HuGE Literature Finder
Records 1-30
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Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.
Clinical endocrinology 2021 Mar . Petenuci Janaina, Guimaraes Augusto G, Fagundes Gustavo F C, Benedetti Anna Flavia F, Afonso Ana Caroline F, Pereira Maria Adelaide A, Zerbini Maria Claudia N, Siqueira Sheila, Yamauchi Fernando, Soares Silvia C, Srougi Victor, Tanno Fabio Y, Chambo Jose L, Lopes Roberto I, Denes Francisco T, Hoff Ana O, Latronico Ana Claudia, Mendonca Berenice B, Fragoso Maria Candida B V, Almeida Madson |
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Genotype-phenotype correlation in von Hippel-Lindau disease.
Acta ophthalmologica 2021 Mar . Reich Michael, Jaegle Sabine, Neumann-Haefelin Elke, Klingler Jan-Helge, Evers Charlotte, Daniel Moritz, Bucher Felicitas, Ludwig Franziska, Nuessle Simone, Kopp Julia, Boehringer Daniel, Reinhard Thomas, Lagrèze Wolf A, Lange Clemens, Agostini Hansjuergen, Lang Stefan |
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Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.
Journal of kidney cancer and VHL 2021 8 (1): 19-24. Yalcintepe Sinem, Gurkan Hakan, Korkmaz Fatma Nur, Demir Selma, Atli Engin, Eker Damla, Guler Hazal Sezginer, Zhuri Drenusha, Atli Emine Ikbal, Salt Semra Ayturk, Sahin Mustafa, Guldiken Sib |
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The Genotype-Phenotype Association of Von Hipple Lindau Disease Based on Mutation Locations: A Retrospective Study of 577 Cases in a Chinese Population.
Frontiers in genetics 2020 11 532588. Qiu Jianhui, Zhang Kenan, Ma Kaifang, Zhou Jingcheng, Gong Yanqing, Cai Lin, Gong K |
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Genotype-phenotype correlations in pheochromocytoma and paraganglioma: a systematic review and individual patient meta-analysis.
Endocrine-related cancer 2019 Mar . Crona Joakim, Lamarca Angela, Ghosal Suman, Welin Staffan, Skogseid Britt, Pacak Kar |
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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 |
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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 |
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Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors.
Surgery 2017 01 161 (1): 220-227. Babic Bruna, Patel Dhaval, Aufforth Rachel, Assadipour Yasmine, Sadowski Samira M, Quezado Martha, Nilubol Naris, Prodanov Tamara, Pacak Karel, Kebebew Electr |
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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 |
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Genotype-Dependent Brown Adipose Tissue Activation in Patients With Pheochromocytoma and Paraganglioma.
The Journal of clinical endocrinology and metabolism 2015 Nov jc20153205. Puar Troy, van Berkel Anouk, Gotthardt Martin, Havekes Bas, Hermus Ad R M M, Lenders Jacques W M, van Marken Lichtenbelt Wouter D, Xu Ying, Brans Boudewijn, Timmers Henri J L |
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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 |
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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 |
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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 |
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Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.
Clinical genetics 2014 Nov 86 (5): 482-6. Kim J H, Seong M-W, Lee K E, Choi H J, Ku E J, Bae J H, Park S S, Choi S H, Kim S W, Shin Cs, Kim S |
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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 |
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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 |
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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 |
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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 |
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Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.
Clinical endocrinology 2012 Nov 77 (5): 707-14. Takeichi Naomi, Midorikawa Sanae, Watanabe Atsushi, Naing Banyar Than, Tamura Hideki, Wakakuri-Kano Toshiko, Ishizaki Akira, Sugihara Hitoshi, Nissato Sumiko, Saito Yuria, Aita Yuichi, Ishii Kiyo-aki, Igarashi Takehito, Kawakami Yasushi, Hara Hisato, Ikeda Tatsuhiko, Shimizu Kazuo, Suzuki Shinichi, Shimano Hitoshi, Kawamoto Masashi, Shimada Takashi, Watanabe Tsuyoshi, Oikawa Shinichi, Takekoshi Kazuhi |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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, |
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Genotype-phenotype correlations in VHL exon deletions.
American journal of medical genetics. Part A 2009 Oct 149A (10): 2147-51. McNeill Alisdair, Rattenberry Eleanor, Barber Richard, Killick Pip, MacDonald Fiona, Maher Eamonn |
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[Genetic detection and analysis of the VHL gene in patients with sporadic pheochromocytoma].
Zhonghua zhong liu za zhi [Chinese journal of oncology] 2009 May 31 (5): 361-5. Zhang Bin, Wang Yang-min, Wang Nan, Ha Xiao-qin, Dong Yong-chao, Zhou Da-h |
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Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas.
Endokrynologia Polska 0 61 (1): 43-8. Krawczyk Aleksandra, Hasse-Lazar Kornelia, Pawlaczek Agnieszka, Szpak-Ulczok Sylwia, Krajewska Jolanta, Paliczka-Cie?lak Ewa, Jurecka-Lubieniecka Beata, Roskosz Józef, Chmielik Ewa, Ziaja Jacek, Cierpka Lech, Peczkowska Mariola, Preibisz Aleksander, Januszewicz Andrzej, Otto Maciej, Jarzab Barba |
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Germline mutations in the von Hippel-Lindau gene in Italian patients.
European journal of medical genetics 0 52 (5): 311-4. Ciotti Paola, Garuti Anna, Gulli Rossella, Ballestrero Alberto, Bellone Emilia, Mandich Pao |
- Page last reviewed:Oct 1, 2020
- Page last updated:Sep 16, 2021
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