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Items: 1 to 20 of 66

1.
Clinical guideline on the management of pheochromocytoma and paraganglioma in patients harboring germline pathogenic variants in the succinate dehydrogenase subunit D gene
Maleeha Ahmad, Prof Laurence Amar, Prof Isabelle Bourdeau, Ruth T. Casey, Prof Frédéric Castinetti, Prof Roderick Clifton-Bligh, Eleonora P.M. Corssmit, Ronald R. de Krijger, Jaydira Del Rivero, Prof Graeme Eisenhofer, Prof Anthony L. Estrera, Hans K. Ghayee, Prof Anne-Paule Gimenez-Roqueplo, Prof Ashley Grossman, Prof Alessio Imperiale, Prof Jeroen C. Jansen, Abhishek Jha, Michiel Kerstens, Prof Henricus P.M. Kunst, Prof Jacques W.M. Lenders, Prof Michael Lim, Prof James K. Liu, Prof Charlotte Lussey-Lepoutre, Prof Eamonn R. Maher, Prof Daniele Marchioni, Prof Leilani B. Mercado-Asis, Prof Ozgur Mete, Leah Meuter, Mitsuhide Naruse, Prof Naris Nilubol, Prof Svenja Nölting, Prof Karel Pacak, Prof Nancy D. Perrier, Prof Neeta Pandit-Taskar, Erqi Liu Pollom, Prof Frédéric Sebag, Zachary G. Schwam, Prof David Taïeb, Akiyo Tanabe, Prof Henri J. L. M. Timmers, Lucas Vitzthum, Prof George B. Wanna, Prof Jiri Widimsky
Lancet Diabetes Endocrinol. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Lancet Diabetes Endocrinol. 2023 May; 11(5): 345–361. Published online 2023 Mar 31. doi: 10.1016/S2213-8587(23)00038-4
PMCID:
PMC10182476
AbstractArticlePDF–1.1M
2.
The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR
Anastasiya Snezhkina, Maria Fedorova, Anastasiya Kobelyatskaya, Daria Markova, Margarita Lantsova, Anna Ikonnikova, Marina Emelyanova, Dmitry Kalinin, Elena Pudova, Nataliya Melnikova, Alexey Dmitriev, George Krasnov, Vladislav Pavlov, Anna Kudryavtseva
Int J Mol Sci. 2023 Jan; 24(1): 628. Published online 2022 Dec 30. doi: 10.3390/ijms24010628
PMCID:
PMC9820527
AbstractArticlePDF–2.1M
3.
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
Siying Lin, James Fasham, Fida’ Al-Hijawi, Nouar Qutob, Adam Gunning, Joseph S. Leslie, Lucy McGavin, Nishanka Ubeyratna, Wisam Baker, Ramez Zeid, Peter D. Turnpenny, Andrew H. Crosby, Emma L. Baple, Reham Khalaf-Nazzal
Eur J Hum Genet. 2021 Oct; 29(10): 1570–1576. Published online 2021 May 20. doi: 10.1038/s41431-021-00887-w
PMCID:
PMC8484551
AbstractArticlePDF–1003K
4.
Complex II subunit SDHD is critical for cell growth and metabolism, which can be partially restored with a synthetic ubiquinone analog
Aloka B. Bandara, Joshua C. Drake, David A. Brown
BMC Mol Cell Biol. 2021; 22: 35. Published online 2021 Jun 12. doi: 10.1186/s12860-021-00370-w
PMCID:
PMC8196461
AbstractArticlePDF–3.5M
5.
Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine
Ruth Casey, Hartmut P H Neumann, Eamonn R Maher
Hum Mol Genet. 2020 Oct 1; 29(R2): R128–R137. Published online 2020 Oct 20. doi: 10.1093/hmg/ddaa201
PMCID:
PMC7574963
AbstractArticlePDF–330K
6.
Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1
FRANCIELE B. LEIDENZ, LUCIANA BASTOS-RODRIGUES, MARCELO OLIVEIRA, MARCELO MAMEDE, MARTA SARQUIS, EITAN FRIEDMAN, LUIZ DE MARCO
Genet Res (Camb) 2015; 97: e3. Published online 2015 Mar 30. doi: 10.1017/S0016672315000063
PMCID:
PMC6863626
AbstractArticlePDF–170K
7.
Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers
Berdine L Heesterman, Lisa M H de Pont, Andel GL van der Mey, Jean-Pierre Bayley, Eleonora PM Corssmit, Frederik J Hes, Berit M Verbist, Peter Paul G van Benthem, Jeroen C Jansen
Eur J Hum Genet. 2018 Sep; 26(9): 1339–1347. Published online 2018 May 18. doi: 10.1038/s41431-018-0116-4
PMCID:
PMC6117364
AbstractArticlePDF–748K
8.
SDHD promoter mutations are rare events in cutaneous melanomas but SDHD protein expression is downregulated in advanced cutaneous melanoma
Helena Pópulo, Rui Batista, Cristina Sampaio, Joana Pardal, José Manuel Lopes, Paula Soares
PLoS One. 2017; 12(6): e0180392. Published online 2017 Jun 29. doi: 10.1371/journal.pone.0180392
PMCID:
PMC5491217
AbstractArticlePDF–3.7M
9.
No evidence for increased mortality in SDHD variant carriers compared with the general population
Leonie T van Hulsteijn, Berdine Heesterman, Jeroen C Jansen, Jean-Pierre Bayley, Frederik J Hes, Eleonora P M Corssmit, Olaf M Dekkers
Eur J Hum Genet. 2015 Dec; 23(12): 1713–1716. Published online 2015 Mar 11. doi: 10.1038/ejhg.2015.36
PMCID:
PMC4795211
AbstractArticlePDF–328K
10.
DIAGNOSIS AND MANAGEMENT OF HEREDITARY PARAGANGLIOMA SYNDROME DUE TO THE F933>X67 SDHD MUTATION
Monica L. Marvin, Carol R. Bradford, James C. Sisson, Stephen B. Gruber
Head Neck. Author manuscript; available in PMC 2016 Feb 18.
Published in final edited form as: Head Neck. 2009 May; 31(5): 689–694. doi: 10.1002/hed.20930
PMCID:
PMC4758329
AbstractArticlePDF–612K
11.
Analysis of SDHD promoter mutations in various types of melanoma
Simone L. Scholz, Susanne Horn, Rajmohan Murali, Inga Möller, Antje Sucker, Wiebke Sondermann, Mathias Stiller, Bastian Schilling, Elisabeth Livingstone, Lisa Zimmer, Henning Reis, Claudia H. Metz, Michael Zeschnigk, Annette Paschen, Klaus-Peter Steuhl, Dirk Schadendorf, Henrike Westekemper, Klaus G. Griewank
Oncotarget. 2015 Sep 22; 6(28): 25868–25882. Published online 2015 Jul 27. doi: 10.18632/oncotarget.4665
PMCID:
PMC4694872
AbstractArticlePDF–3.2M
12.
Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations
Jean-Pierre Bayley, Rogier A Oldenburg, Jennifer Nuk, Attje S Hoekstra, Conny A van der Meer, Esther Korpershoek, Barbara McGillivray, Eleonora PM Corssmit, Winand NM Dinjens, Ronald R de Krijger, Peter Devilee, Jeroen C Jansen, Frederik J Hes
BMC Med Genet. 2014; 15: 111. Published online 2014 Oct 10. doi: 10.1186/s12881-014-0111-8
PMCID:
PMC4259087
AbstractArticlePDF–1.5M
13.
Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome
Nikoletta Lendvai, Miklos Tóth, Zsuzsanna Valkusz, Gabriella Bekő, Nikolette Szücs, Éva Csajbók, Péter Igaz, Balázs Kriszt, Balázs Kovács, Károly Rácz, Attila Patócs
Clinics (Sao Paulo) 2012 Apr; 67(Suppl 1): 85–89. doi: 10.6061/clinics/2012(Sup01)15
PMCID:
PMC3328831
AbstractArticlePDF–425K
14.
