Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 44 Records) |
Query Trace: Syndrome and RET[original query] |
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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 |
Prevalence, clinicopathologic features, and somatic genetic mutation profile in familial versus sporadic nonmedullary thyroid cancer. Thyroid : official journal of the American Thyroid Association 2011 Apr 21 (4): 367-71. Moses Willieford, Weng Julie, Kebebew Electr |
Pharmacogenetic determinants associated with sunitinib-induced toxicity and ethnic difference in Korean metastatic renal cell carcinoma patients. Cancer chemotherapy and pharmacology 2013 Oct 72 (4): 825-35. Kim Hye Ryun, Park Hyung Soon, Kwon Woo Sun, Lee Ji Hyun, Tanigawara Yusuke, Lim Sun Min, Kim Hyo Song, Shin Sang Jun, Ahn Jung Bae, Rha Sun You |
Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer? Clinical endocrinology 2015 Jun 82 (6): 892-9. Romei Cristina, Tacito Alessia, Molinaro Eleonora, Agate Laura, Bottici Valeria, Viola David, Matrone Antonio, Biagini Agnese, Casella Francesca, Ciampi Raffaele, Materazzi Gabriele, Miccoli Paolo, Torregrossa Liborio, Ugolini Clara, Basolo Fulvio, Vitti Paolo, Elisei Rossel |
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 2015 Apr 148 (4): 771-782.e11. Bonora Elena, Bianco Francesca, Cordeddu Lina, Bamshad Michael, Francescatto Ludmila, Dowless Dustin, Stanghellini Vincenzo, Cogliandro Rosanna F, Lindberg Greger, Mungan Zeynel, Cefle Kivanc, Ozcelik Tayfun, Palanduz Sukru, Ozturk Sukru, Gedikbasi Asuman, Gori Alessandra, Pippucci Tommaso, Graziano Claudio, Volta Umberto, Caio Giacomo, Barbara Giovanni, D'Amato Mauro, Seri Marco, Katsanis Nicholas, Romeo Giovanni, De Giorgio Rober |
A Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma. Thyroid : official journal of the American Thyroid Association 2016 Jul . Opsahl Else Marie, Schlichting Ellen, Helset Kristin, Svartberg Johan, Brauckhoff Katrin, Mæhle Lovise, Engebretsen Lars Fredrik, Sigstad Eva, Grøholt Krystyna, Akslen Lars Andreas, Jørgensen Lars Hilmar, Varhaug Jan Erik, Bjøro Tri |
RET Gene Analysis in Patients with Medullary Thyroid Carcinoma. Clinical laboratory 2016 62 (5): 871-6. Kheiroddin Parastoo, Rasihashemi Seyed-Ziaeddin, Estiar Mehrdad-Asghariari, Mahmudian Babak, Halimi Monireh, Mousavi Fatemeh, Nemati Masoumeh, Sakhinia Ebrah |
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. American journal of medical genetics. Part A 2016 Oct . Murakoshi Miki, Takasawa Kei, Nishioka Masato, Asakawa Masahiro, Kashimada Kenichi, Yoshimoto Takanobu, Yamamoto Toshiyuki, Takekoshi Kazuhiro, Ogawa Yoshihiro, Shimohira Masayu |
Medullary Thyroid Carcinoma Associated with Germline RET Mutation. Thyroid : official journal of the American Thyroid Association 2016 Sep . Xu Jian Yu, Grubbs Elizabeth G, Waguespack Steven G, Jimenez Camilo, Gagel Robert F, Sosa Julie Ann, Vassilopoulou-Sellin Rena, Dadu Ramona, Hu Mimi I, Trotter Chardria S, Jackson Michelle, Rich Thereasa A, Hyde Samuel M, Sherman Steven I, Cote Gilbert |
Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A. Hormones (Athens, Greece) 2016 Jan . Aghdam Maryam Nasiri, Abbaszadegan Mohammad Reza, Tafazoli JAlireza, Aslzare Mohammad, Mosavi Zohr |
