Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 41 Records) |
Query Trace: CDC73[original query] |
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Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas. Endocrinology 2018 Jul . Wei Zhe, Sun Bin, Wang Zong-Ping, He Jin-Wei, Fu Wen-Zhen, Fan You-Ben, Zhang Zhen-L |
Duodenal-Jejunal Flexure GI Stromal Tumor Frequently Heralds Somatic NF1 and Notch Pathway Mutations. JCO precision oncology 2018 6 2017 . Burgoyne Adam M, De Siena Martina, Alkhuziem Maha, Tang Chih-Min, Medina Benjamin, Fanta Paul T, Belinsky Martin G, von Mehren Margaret, Thorson John A, Madlensky Lisa, Bowler Timothy, D'Angelo Francesco, Stupack Dwayne G, Harismendy Olivier, DeMatteo Ronald P, Sicklick Jason |
Recurrent copy number alterations in young women with breast cancer. Oncotarget 2018 Feb 9 (14): 11541-11558. Chi Chen, Murphy Leigh C, Hu Pingzh |
A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria.
Diabetologia 2019 02 62 (2): 292-305. Ahluwalia Tarunveer S, Schulz Christina-Alexandra, Waage Johannes, Skaaby Tea, Sandholm Niina, van Zuydam Natalie, Charmet Romain, Bork-Jensen Jette, Almgren Peter, Thuesen Betina H, Bedin Mathilda, Brandslund Ivan, Christensen Cramer K, Linneberg Allan, Ahlqvist Emma, Groop Per-Henrik, Hadjadj Samy, Tregouet David-Alexandre, Jørgensen Marit E, Grarup Niels, Pedersen Oluf, Simons Matias, Groop Leif, Orho-Melander Marju, McCarthy Mark I, Melander Olle, Rossing Peter, Kilpeläinen Tuomas O, Hansen Torb |
CDC73 Germline Mutation in a Family With Mixed Epithelial and Stromal Tumors. Urology 2018 11 124 91-97. Vocke Cathy D, Ricketts Christopher J, Ball Mark W, Schmidt Laura S, Metwalli Adam R, Middelton Lindsay A, Killian J Keith, Khan Javed, Meltzer Paul S, Simonds William F, Merino Maria J, Linehan W Marst |
Genomic Profiling of Parathyroid Carcinoma Reveals Genomic Alterations Suggesting Benefit from Therapy. The oncologist 2018 10 24 (6): 791-797. Kang Hyunseok, Pettinga Dean, Schubert Adrian D, Ladenson Paul W, Ball Douglas W, Chung Jon H, Schrock Alexa B, Madison Russell, Frampton Garrett M, Stephens Phil J, Ross Jeffrey S, Miller Vincent A, Ali Siraj |
Mechanisms of primary resistance to EGFR targeted therapy in advanced lung adenocarcinomas. Lung cancer (Amsterdam, Netherlands) 2018 10 124 110-116. Jin Ying, Shi Xun, Zhao Jun, He Qiong, Chen Ming, Yan Junrong, Ou Qiuxiang, Wu Xue, Shao Yang W, Yu Xinm |
Parafibromin-deficient (HPT-JT Type, CDC73 Mutated) Parathyroid Tumors Demonstrate Distinctive Morphologic Features. The American journal of surgical pathology 2018 1 43 (1): 35-46. Gill Anthony J, Lim Grace, Cheung Veronica K Y, Andrici Juliana, Perry-Keene Joanna L, Paik Julie, Sioson Loretta, Clarkson Adele, Sheen Amy, Luxford Catherine, Elston Marianne S, Meyer-Rochow Goswin Y, Nano M Teresa, Kruijff Schelto, Engelsman Anton F, Sywak Mark, Sidhu Stanley B, Delbridge Leigh W, Robinson Bruce G, Marsh Deborah J, Toon Christopher W, Chou Angela, Clifton-Bligh Roderick |
Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations. World journal of surgery 2019 9 44 (2): 508-516. Iacobone Maurizio, Camozzi Valentina, Mian Caterina, Pennelli Gianmaria, Pagetta Costantino, Casal Ide Eric, Masi Giulia, Zovato Stefania, Torresan Frances |
Mutational Signatures in Mandibular Ameloblastoma Correlate with Smoking. Journal of dental research 2019 3 98 (6): 652-658. Guan P, Wong S F, Lim J Q, Ng C C Y, Soong P L, Sim C Q X, Ong C K, Rajasegaran V, Myint S S, Lee J Y, Tan H K, Iyer N G, Soo K C, Teh B T, Tay A B |
Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways. Journal of the Endocrine Society 2019 Mar 3 (3): 544-559. Clarke Callisia N, Katsonis Panagiotis, Hsu Teng-Kuei, Koire Amanda M, Silva-Figueroa Angelica, Christakis Ioannis, Williams Michelle D, Kutahyalioglu Merve, Kwatampora Lily, Xi Yuanxin, Lee Jeffrey E, Koptez E Scott, Busaidy Naifa L, Perrier Nancy D, Lichtarge Olivi |
Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism? European journal of endocrinology 2019 11 182 (1): 57-65. Coppin Lucie, Dufosse Margaux, Romanet Pauline, Giraud Sophie, North Marie-Odile, Cardot Bauters Catherine, Borson-Chazot Françoise, Duchesne Laurence, Métallo Mélanie, Lovecchio Tonio, Barlier Anne, Odou Marie-Françoi |