Succinate Dehydrogenase (SDH) D Subunit (SDHD) Inactivation in a Growth-Hormone-Producing Pituitary Tumor: A New Association for SDH?
Paraskevi Xekouki, Karel Pacak, Madson Almeida, Christopher A. Wassif, Pierre Rustin, Maria Nesterova, Maria de la Luz Sierra, Joey Matro, Evan Ball, Monalisa Azevedo, Anelia Horvath, Charalampos Lyssikatos, Martha Quezado, Nicholas Patronas, Barbara Ferrando, Barbara Pasini, Aristides Lytras, George Tolis, Constantine A. Stratakis
J Clin Endocrinol Metab. 2012 Mar; 97(3): E357–E366. Published online 2011 Dec 14. doi: 10.1210/jc.2011-1179
PMCID:
PMC3319210
AbstractArticle
15.
Genomic imprinting at a boundary element flanking the SDHD locus
Bora E. Baysal, Sharen E. McKay, Yoon Jung Kim, Zimei Zhang, Linda Alila, Joan E. Willett-Brozick, Karel Pacak, Tae Hoon Kim, Gerald S. Shadel
Hum Mol Genet. 2011 Nov 15; 20(22): 4452–4461. Published online 2011 Aug 23. doi: 10.1093/hmg/ddr376
PMCID:
PMC3196894
AbstractArticlePDF–467K
16.
Succinate Dehydrogenase Gene Variants and Their Role in Cowden Syndrome
Jean-Pierre Bayley
Am J Hum Genet. 2011 May 13; 88(5): 674–675. doi: 10.1016/j.ajhg.2010.12.016
PMCID:
PMC3146717
ArticlePDF–51K
17.
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family
Erik F Hensen, Jeroen C Jansen, Maaike D Siemers, Jan C Oosterwijk, Annette HJT Vriends, Eleonora PM Corssmit, Jean-Pierre Bayley, Andel GL van der Mey, Cees J Cornelisse, Peter Devilee
Eur J Hum Genet. 2010 Jan; 18(1): 62–66. Published online 2009 Jul 8. doi: 10.1038/ejhg.2009.112
PMCID:
PMC2987152
AbstractArticlePDF–179K
18.
Impact of Screening Kindreds for SDHD p.Cys11X as a Common Mutation Associated with Paraganglioma Syndrome Type 1
Mariola Pęczkowska, Zoran Erlic, Michael M. Hoffmann, Mariusz Furmanek, Jarosław Ćwikła, Agata Kubaszek, Aleksander Prejbisz, Zbigniew Szutkowski, Andrzej Kawecki, Krzysztof Chojnowski, Anna Lewczuk, Mieczysław Litwin, Witold Szyfter, Martin A. Walter, Maren Sullivan, Charis Eng, Andrzej Januszewicz, Hartmut P. H. Neumann
J Clin Endocrinol Metab. 2008 Dec; 93(12): 4818–4825. Published online 2008 Sep 30. doi: 10.1210/jc.2008-1290
PMCID:
PMC2626452
AbstractArticle
19.
Biochemically Silent Abdominal Paragangliomas in Patients with Mutations in the Succinate Dehydrogenase Subunit B Gene
Henri J. L. M. Timmers, Karel Pacak, Thanh T. Huynh, Mones Abu-Asab, Maria Tsokos, Maria J. Merino, Bora E. Baysal, Karen T. Adams, Graeme Eisenhofer
J Clin Endocrinol Metab. 2008 Dec; 93(12): 4826–4832. Published online 2008 Oct 7. doi: 10.1210/jc.2008-1093
PMCID:
PMC2626451
AbstractArticle
20.
The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathway
Anne-Paule Gimenez-Roqueplo, Judith Favier, Pierre Rustin, Jean-Jacques Mourad, Pierre-François Plouin, Pierre Corvol, Agnès Rötig, Xavier Jeunemaitre
Am J Hum Genet. 2001 Dec; 69(6): 1186–1197. Published online 2001 Oct 16. doi: 10.1086/324413
PMCID:
PMC1235531
AbstractArticlePDF–1.8M

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