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers. Thyroid : official journal of the American Thyroid Association 2017 9 27 (12): 1511-1522. Lebeault Maylis, Pinson Stéphane, Guillaud-Bataille Marine, Gimenez-Roqueplo Anne-Paule, Carrie Alain, Barbu Véronique, Pigny Pascal, Bezieau Stéphane, Rey Jean-Marc, Delvincourt Chantal, Giraud Sophie, Veyrat-Durebex Charlotte, Saulnier Patrick, Bouzamondo Nathalie, Chabbert Marie, Blin Julien, Mohamed Amira, Romanet Pauline, Borson-Chazot Francoise, Rohmer Vincent, Barlier Anne, Mirebeau-Prunier Delphi |
Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population. Endocrine pathology 2017 Jun . Sromek Maria, Czetwerty?ska Ma?gorzata, Tarasi?ska Magdalena, Janiec-Jankowska Aneta, Zub Renata, ?wik?a Maria, Nowakowska Dorota, Chechli?ska Magdale |
Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism. BMC urology 2017 12 17 (1): 112. Mizuno Kentaro, Nakane Akihiro, Nishio Hidenori, Moritoki Yoshinobu, Kamisawa Hideyuki, Kurokawa Satoshi, Kato Taiki, Ando Ryosuke, Maruyama Tetsuji, Yasui Takahiro, Hayashi Yuta |
Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families. Medicine 2017 1 96 (3): e5967. Liu Qiuli, Tong Dali, Yuan Wenqiang, Liu Gaolei, Yuan Gang, Lan Weihua, Zhang Dianzheng, Zhang Jun, Huang Zaoming, Zhang Yao, Jiang J |
Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma. Journal of the Endocrine Society 2018 8 2 (8): 933-943. Raue Friedhelm, Frank-Raue Kar |
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. PLoS genetics 2018 4 14 (4): e1007352. Yehia Lamis, Ni Ying, Sesock Kaitlin, Niazi Farshad, Fletcher Benjamin, Chen Hannah Jin Lian, LaFramboise Thomas, Eng Char |
Modifying impact of RET gene haplotypes on medullary thyroid carcinoma clinical course. Endocrine-related cancer 2018 2 25 (4): 421-436. Kaczmarek-Ry? Marta, Ziemnicka Katarzyna, P?awski Andrzej, Budny Bart?omiej, Michalak Micha?, Hryhorowicz Szymon, Hoppe-Go??biewska Justyna, Boru? Pawe?, Go??b Monika, Czetwerty?ska Ma?gorzata, Sromek Maria, Szalata Marlena, Rucha?a Marek, S?omski Rysza |
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy. JAMA network open 2019 8 2 (8): e198898. Neumann Hartmut P H, Tsoy Uliana, Bancos Irina, Amodru Vincent, Walz Martin K, Tirosh Amit, Kaur Ravinder Jeet, McKenzie Travis, Qi Xiaoping, Bandgar Tushar, Petrov Roman, Yukina Marina Y, Roslyakova Anna, van der Horst-Schrivers Anouk N A, Berends Annika M A, Hoff Ana O, Castroneves Luciana Audi, Ferrara Alfonso Massimiliano, Rizzati Silvia, Mian Caterina, Dvorakova Sarka, Hasse-Lazar Kornelia, Kvachenyuk Andrey, Peczkowska Mariola, Loli Paola, Erenler Feyza, Krauss Tobias, Almeida Madson Q, Liu Longfei, Zhu Feizhou, Recasens Mònica, Wohllk Nelson, Corssmit Eleonora P M, Shafigullina Zulfiya, Calissendorff Jan, Grozinsky-Glasberg Simona, Kunavisarut Tada, Schalin-Jäntti Camilla, Castinetti Frederic, Vlcek Petr, Beltsevich Dmitry, Egorov Viacheslav I, Schiavi Francesca, Links Thera P, Lechan Ronald M, Bausch Birke, Young William F, Eng Charis, |
