BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

237 related articles for article (PubMed ID: 24781757)

  • 41. Identification of succinate dehydrogenase-deficient bladder paragangliomas.
    Mason EF; Sadow PM; Wagner AJ; Remillard SP; Flood TA; Belanger EC; Hornick JL; Barletta JA
    Am J Surg Pathol; 2013 Oct; 37(10):1612-8. PubMed ID: 23797725
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
    Poyau A; Buchet K; Bouzidi MF; Zabot MT; Echenne B; Yao J; Shoubridge EA; Godinot C
    Hum Genet; 2000 Feb; 106(2):194-205. PubMed ID: 10746561
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.
    Else T; Lerario AM; Everett J; Haymon L; Wham D; Mullane M; Wilson TL; Rainville I; Rana H; Worth AJ; Snyder NW; Blair IA; McKay R; Kilbridge K; Hammer G; Barletta J; Vaidya A
    Eur J Endocrinol; 2017 Nov; 177(5):439-444. PubMed ID: 28819017
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
    Perrier S; Gauquelin L; Tétreault M; Tran LT; Webb N; Srour M; Mitchell JJ; Brunel-Guitton C; Majewski J; Long V; Keller S; Gambello MJ; Simons C; ; Vanderver A; Bernard G
    Clin Genet; 2018 Feb; 93(2):396-400. PubMed ID: 28857146
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.
    Isobe K; Minowada S; Tatsuno I; Suzukawa K; Nissato S; Nanmoku T; Hara H; Yashiro T; Kawakami Y; Takekoshi K
    Horm Res; 2007; 68(2):68-71. PubMed ID: 17308434
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.
    Burnichon N; Vescovo L; Amar L; Libé R; de Reynies A; Venisse A; Jouanno E; Laurendeau I; Parfait B; Bertherat J; Plouin PF; Jeunemaitre X; Favier J; Gimenez-Roqueplo AP
    Hum Mol Genet; 2011 Oct; 20(20):3974-85. PubMed ID: 21784903
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.
    Dwight T; Mann K; Benn DE; Robinson BG; McKelvie P; Gill AJ; Winship I; Clifton-Bligh RJ
    J Clin Endocrinol Metab; 2013 Jun; 98(6):E1103-8. PubMed ID: 23633203
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Recurrent epimutation of SDHC in gastrointestinal stromal tumors.
    Killian JK; Miettinen M; Walker RL; Wang Y; Zhu YJ; Waterfall JJ; Noyes N; Retnakumar P; Yang Z; Smith WI; Killian MS; Lau CC; Pineda M; Walling J; Stevenson H; Smith C; Wang Z; Lasota J; Kim SY; Boikos SA; Helman LJ; Meltzer PS
    Sci Transl Med; 2014 Dec; 6(268):268ra177. PubMed ID: 25540324
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.
    Renella R; Carnevale J; Schneider KA; Hornick JL; Rana HQ; Janeway KA
    Fam Cancer; 2014 Sep; 13(3):507-11. PubMed ID: 24781345
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.
    Schiavi F; Boedeker CC; Bausch B; Peçzkowska M; Gomez CF; Strassburg T; Pawlu C; Buchta M; Salzmann M; Hoffmann MM; Berlis A; Brink I; Cybulla M; Muresan M; Walter MA; Forrer F; Välimäki M; Kawecki A; Szutkowski Z; Schipper J; Walz MK; Pigny P; Bauters C; Willet-Brozick JE; Baysal BE; Januszewicz A; Eng C; Opocher G; Neumann HP;
    JAMA; 2005 Oct; 294(16):2057-63. PubMed ID: 16249420
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).
    Horváth R; Abicht A; Holinski-Feder E; Laner A; Gempel K; Prokisch H; Lochmüller H; Klopstock T; Jaksch M
    J Neurol Neurosurg Psychiatry; 2006 Jan; 77(1):74-6. PubMed ID: 16361598
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
    van den Bosch BJ; Gerards M; Sluiter W; Stegmann AP; Jongen EL; Hellebrekers DM; Oegema R; Lambrichs EH; Prokisch H; Danhauser K; Schoonderwoerd K; de Coo IF; Smeets HJ
    J Med Genet; 2012 Jan; 49(1):10-5. PubMed ID: 22114105
    [TBL] [Abstract][Full Text] [Related]  

  • 53. SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.
    Douwes Dekker PB; Hogendoorn PC; Kuipers-Dijkshoorn N; Prins FA; van Duinen SG; Taschner PE; van der Mey AG; Cornelisse CJ
    J Pathol; 2003 Nov; 201(3):480-6. PubMed ID: 14595761
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Overexpression of miR-210 is associated with SDH-related pheochromocytomas, paragangliomas, and gastrointestinal stromal tumours.
    Tsang VH; Dwight T; Benn DE; Meyer-Rochow GY; Gill AJ; Sywak M; Sidhu S; Veivers D; Sue CM; Robinson BG; Clifton-Bligh RJ; Parker NR
    Endocr Relat Cancer; 2014 Jun; 21(3):415-26. PubMed ID: 24623741
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Mitochondrial syndromes with leukoencephalopathies.
    Wong LJ
    Semin Neurol; 2012 Feb; 32(1):55-61. PubMed ID: 22422207
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
    Boikos SA; Xekouki P; Fumagalli E; Faucz FR; Raygada M; Szarek E; Ball E; Kim SY; Miettinen M; Helman LJ; Carney JA; Pacak K; Stratakis CA
    Eur J Hum Genet; 2016 Apr; 24(4):569-73. PubMed ID: 26173966
    [TBL] [Abstract][Full Text] [Related]  

  • 57. The genetic basis of isolated mitochondrial complex II deficiency.
    Fullerton M; McFarland R; Taylor RW; Alston CL
    Mol Genet Metab; 2020; 131(1-2):53-65. PubMed ID: 33162331
    [TBL] [Abstract][Full Text] [Related]  

  • 58. [From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas].
    Taschner PE; Bröcker-Vriends AH; van der Mey AG
    Ned Tijdschr Geneeskd; 2002 Nov; 146(46):2188-90. PubMed ID: 12467161
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
    Baertling F; Sánchez-Caballero L; Timal S; van den Brand MA; Ngu LH; Distelmaier F; Rodenburg RJ; Nijtmans LG
    Mol Genet Metab; 2017 Mar; 120(3):243-246. PubMed ID: 27986404
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
    Hallmann K; Kudin AP; Zsurka G; Kornblum C; Reimann J; Stüve B; Waltz S; Hattingen E; Thiele H; Nürnberg P; Rüb C; Voos W; Kopatz J; Neumann H; Kunz WS
    Brain; 2016 Feb; 139(Pt 2):338-45. PubMed ID: 26685157
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.