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Florian Haller, Evgeny A Moskalev, Fabio R Faucz, Sarah Barthelmeß, Stefan Wiemann, Matthias Bieg, Guillaume Assie, Jerome Bertherat, Inga-Marie Schaefer, Claudia Otto, Eleanor Rattenberry, Eamonn R Maher, Philipp Ströbel, Martin Werner, J Aidan Carney, Arndt Hartmann, Constantine A Stratakis and Abbas Agaimy

germline mutations in combination with somatic inactivation of the second allele are the cause of familial PGL syndromes PGL1 ( SDHD ), PGL3 ( SDHC ), and PGL4 ( SDHB ) ( Pasini & Stratakis 2009 , Welander et al . 2011 ). In contrast to CSS and familial

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Angelica Malinoc, Maren Sullivan, Thorsten Wiech, Kurt Werner Schmid, Cordula Jilg, Joern Straeter, Serdar Deger, Michael M Hoffmann, Alexander Bosse, Gerd Rasp, Charis Eng and Hartmut P H Neumann

germline mutations of the SDHB gene develop RCC in the setting of hereditary pheochromocytoma/PGL as well as Cowden syndrome, we sought to address the hypothesis that germline mutations in SDHC may also be associated with RCC by interrogating the

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Jean-Pierre Bayley, Marjan M Weiss, Anneliese Grimbergen, Bernadette T J van Brussel, Frederik J Hes, Jeroen C Jansen, Senno Verhoef, Peter Devilee, Eleonora P Corssmit and Annette H J T Vriends

-dependent probe amplification (MLPA) gene deletion analysis of SDHC and SDHD was carried out in 126 paraganglioma–pheochromocytoma patients who had previously tested negative for point mutations of SDHB , C , and D by sequencing. Three deletions of SDHD

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Henri J L M Timmers, Anne-Paule Gimenez-Roqueplo, Massimo Mannelli and Karel Pacak

(locus PGL1 on 11q23), SDHC (locus PGL3 on 1q21), and SDHB (locus PGL4 on 1p35-p36.1; Baysal et al . 2000 , Niemann & Muller 2000 , Astuti et al . 2001 ). An up-to-date overview of all reported SDHx allelic variants that give rise to familial PGL

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P N Span, J U Rao, S B J Oude Ophuis, J W M Lenders, F C G J Sweep, P Wesseling, B Kusters, F H van Nederveen, R R de Krijger, A R M M Hermus and H J L M Timmers

aHIF and other cluster-specific genes ( VEGF , aquaporin 3 , cytochrome b561 , p57Kip2 , slit homolog 3 , and SDHC ) in PGLs of different genotypes and investigated the relation between expression of these genes and metastasis-free survival

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M Montani, A M Schmitt, S Schmid, T Locher, P Saremaslani, P U Heitz, P Komminoth and A Perren

, Jindrichova et al. 2003 ). However, no causative genes in sporadic MTC lacking a Ret mutation have been described to date. Mutations of the tumor suppressor genes SDHD ( Baysal et al. 2000 ), SDHC ( Niemann & Muller 2000 ) and SDHB ( Astuti et al

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Ying Ni, Spencer Seballos, Shireen Ganapathi, Danielle Gurin, Benjamin Fletcher, Joanne Ngeow, Rebecca Nagy, Richard T Kloos, Matthew D Ringel, Thomas LaFramboise and Charis Eng

subunits encoded by autosomal genes SDHA , SDHB , SDHC , and SDHD (reviewed in Eng et al . (2003) ). Germline homozygous or compound heterozygous mutations in SDHA result in severe neurological dysfunction, such as Leigh syndrome, a rare but fatal

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Valentina Piccini, Elena Rapizzi, Alessandra Bacca, Giuseppe Di Trapani, Raffaele Pulli, Valentino Giachè, Benedetta Zampetti, Emanuela Lucci-Cordisco, Letizia Canu, Elisa Corsini, Antongiulio Faggiano, Luca Deiana, Davide Carrara, Valeria Tantardini, Stefano Mariotti, Maria Rosaria Ambrosio, Maria Chiara Zatelli, Gabriele Parenti, Annamaria Colao, Carlo Pratesi, Giampaolo Bernini, Tonino Ercolino and Massimo Mannelli

include SDHD , located on 11q23 ( Baysal et al . 2000 ); SDHB , located on 1p36 ( Astuti et al . 2001 ); SDHC , located on 1q21 ( Niemann & Mueller 2000 ); and SDHAF2 , located on 11q12, which is responsible for SDHA flavination ( Hao et al . 2009

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Birke Bausch, Ulrich Wellner, Dirk Bausch, Francesca Schiavi, Marta Barontini, Gabriela Sanso, Martin K Walz, Mariola Peczkowska, Georges Weryha, Patrizia Dall'Igna, Giovanni Cecchetto, Gianni Bisogno, Lars C Moeller, Detlef Bockenhauer, Attila Patocs, Karoly Rácz, Dmitry Zabolotnyi, Svetlana Yaremchuk, Iveta Dzivite-Krisane, Frederic Castinetti, David Taieb, Angelica Malinoc, Ernst von Dobschuetz, Jochen Roessler, Kurt W Schmid, Giuseppe Opocher, Charis Eng and Hartmut P H Neumann

carry germline mutations in one of the ten susceptibility genes: VHL , RET , NF1 , SDHAF2, SDHA, SDHB, SDHC, SDHD, MAX , and TMEM127 ( Neumann et al . 2002 , 2004 , Mannelli et al . 2007 , 2009 , Bayley et al . 2010 , Burnichon et al

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Diana E Benn, Bruce G Robinson and Roderick J Clifton-Bligh

studies to hereditary head and neck PGLs (HNPGLs). The phenotype of germline SDHD mutations was quickly extended to include thoracoabdominal PGLs (TAPGLs) and PCs ( Gimm et al . 2000 , Astuti et al . 2001 a ). Soon thereafter, the SDHC gene was