Role of [68Ga]DOTANOC PET/computed tomography and [131I]MIBG scintigraphy in the management of patients with pheochromocytoma and paraganglioma: a prospective study. Nuclear medicine communications 2020 8 41 (10): 1047-1059. Singh Deepa, Shukla Jaya, Walia Rama, Vatsa Rakhee, Paul Nandini, Chhabra Anupriya, Nahar Uma, Singh Harmandeep, Kumar Rajender, Bhansali Anil, Rai Mittal Bhagwa |
Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China. Translational andrology and urology 2020 5 9 (2): 267-275. Li Minghao, Wang Cikui, Liu Peihua, Qi Lin, Chen Xiang, Fan Benyi, Zhang Xiangyang, Zhang Bo, Xiao Qiao, Yu Anze, Liu Longf |
Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases. Scientific reports 2020 Feb 10 (1): 3368. Trautmann Marcel, Rehkämper Jan, Gevensleben Heidrun, Becker Jessica, Wardelmann Eva, Hartmann Wolfgang, Grünewald Inga, Huss Sebasti |
High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid. Endocrine pathology 2021 7 32 (3): 336-346. Bae Ja-Seong, Jung Seung-Hyun, Hirokawa Mitsuyoshi, Bychkov Andrey, Miyauchi Akira, Lee Sohee, Chung Yeun-Jun, Jung Chan Kw |
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 |
Hereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort. World journal of surgery 2021 2 45 (6): 1785-1793. Valiveru Ramya C, Agarwal Gaurav, Agrawal Vinita, Mayilvaganan Sabaretnam, Chand Gyan, Mishra Anjali, Agarwal Amit, Mishra Saroj Kanta, Bhatia Ee |
Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A. Frontiers in endocrinology 2021 12 12 703410. Matano Fumihiro, Murai Yasuo, Watanabe Atsushi, Shirokane Kazutaka, Igarashi Takehito, Shimizu Kazuo, Shimada Takashi, Morita Ak |
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2. Frontiers in endocrinology 2021 12 12 764512. Hansen Anna Reimer, Borgwardt Line, Rasmussen Åse Krogh, Godballe Christian, Poulsen Morten Møller, Vieira Filipe G, Mathiesen Jes Sloth, Rossing Mar |
Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2022 9 35 (12): 1929-1943. Mafficini Andrea, Simbolo Michele, Shibata Tatsuhiro, Hong Seung-Mo, Pea Antonio, Brosens Lodewijk A, Cheng Liang, Antonello Davide, Sciammarella Concetta, Cantù Cinzia, Mattiolo Paola, Taormina Sergio V, Malleo Giuseppe, Marchegiani Giovanni, Sereni Elisabetta, Corbo Vincenzo, Paolino Gaetano, Ciaparrone Chiara, Hiraoka Nobuyoshi, Pallaoro Daniel, Jansen Casper, Milella Michele, Salvia Roberto, Lawlor Rita T, Adsay Volkan, Scarpa Aldo, Luchini Claud |
[MEN for multiple endocrin neoplasms: When evokate MEN? Update 2022]. La Revue de medecine interne 2022 10 44 (1): 12-18. Duval M, Haissaguerre |
Familial parathyroid tumours-comparison of clinical profiles between syndromes. Journal of endocrinological investigation 2023 2 . Figueiredo A A, Saramago A, Cavaco B M, Simões-Pereira J, Leite |
Case Report: Solid variant of papillary thyroid carcinoma in a young adult with Turner syndrome with chronic thyroiditis. Frontiers in oncology 2023 11 13 1150002. Daichi Murakami, Masayoshi Hijiya, Takuro Iyo, Sachiko Hayata, Takashi Ozaki, Keisuke Enomoto, Masamitsu Kono, Shunji Tamagawa, Muneki Hoto |
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- Page last updated:Apr 22, 2024
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