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| Bayesian approach to determining penetrance of pathogenic SDH variants. Journal of medical genetics 2018 Sep . Benn Diana E, Zhu Ying, Andrews Katrina A, Wilding Mathilda, Duncan Emma L, Dwight Trisha, Tothill Richard W, Burgess John, Crook Ashley, Gill Anthony J, Hicks Rodney J, Kim Edward, Luxford Catherine, Marfan Helen, Richardson Anne Louise, Robinson Bruce, Schlosberg Arran, Susman Rachel, Tacon Lyndal, Trainer Alison, Tucker Katherine, Maher Eamonn R, Field Michael, Clifton-Bligh Roderick |
| Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. Journal of medical genetics 2018 Jun 55 (6): 384-394. Andrews Katrina A, Ascher David B, Pires Douglas Eduardo Valente, Barnes Daniel R, Vialard Lindsey, Casey Ruth T, Bradshaw Nicola, Adlard Julian, Aylwin Simon, Brennan Paul, Brewer Carole, Cole Trevor, Cook Jackie A, Davidson Rosemarie, Donaldson Alan, Fryer Alan, Greenhalgh Lynn, Hodgson Shirley V, Irving Richard, Lalloo Fiona, McConachie Michelle, McConnell Vivienne P M, Morrison Patrick J, Murday Victoria, Park Soo-Mi, Simpson Helen L, Snape Katie, Stewart Susan, Tomkins Susan E, Wallis Yvonne, Izatt Louise, Goudie David, Lindsay Robert S, Perry Colin G, Woodward Emma R, Antoniou Antonis C, Maher Eamonn |
| Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Oct 23 (20): 6315-6324. Remacha Laura, Comino-Méndez Iñaki, Richter Susan, Contreras Laura, Currás-Freixes María, Pita Guillermo, Letón Rocío, Galarreta Antonio, Torres-Pérez Rafael, Honrado Emiliano, Jiménez Scherezade, Maestre Lorena, Moran Sebastian, Esteller Manel, Satrústegui Jorgina, Eisenhofer Graeme, Robledo Mercedes, Cascón Alber |
| Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India. Journal of pediatric endocrinology & metabolism : JPEM 2017 Apr . Khadilkar Kranti, Sarathi Vijaya, Kasaliwal Rajeev, Pandit Reshma, Goroshi Manjunath, Shivane Vyankatesh, Lila Anurag, Bandgar Tushar, Shah Nalini |
| Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. European journal of endocrinology / European Federation of Endocrine Societies 2016 Oct 175 (4): 311-23. Pandit Reshma, Khadilkar Kranti, Sarathi Vijaya, Kasaliwal Rajeev, Goroshi Manjunath, Khare Shruti, Nair Sandhya, Raghavan Vijaya, Dalvi Abhay, Hira Priya, Fernandes Gwendolyn, Sathe Pragati, Rojekar Amey, Malhotra Gaurav, Bakshi Ganesh, Prakash Gagan, Bhansali Anil, Walia Rama, Kamalanathan Sadishkumar, Sahoo Jayaprakash, Desai Ankush, Bhagwat Nikhil, Mappa Prashanth, Rajput Rajesh, Chandrashekhar Sudha Rao, Shivane Vyankatesh, Menon Padma, Lila Anurag, Bandgar Tushar, Shah Nali |
| Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. Hereditary cancer in clinical practice 2016 14 13. Bennedbæk Marc, Rossing Maria, Rasmussen Åse K, Gerdes Anne-Marie, Skytte Anne-Bine, Jensen Uffe B, Nielsen Finn C, Hansen Thomas V |
| Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. European journal of medical genetics 2015 Sep 58 (9): 433-8. Zhu W D, Wang Z Y, Chai Y C, Wang X W, Chen D Y, Wu |
| Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015 Aug . Lee C H, Cheung C Y Y, Chow W S, Woo Y C, Yeung C Y, Lang B H H, Fong C H Y, Kwok K H M, Chen S P L, Mak C M, Tan K C B, Lam K S |
| SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2015 Jun 28 (6): 807-21. Papathomas Thomas G, Oudijk Lindsey, Persu Alexandre, Gill Anthony J, van Nederveen Francien, Tischler Arthur S, Tissier Frédérique, Volante Marco, Matias-Guiu Xavier, Smid Marcel, Favier Judith, Rapizzi Elena, Libe Rosella, Currás-Freixes Maria, Aydin Selda, Huynh Thanh, Lichtenauer Urs, van Berkel Anouk, Canu Letizia, Domingues Rita, Clifton-Bligh Roderick J, Bialas Magdalena, Vikkula Miikka, Baretton Gustavo, Papotti Mauro, Nesi Gabriella, Badoual Cécile, Pacak Karel, Eisenhofer Graeme, Timmers Henri J, Beuschlein Felix, Bertherat Jérôme, Mannelli Massimo, Robledo Mercedes, Gimenez-Roqueplo Anne-Paule, Dinjens Winand Nm, Korpershoek Esther, de Krijger Ronald |
