Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 32 Records) |
| Query Trace: Pheochromocytoma and SDHC[original query] |
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| Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? European journal of endocrinology / European Federation of Endocrine Societies 2009 Feb 160 (2): 227-31. Pigny Pascal, Cardot-Bauters Catherine, Do Cao Christine, Vantyghem Marie Christine, Carnaille Bruno, Pattou François, Caron Philippe, Wemeau Jean-Louis, Porchet Nico |
| 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 |
| Genetics of pheochromocytoma and paraganglioma in Spanish patients. The Journal of clinical endocrinology and metabolism 2009 May 94 (5): 1701-5. Cascón Alberto, Pita Guillermo, Burnichon Nelly, Landa Iñigo, López-Jiménez Elena, Montero-Conde Cristina, Leskelä Susanna, Leandro-García Luis Javier, Letón Rocío, Rodríguez-Antona Cristina, Díaz José Angel, López-Vidriero Emilio, González-Neira Anna, Velasco Ana, Matias-Guiu Xavier, Gimenez-Roqueplo Anne-Paule, Robledo Merced |
| Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. The Journal of clinical endocrinology and metabolism 2009 May 94 (5): 1541-7. Mannelli Massimo, Castellano Maurizio, Schiavi Francesca, Filetti Sebastiano, Giacchè Mara, Mori Luigi, Pignataro Viviana, Bernini Gianpaolo, Giachè Valentino, Bacca Alessandra, Biondi Bernadette, Corona Giovanni, Di Trapani Giuseppe, Grossrubatscher Erika, Reimondo Giuseppe, Arnaldi Giorgio, Giacchetti Gilberta, Veglio Franco, Loli Paola, Colao Annamaria, Ambrosio Maria Rosaria, Terzolo Massimo, Letizia Claudio, Ercolino Tonino, Opocher Giuseppe, |
| 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, |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Genetic status determines F-FDG uptake in pheochromocytoma/paraganglioma. Journal of medical imaging and radiation oncology 2017 Dec 61 (6): 745-752. Tiwari Ankita, Shah Nalini, Sarathi Vijaya, Malhotra Gaurav, Bakshi Ganesh, Prakash Gagan, Khadilkar Kranti, Pandit Reshma, Lila Anurag, Bandgar Tush |
| [Hereditary pheochromocytoma-associated syndromes. Part 2]. Terapevticheskii arkhiv 2017 6 87 (10): 115-119. Yukina M Yu, Troshina E A, Beltsevich D |
| 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 |
| 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 |
| Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma. Oncotarget 2019 11 10 (57): 5919-5931. Albattal Shatha, Alswailem Meshael, Moria Yosra, Al-Hindi Hindi, Dasouki Majed, Abouelhoda Mohamed, Alkhail Hala Aba, Alsuhaibani Entissar, Alzahrani Ali |
| Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis. Journal of medical genetics 2019 10 57 (4): 217-225. Lee Hansong, Jeong Seongdo, Yu Yeuni, Kang Junho, Sun Hokeun, Rhee Je-Keun, Kim Yun H |
| Positive Immunostaining for Succinate Dehydrogenase B (SDHB) in Paraganglioma Associated with Germline Mutation of SDHB, L157X and P236S. The Tokai journal of experimental and clinical medicine 2020 9 45 (3): 148-151. Sato Haruhiro, Inomoto Ch |
| Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE). Journal of the Endocrine Society 2020 5 4 (5): bvaa039. de Tersant Marie, Généré Lucile, Freyçon Claire, Villebasse Sophie, Abbas Rachid, Barlier Anne, Bodet Damien, Corradini Nadège, Defachelles Anne-Sophie, Entz-Werle Natacha, Fouquet Cyrielle, Galmiche Louise, Gandemer Virginie, Lacour Brigitte, Mansuy Ludovic, Orbach Daniel, Pluchart Claire, Réguerre Yves, Rigaud Charlotte, Sarnacki Sabine, Sirvent Nicolas, Stephan Jean-Louis, Thebaud Estelle, Gimenez-Roqueplo Anne-Paule, Brugières Lauren |
| Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study. Frontiers in endocrinology 2020 12 11 574662. Ma Xiaosen, Li Ming, Tong Anli, Wang Fen, Cui Yunying, Zhang Xuebin, Zhang Yushi, Chen Shi, Li Yux |
| Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia. Medicina (Kaunas, Lithuania) 2022 Aug 58 (8): . Provenzano Aldesia, Chetta Massimiliano, De Filpo Giuseppina, Cantini Giulia, La Barbera Andrea, Nesi Gabriella, Santi Raffaella, Martinelli Serena, Rapizzi Elena, Luconi Michaela, Maggi Mario, Mannelli Massimo, Ercolino Tonino, Canu Letiz |
| Genetic Predisposition to Pheochromocytoma and Paraganglioma: 21 Years' Experience in the Field. Annales d'endocrinologie 2024 5 . Catherine Cardot-Bauters, Marie-Christine Vantyghem, Christine Do Cao, Rachel Desailloud, Michael Joubert, Lucie Coppin, Marie-Francoise Odou, Pascal Pig |
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