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Items: 1 to 20 of 142

1.

SDHD promoter mutations are rare events in cutaneous melanomas but SDHD protein expression is downregulated in advanced cutaneous melanoma.

Pópulo H, Batista R, Sampaio C, Pardal J, Lopes JM, Soares P.

PLoS One. 2017 Jun 29;12(6):e0180392. doi: 10.1371/journal.pone.0180392. eCollection 2017.

2.

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.

Burnichon N, Mazzella JM, Drui D, Amar L, Bertherat J, Coupier I, Delemer B, Guilhem I, Herman P, Kerlan V, Tabarin A, Wion N, Lahlou-Laforet K, Favier J, Gimenez-Roqueplo AP.

J Med Genet. 2017 Feb;54(2):125-133. doi: 10.1136/jmedgenet-2016-104297. Epub 2016 Nov 17.

3.

Analysis of SDHD promoter mutations in various types of melanoma.

Scholz SL, Horn S, Murali R, Möller I, Sucker A, Sondermann W, Stiller M, Schilling B, Livingstone E, Zimmer L, Reis H, Metz CH, Zeschnigk M, Paschen A, Steuhl KP, Schadendorf D, Westekemper H, Griewank KG.

Oncotarget. 2015 Sep 22;6(28):25868-82. doi: 10.18632/oncotarget.4665.

4.

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW.

Hum Genet. 2015 Aug;134(8):869-79. doi: 10.1007/s00439-015-1568-z. Epub 2015 May 26.

5.

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
6.

No evidence for increased mortality in SDHD variant carriers compared with the general population.

van Hulsteijn LT, Heesterman B, Jansen JC, Bayley JP, Hes FJ, Corssmit EP, Dekkers OM.

Eur J Hum Genet. 2015 Dec;23(12):1713-6. doi: 10.1038/ejhg.2015.36. Epub 2015 Mar 11.

7.

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.

Yelavarthi K, Cabral H, Wilson GN, Rohena L, Risheg H, Penton A, Schleede J, Burnside RD.

Am J Med Genet A. 2015 Apr;167A(4):695-700. doi: 10.1002/ajmg.a.36956. Epub 2015 Mar 3.

PMID:
25735893
8.

Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.

Bayley JP, Oldenburg RA, Nuk J, Hoekstra AS, van der Meer CA, Korpershoek E, McGillivray B, Corssmit EP, Dinjens WN, de Krijger RR, Devilee P, Jansen JC, Hes FJ.

BMC Med Genet. 2014 Oct 10;15:111. doi: 10.1186/s12881-014-0111-8.

9.

No difference in phenotype of the main Dutch SDHD founder mutations.

van Hulsteijn LT, den Dulk AC, Hes FJ, Bayley JP, Jansen JC, Corssmit EP.

Clin Endocrinol (Oxf). 2013 Dec;79(6):824-31. doi: 10.1111/cen.12223. Epub 2013 May 11.

PMID:
23586964
10.

Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome.

Lendvai N, Tóth M, Valkusz Z, Bekő G, Szücs N, Csajbók E, Igaz P, Kriszt B, Kovács B, Rácz K, Patócs A.

Clinics (Sao Paulo). 2012;67 Suppl 1:85-9.

11.

The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

Schiavi F, Demattè S, Cecchini ME, Taschin E, Bobisse S, Del Piano A, Donner D, Barbareschi M, Manera V, Zovato S, Erlic Z, Savvoukidis T, Barollo S, Grego F, Trabalzini F, Amistà P, Grandi C, Branz F, Marroni F, Neumann HP, Opocher G.

J Clin Endocrinol Metab. 2012 Apr;97(4):E637-41. doi: 10.1210/jc.2011-2597. Epub 2012 Mar 28.

PMID:
22456618
12.

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

Xekouki P, Pacak K, Almeida M, Wassif CA, Rustin P, Nesterova M, de la Luz Sierra M, Matro J, Ball E, Azevedo M, Horvath A, Lyssikatos C, Quezado M, Patronas N, Ferrando B, Pasini B, Lytras A, Tolis G, Stratakis CA.

J Clin Endocrinol Metab. 2012 Mar;97(3):E357-66. doi: 10.1210/jc.2011-1179. Epub 2011 Dec 14.

13.

Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

Wang CP, Chen TC, Chang YL, Ko JY, Yang TL, Lo FY, Hu YL, Chen PL, Wu CC, Lou PJ.

Oral Oncol. 2012 Feb;48(2):125-9. doi: 10.1016/j.oraloncology.2011.08.025. Epub 2011 Sep 25.

PMID:
21945342
14.

Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

Yeap PM, Tobias ES, Mavraki E, Fletcher A, Bradshaw N, Freel EM, Cooke A, Murday VA, Davidson HR, Perry CG, Lindsay RS.

J Clin Endocrinol Metab. 2011 Dec;96(12):E2009-13. doi: 10.1210/jc.2011-1244. Epub 2011 Sep 21.

PMID:
21937622
15.

Genomic imprinting at a boundary element flanking the SDHD locus.

Baysal BE, McKay SE, Kim YJ, Zhang Z, Alila L, Willett-Brozick JE, Pacak K, Kim TH, Shadel GS.

Hum Mol Genet. 2011 Nov 15;20(22):4452-61. doi: 10.1093/hmg/ddr376. Epub 2011 Aug 23.

16.

Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

Zha Y, Chen XM, Lam CW, Lee SC, Tong SF, Gao ZQ.

Laryngoscope. 2011 Aug;121(8):1760-4. doi: 10.1002/lary.21850.

PMID:
21792967
17.

A novel SDHD mutation associated with neck paraganglioma.

Reboll R, Martínez-Leon J, Zapater E, Juez M, Garcia-Planells J, Martinez-Cadenas C, Basterra J.

Acta Otolaryngol. 2011 Oct;131(10):1110-6. doi: 10.3109/00016489.2011.587201. Epub 2011 May 30.

PMID:
21619495
18.

Succinate dehydrogenase gene variants and their role in Cowden syndrome.

Bayley JP.

Am J Hum Genet. 2011 May 13;88(5):674-5; author reply 676. doi: 10.1016/j.ajhg.2010.12.016. No abstract available.

19.

Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.

Hensen EF, Siemers MD, Jansen JC, Corssmit EP, Romijn JA, Tops CM, van der Mey AG, Devilee P, Cornelisse CJ, Bayley JP, Vriends AH.

Clin Endocrinol (Oxf). 2011 Nov;75(5):650-5. doi: 10.1111/j.1365-2265.2011.04097.x.

PMID:
21561462
20.

Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria.

Janecke AR, Willett-Brozick JE, Karas C, Hasipek M, Loeffler-Ragg J, Baysal BE.

J Hum Genet. 2010 Mar;55(3):182-5. doi: 10.1038/jhg.2009.142. Epub 2010 Jan 29.

PMID:
20111059

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