| A registry-based study of thyroid paraganglioma: histological and genetic characteristics. Endocrine-related cancer 2015 Apr 22 (2): 191-204. von Dobschuetz Ernst, Leijon Helena, Schalin-Jäntti Camilla, Schiavi Francesca, Brauckhoff Michael, Peczkowska Mariola, Spiazzi Giovanna, Demattè Serena, Cecchini Maria Enrica, Sartorato Paola, Krajewska Jolanta, Hasse-Lazar Kornelia, Roszkowska-Purska Katarzyna, Taschin Elisa, Malinoc Angelica, Akslen Lars A, Arola Johanna, Lange Dariusz, Fassina Ambrogio, Pennelli Gianmaria, Barbareschi Mattia, Luettges Jutta, Prejbisz Aleksander, Januszewicz Andrzej, Strate Tim, Bausch Birke, Castinetti Frederic, Jarzab Barbara, Opocher Giuseppe, Eng Charis, Neumann Hartmut P |
| Mutations seen among patients with pheochromocytoma and paraganglioma at a referral center from India. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et me?tabolisme 2015 Feb 47 (2): 133-7. Pai R, Ebenazer A, Paul M J, Thomas N, Nair A, Seshadri M S, Oommen R, Shanthly N, Devasia A, Rebekah G, Jeyaseelan L, Rajaratnam |
| Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis. International journal of endocrinology 2015 2015 138573. Luchetti Andrea, Walsh Diana, Rodger Fay, Clark Graeme, Martin Tom, Irving Richard, Sanna Mario, Yao Masahiro, Robledo Mercedes, Neumann Hartmut P H, Woodward Emma R, Latif Farida, Abbs Stephen, Martin Howard, Maher Eamonn |
| Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1352-60. Welander Jenny, Andreasson Adam, Juhlin C Christofer, Wiseman Roger W, Bäckdahl Martin, Höög Anders, Larsson Catharina, Gimm Oliver, Söderkvist Pet |
| Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation. The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1392-6. Casey Ruth, Garrahy Aoife, Tuthill Antoinette, O'Halloran Domhnall, Joyce Caroline, Casey Mary B, O'Shea Paula, Bell Marc |
| Long-term prognosis of patients with pediatric pheochromocytoma. Endocrine-related cancer 2014 Feb 21 (1): 17-25. Bausch Birke, Wellner Ulrich, Bausch Dirk, Schiavi Francesca, Barontini Marta, Sanso Gabriela, Walz Martin K, Peczkowska Mariola, Weryha Georges, Dall'igna Patrizia, Cecchetto Giovanni, Bisogno Gianni, Moeller Lars C, Bockenhauer Detlef, Patocs Attila, Rácz Karoly, Zabolotnyi Dmitry, Yaremchuk Svetlana, Dzivite-Krisane Iveta, Castinetti Frederic, Taieb David, Malinoc Angelica, von Dobschuetz Ernst, Roessler Jochen, Schmid Kurt W, Opocher Giuseppe, Eng Charis, Neumann Hartmut P |
| Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. Clinical endocrinology 2013 Dec 79 (6): 817-23. P?czkowska Mariola, Kowalska Aldona, Sygut Jacek, Waligórski Dariusz, Malinoc Angelica, Janaszek-Sitkowska Hanna, Prejbisz Aleksander, Januszewicz Andrzej, Neumann Hartmut P |
| Avoiding and nonexpressing: coping styles of patients with paragangliomas. The Journal of clinical endocrinology and metabolism 2013 Sep 98 (9): 3608-14. van Hulsteijn L T, Kaptein A A, Louisse A, Smit J W A, Corssmit E P |
| A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. The Journal of clinical endocrinology and metabolism 2013 Jul 98 (7): E1248-56. Rattenberry Eleanor, Vialard Lindsey, Yeung Anna, Bair Hayley, McKay Kirsten, Jafri Mariam, Canham Natalie, Cole Trevor R, Denes Judit, Hodgson Shirley V, Irving Richard, Izatt Louise, Korbonits Márta, Kumar Ajith V, Lalloo Fiona, Morrison Patrick J, Woodward Emma R, Macdonald Fiona, Wallis Yvonne, Maher Eamonn |
| Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2013 May 45 (5): 431-6. Fruhmann J, Geigl J B, Konstantiniuk P, Cohnert T |
| Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden. World journal of surgery 2012 Jun 36 (6): 1389-94. Muth Andreas, Abel Frida, Jansson Svante, Nilsson Ola, Ahlman Håkan, Wängberg |
| Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. Clinical endocrinology 2011 Nov 75 (5): 650-5. Hensen E F, Siemers M D, Jansen J C, Corssmit E P M, Romijn J A, Tops C M J, van der Mey A G L, Devilee P, Cornelisse C J, Bayley J P, Vriends A H J |
| Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. The Journal of clinical endocrinology and metabolism 2011 Aug 96 (8): E1279-82. Neumann Hartmut P H, Sullivan Maren, Winter Aurelia, Malinoc Angelica, Hoffmann Michael M, Boedeker Carsten C, Bertz Hartmut, Walz Martin K, Moeller Lars C, Schmid Kurt W, Eng Char |
| Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD. Clinical biochemistry 2010 May 43 (7-8): 700-4. Milosevic Dragana, Lundquist Patrick, Cradic Kendall, Vidal-Folch Noemi, Huynh ThanhTruc, Pacak Karel, Grebe Stefan K |
| SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. The Lancet. Oncology 2010 Apr 11 (4): 366-72. Bayley Jean-Pierre, Kunst Henricus P M, Cascon Alberto, Sampietro Maria Lourdes, Gaal José, Korpershoek Esther, Hinojar-Gutierrez Adolfo, Timmers Henri J L M, Hoefsloot Lies H, Hermsen Mario A, Suárez Carlos, Hussain A Karim, Vriends Annette H J T, Hes Frederik J, Jansen Jeroen C, Tops Carli M, Corssmit Eleonora P, de Knijff Peter, Lenders Jacques W M, Cremers Cor W R J, Devilee Peter, Dinjens Winand N M, de Krijger Ronald R, Robledo Merced |
| Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. The Journal of clinical endocrinology and metabolism 2010 Mar 95 (3): 1274-8. Gaal José, Burnichon Nelly, Korpershoek Esther, Roncelin Isabelle, Bertherat Jérôme, Plouin Pierre-François, de Krijger Ronald R, Gimenez-Roqueplo Anne-Paule, Dinjens Winand N |
| Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. The Journal of clinical endocrinology and metabolism 2010 Jan 95 (1): 308-13. Erlic Zoran, Hoffmann Michael M, Sullivan Maren, Franke Gerlind, Peczkowska Mariola, Harsch Igor, Schott Matthias, Gabbert Helmut E, Valimäki Matti, Preuss Simon F, Hasse-Lazar Kornelia, Waligorski Dariusz, Robledo Mercedes, Januszewicz Andrzej, Eng Charis, Neumann Hartmut P |
| Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clinical cancer research : an official journal of the American Association for Cancer Research 2009 Oct 15 (20): 6378-85. Erlic Zoran, Rybicki Lisa, Peczkowska Mariola, Golcher Henriette, Kann Peter H, Brauckhoff Michael, Müssig Karsten, Muresan Michaela, Schäffler Andreas, Reisch Nicole, Schott Matthias, Fassnacht Martin, Opocher Giuseppe, Klose Silke, Fottner Christian, Forrer Flavio, Plöckinger Ursula, Petersenn Stephan, Zabolotny Dimitry, Kollukch Oleg, Yaremchuk Svetlana, Januszewicz Andrzej, Walz Martin K, Eng Charis, Neumann Hartmut P H, |
| Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2009 Sep 41 (9): 672-5. Cascón A, López-Jiménez E, Landa I, Leskelä S, Leandro-García L J, Maliszewska A, Letón R, de la Vega L, García-Barcina M J, Sanabria C, Alvarez-Escolá C, Rodríguez-Antona C, Robledo |
| An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. The Lancet. Oncology 2009 Aug 10 (8): 764-71. van Nederveen Francien H, Gaal José, Favier Judith, Korpershoek Esther, Oldenburg Rogier A, de Bruyn Elly M C A, Sleddens Hein F B M, Derkx Pieter, Rivière Julie, Dannenberg Hilde, Petri Bart-Jeroen, Komminoth Paul, Pacak Karel, Hop Wim C J, Pollard Patrick J, Mannelli Massimo, Bayley Jean-Pierre, Perren Aurel, Niemann Stephan, Verhofstad Albert A, de Bruïne Adriaan P, Maher Eamonn R, Tissier Frédérique, Méatchi Tchao, Badoual Cécile, Bertherat Jérôme, Amar Laurence, Alataki Despoina, Van Marck Eric, Ferrau Francesco, François Jerney, de Herder Wouter W, Peeters Mark-Paul F M Vrancken, van Linge Anne, Lenders Jacques W M, Gimenez-Roqueplo Anne-Paule, de Krijger Ronald R, Dinjens Winand N |
| The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. The Journal of clinical endocrinology and metabolism 2009 Aug 94 (8): 2817-27. Burnichon Nelly, Rohmer Vincent, Amar Laurence, Herman Philippe, Leboulleux Sophie, Darrouzet Vincent, Niccoli Patricia, Gaillard Dominique, Chabrier Gérard, Chabolle Frédéric, Coupier Isabelle, Thieblot Philippe, Lecomte Pierre, Bertherat Jérôme, Wion-Barbot Nelly, Murat Arnaud, Venisse Annabelle, Plouin Pierre-François, Jeunemaitre Xavier, Gimenez-Roqueplo Anne-Paule, |
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- Page last updated:May 18, 2022
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