Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Disease and SDHC[original query] |
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| Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. Journal of medical genetics 2002 Mar 39 (3): 178-83. Baysal B E, Willett-Brozick J E, Lawrence E C, Drovdlic C M, Savul S A, McLeod D R, Yee H A, Brackmann D E, Slattery W H, Myers E N, Ferrell R E, Rubinstein W |
| Malignant head and neck paragangliomas in SDHB mutation carriers. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2007 Jul 137 (1): 126-9. Boedeker Carsten Christof, Neumann Hartmut P H, Maier Wolfgang, Bausch Birke, Schipper Jörg, Ridder Gerd Jürg |
| Germline SDHB mutations and familial renal cell carcinoma. Journal of the National Cancer Institute 2008 Sep 100 (17): 1260-2. Ricketts Christopher, Woodward Emma R, Killick Pip, Morris Mark R, Astuti Dewi, Latif Farida, Maher Eamonn |
| 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 |
| 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 |
| 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 |
| Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. The Journal of clinical endocrinology and metabolism 2009 Jun 94 (6): 1938-44. Boedeker Carsten C, Erlic Zoran, Richard Stéphane, Kontny Udo, Gimenez-Roqueplo Anne-Paule, Cascon Alberto, Robledo Mercedes, de Campos José M, van Nederveen Francien H, de Krijger Ronald R, Burnichon Nelly, Gaal José, Walter Martin A, Reschke Kirsten, Wiech Thorsten, Weber Johannes, Rückauer Klaus, Plouin Pierre Francois, Darrouzet Vincent, Giraud Sophie, Eng Charis, Neumann Hartmut P |
| 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 |
| Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. American journal of human genetics 2012 Jul 91 (1): 97-108. Johnston Jennifer J, Rubinstein Wendy S, Facio Flavia M, Ng David, Singh Larry N, Teer Jamie K, Mullikin James C, Biesecker Leslie |
| 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 |
| Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer. Endocrine-related cancer 2015 Apr 22 (2): 121-30. Ni Ying, Seballos Spencer, Ganapathi Shireen, Gurin Danielle, Fletcher Benjamin, Ngeow Joanne, Nagy Rebecca, Kloos Richard T, Ringel Matthew D, LaFramboise Thomas, Eng Char |
| Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects. European thyroid journal 2016 Jul 5 (2): 94-9. Accordi Elen Dias, Xekouki Paraskevi, Azevedo Bruna, de Alexandre Rodrigo Bertollo, Frasson Carla, Gantzel Siliane Marie, Papadakis Georgios Z, Angelousi Anna, Stratakis Constantine A, Sotomaior Vanessa Santos, Faucz Fabio |
| Mediastinal paragangliomas related to SDHx gene mutations. Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgery 2016 Sep 13 (3): 276-282. Micha?owska Ilona, ?wik?a Jaros?aw, Prejbisz Aleksander, Kwiatek Pawe?, Szperl Ma?gorzata, Michalski Wojciech, Wyrwicz Lucjan, Ku?mierczyk Mariusz, Januszewicz Andrzej, Maciejczyk Anna, Roszczynko Marta, P?czkowska Mario |
| 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 |
| Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. Journal of medical genetics 2019 9 57 (2): 96-103. Bayley Jean Pierre, Bausch Birke, Rijken Johannes Adriaan, van Hulsteijn Leonie Theresia, Jansen Jeroen C, Ascher David, Pires Douglas Eduardo Valente, Hes Frederik J, Hensen Erik F, Corssmit Eleonora P M, Devilee Peter, Neumann Hartmut P |
| SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center. Endocrine 2019 May . Donato Sara, Simões Helder, Pinto Ana Teresa, M Cavaco Branca, Leite Valeria |
| 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 |
| 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 |
| Succinate: A Serum Biomarker of SDHB-Mutated Paragangliomas and Pheochromocytomas. The Journal of clinical endocrinology and metabolism 2022 Aug . Lamy Constance, Tissot Hubert, Faron Matthieu, Baudin Eric, Lamartina Livia, Pradon Caroline, Al Ghuzlan Abir, Leboulleux Sophie, Perfettini Jean-Luc, Paci Angelo, Hadoux Julien, Broutin Soph |
| Genotype-phenotype associations in paragangliomas of the temporal bone in a multi-ethnic cohort. Acta oto-laryngologica 2023 6 1-7. Simon I Angeli, Juan A Chiossone K, Stefania Goncalves, Fred F Telisc |
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