Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 40 Records) |
| Query Trace: Disease and SDHD[original query] |
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| 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 |
| Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management. Cellular oncology : the official journal of the International Society for Cellular Oncology 2010 Jan 32 (4): 275-83. Hermsen Mario A, Sevilla María A, Llorente José Luis, Weiss Marjan M, Grimbergen Anneliese, Allonca Eva, Garcia-Inclán Cristina, Balbín Milagros, Suárez Carl |
| Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2011 Nov 29 (31): 4137-42. King Kathryn S, Prodanov Tamara, Kantorovich Vitaly, Fojo Tito, Hewitt Jacqueline K, Zacharin Margaret, Wesley Robert, Lodish Maya, Raygada Margarita, Gimenez-Roqueplo Anne-Paule, McCormack Shana, Eisenhofer Graeme, Milosevic Dragana, Kebebew Electron, Stratakis Constantine A, Pacak Kar |
| High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations. European journal of human genetics : EJHG 2013 Apr 21 (4): 469-70. Heesterman Berdine L, Bayley Jean Pierre, Tops Carli M, Hes Frederik J, van Brussel Bernadette T J, Corssmit Eleonora P M, Hamming Jaap F, van der Mey Andel G L, Jansen Jeroen |
| TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. The Journal of clinical endocrinology and metabolism 2012 May 97 (5): E805-9. Abermil Nassera, Guillaud-Bataille Marine, Burnichon Nelly, Venisse Annabelle, Manivet Philippe, Guignat Laurence, Drui Delphine, Chupin Maurice, Josseaume Claire, Affres Hélène, Plouin Pierre-François, Bertherat Jérôme, Jeunemaître Xavier, Gimenez-Roqueplo Anne-Pau |
| Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis. Journal of medical genetics 2012 Dec 49 (12): 768-76. van Hulsteijn Leonie Theresia, Dekkers Olaf M, Hes Frederik J, Smit Jan W A, Corssmit E P |
| Illness perceptions, risk perception and worry in SDH mutation carriers. Familial cancer 2013 Aug . van Hulsteijn LT, Kaptein AA, Louisse A, Biermasz NR, Smit JW, Corssmit EP |
| The presence of SDHB mutations should modify surgical indications for carotid body paragangliomas. Annals of surgery 2014 Jul 260 (1): 158-62. Ellis Ryan J, Patel Dhaval, Prodanov Tamara, Nilubol Naris, Pacak Karel, Kebebew Electr |
| 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 |
| Clinical utility of chromogranin A in SDHx-related paragangliomas. European journal of clinical investigation 2014 Apr 44 (4): 365-71. Zuber Samuel, Wesley Robert, Prodanov Tamara, Eisenhofer Graeme, Pacak Karel, Kantorovich Vita |
| Genetic testing in head and neck paraganglioma: who, what, and why? Journal of neurological surgery. Part B, Skull base 2013 Aug 74 (4): 236-40. Sridhara Shankar K, Yener Murat, Hanna Ehab Y, Rich Thereasa, Jimenez Camilo, Kupferman Michael |
| 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 |
| 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 |
| Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors. Neoplasma 2020 4 67 (4): 898-908. Shinriki S, Maeshiro M, Shimamura K, Kawashima J, Araki E, Ibusuki M, Yamamoto Y, Iwase H, Miyamoto Y, Baba H, Yamaguchi M, Matsui |
| Pseudohypoxic pheochromocytomas and paragangliomas dominate in children. Pediatric blood & cancer 2021 3 68 (7): e28981. Redlich Antje, Pamporaki Christina, Lessel Lienhard, Frühwald Michael C, Vorwerk Peter, Kuhlen Michae |
| SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma. Journal of medical genetics 2021 11 60 (1): 25-32. Bayley Jean Pierre, Bausch Birke, Jansen Jeroen C, Hensen Erik F, van der Tuin Karin, Corssmit Eleonora Pm, Devilee Peter, Neumann Hartmut |
| 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 |
| 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 |
| The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population. International journal of molecular sciences 2024 9 25 (17): . Grigoriy A Yanus, Evgeny N Suspitsin, Evgeny N Imyanit |
| Genetic landscape of Romanian PPGLs. Journal of cellular and molecular medicine 2024 12 28 (23): e70204. Sofia-Maria Lider-Burciulescu, Monica Gheorghiu, Elena Braha, Laura Semonia Stanescu, Attila Patocs, Corin Bad |
| Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genetics in medicine : official journal of the American College of Medical Genetics 2024 11 101246. Jacquelyn Powers, Heather Wachtel, Erica Trujillo, Heena Desai, Ryan Hausler, Laura Conway, Bradley Wubbenhorst, , , Susan M Domchek, Katherine L Nathanson, Kara N Maxwe |
| Outcomes of systemic treatment according to germline mutational status in patients with metastatic pheochromocytoma and paraganglioma. Clinical genitourinary cancer 2024 1 . Young-Gyu Park, Inkeun Park, Yongjae Kim, Ho-Su Lee, Woochang Lee, Shinkyo Yoon, Jae Lyun L |
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