erratum in: Ann Intern Med. 2012 Nov 6;157(9):680.

    PMID:
    22868853
    [PubMed - indexed for MEDLINE]
    9.

    Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

    Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

    Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    PMID:
    22703879
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Head and neck paragangliomas: clinical and molecular genetic classification.

    Offergeld C, Brase C, Yaremchuk S, Mader I, Rischke HC, Gläsker S, Schmid KW, Wiech T, Preuss SF, Suárez C, Kopeć T, Patocs A, Wohllk N, Malekpour M, Boedeker CC, Neumann HP.

    Clinics (Sao Paulo). 2012;67 Suppl 1:19-28. Review.

    PMID:
    22584701
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma.

    Weber A, Hoffmann MM, Neumann HP, Erlic Z.

    Horm Cancer. 2012 Aug;3(4):187-92. doi: 10.1007/s12672-012-0113-y. Epub 2012 May 10.

    PMID:
    22573489
    [PubMed - indexed for MEDLINE]
    12.

    Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium: an update.

    Persu A, Lannoy N, Maiter D, Mendola A, Montigny P, Oriot P, Vinck W, Garin P, Hamoir M, Vikkula M.

    Horm Metab Res. 2012 May;44(5):349-53. doi: 10.1055/s-0032-1311610. Epub 2012 May 7.

    PMID:
    22566194
    [PubMed - indexed for MEDLINE]
    13.

    Genetic and clinical characteristics of head and neck paragangliomas in a Chinese population.

    Zheng X, Wei S, Yu Y, Xia T, Zhao J, Gao S, Li Y, Gao M.

    Laryngoscope. 2012 Aug;122(8):1761-6. doi: 10.1002/lary.23360. Epub 2012 May 7.

    PMID:
    22566157
    [PubMed - indexed for MEDLINE]
    14.

    Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia.

    Gill AJ.

    Pathology. 2012 Jun;44(4):285-92. doi: 10.1097/PAT.0b013e3283539932. Review.

    PMID:
    22544211
    [PubMed - indexed for MEDLINE]
    15.

    A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.

    Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP.

    Horm Metab Res. 2012 May;44(5):359-66. doi: 10.1055/s-0032-1304594. Epub 2012 Apr 19. Review.

    PMID:
    22517557
    [PubMed - indexed for MEDLINE]
    16.

    Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

    Lefebvre S, Borson-Chazot F, Boutry-Kryza N, Wion N, Schillo F, Peix JL, Brunaud L, Finat A, Calender A, Giraud S.

    Horm Metab Res. 2012 May;44(5):334-8. doi: 10.1055/s-0032-1306308. Epub 2012 Apr 19.

    PMID:
    22517554
    [PubMed - indexed for MEDLINE]
    17.

    Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

    Fishbein L, Nathanson KL.

    Cancer Genet. 2012 Jan-Feb;205(1-2):1-11. doi: 10.1016/j.cancergen.2012.01.009. Review.

    PMID:
    22429592
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3.

    Malinoc A, Sullivan M, Wiech T, Kurt Werner S, Jilg C, Straeter J, Deger S, Hoffmann MM, Bosse A, Rasp G, Eng C, Neumann HP.

    Endocr Relat Cancer. 2012 May 3;19(3):283-90. doi: 10.1530/ERC-11-0324. Print 2012 Jun.

    PMID:
    22351710
    [PubMed - indexed for MEDLINE]
    19.

    An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.

    Gimenez-Roqueplo AP, Dahia PL, Robledo M.

    Horm Metab Res. 2012 May;44(5):328-33. doi: 10.1055/s-0031-1301302. Epub 2012 Feb 10. Review.

    PMID:
    22328163
    [PubMed - indexed for MEDLINE]
    20.

    Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.

    Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S.

    Ann Neurol. 2012 Jan;71(1):84-92. doi: 10.1002/ana.22658.

    PMID:
    22275255
    [PubMed - indexed for MEDLINE]

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