Whole genome sequencing of apparently mutation-negative MEN1 patients. European journal of endocrinology 2019 10 182 (1): 35-45. Backman Samuel, Bajic Duska, Crona Joakim, Hellman Per, Skogseid Britt, Stålberg Pet |
Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas. The Journal of clinical endocrinology and metabolism 2019 1 104 (6): 1948-1952. Riccardi Aaliyah, Aspir Tori, Shen Lilia, Kuo Chia-Ling, Brown Taylor C, Korah Reju, Murtha Timothy D, Bellizzi Justin, Parham Kourosh, Carling Tobias, Costa-Guda Jessica, Arnold Andr |
Genotype of CDC73 germline mutation determines risk of parathyroid cancer. Endocrine-related cancer 2020 6 27 (9): 483-494. Li Yulong, Zhang Jianhua, Adikaram Poorni R, Welch James, Guan Bin, Weinstein Lee S, Chen Haobin, Simonds William |
The genomic profile of parathyroid carcinoma based on whole-genome sequencing. International journal of cancer 2020 6 147 (9): 2446-2457. Hu Ya, Zhang Xiang, Wang Ou, Bi Yalan, Xing Xiaoping, Cui Ming, Wang Mengyi, Tao Wei, Liao Quan, Zhao Yup |
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population. European journal of endocrinology 2020 12 184 (2): 347-355. El Allali Yasmine, Hermetet Coralie, Bacchetta Justine, Amouroux Cyril, Rothenbuhler Anya, Porquet-Bordes Valérie, Champigny Marie-Alexandrine, Baron Sabine, Barat Pascal, Bony-Trifunovic Hélène, Bourdet Karine, Busiah Kanetee, Cartigny-Maciejewski Maryse, Compain Florence, Coutant Régis, Amsellem-Jager Jessica, De Kerdanet Marc, Magontier Nathalie, Mignot Brigitte, Richard Odile, Rossignol Sylvie, Soskin Sylvie, Berot Aurélie, Naud-Saudreau Catherine, Salles Jean-Pierre, Linglart Agnès, Edouard Thomas, Lienhardt-Roussie An |
Prognostic role of parafibromin staining and CDC73 mutation in patients with parathyroid carcinoma: A systematic review and meta-analysis based on individual patient data. Clinical endocrinology 2020 Jan . Zhu Ruizhe, Wang Zixing, Hu |
Do Patients With Atypical Parathyroid Adenoma Need Close Follow-up? The Journal of clinical endocrinology and metabolism 2021 6 106 (11): e4565-e4579. Saponaro Federica, Pardi Elena, Mazoni Laura, Borsari Simona, Torregrossa Liborio, Apicella Matteo, Frustaci Gianluca, Materazzi Gabriele, Miccoli Paolo, Basolo Fulvio, Marcocci Claudio, Cetani Filome |
A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report. Diagnostic pathology 2022 9 17 (1): 71. Yang Dun, Zheng Jiaoyun, Tang Fei, He Qiongzhi, Huang Hui, Zhou Pe |
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing. Frontiers in endocrinology 2022 5 13 853171. Park Hye-Sun, Lee Yeon Hee, Hong Namki, Won Dongju, Rhee Yum |
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders. European journal of endocrinology 2022 1 186 (3): 351-366. Canaff Lucie, Guarnieri Vito, Kim Yoojung, Wong Betty Y L, Nolin-Lapalme Alexis, Cole David E C, Minisola Salvatore, Eller-Vainicher Cristina, Cetani Filomena, Repaci Andrea, Turchetti Daniela, Corbetta Sabrina, Scillitani Alfredo, Goltzman Dav |
Real-world data of pyrotinib-based therapy for patients with brain metastases of HER2-positive advanced breast cancer: a single-center retrospective analysis and molecular portraits. Frontiers in oncology 2023 7 13 1105474. Hui Wang, Qiaoyan Liu, Mi Zhang, Juan Zhang, Ran Ran, Yingying Ma, Jiao Yang, Fan Wang, Shujuan He, Xiaoai Zhao, Le Wang, Lingxiao Zhang, Danfeng Dong, Jin Ya |
Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single-center study. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2023 7 . An Song, Yi Yang, Yue Jiang, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wa |
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 |
Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort. Frontiers in endocrinology 2023 2 14 1027598. Chen Yingyu, Song An, Nie Min, Jiang Yan, Li Mei, Xia Weibo, Wang Ou, Xing Xiaopi |
Comprehensive genomic analysis of cemento-ossifying fibroma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2023 11 100388. Ricardo Santiago Gomez, Ahmed El Mouatani, Filipe Fideles Duarte-Andrade, Thais Dos Santos Fontes Pereira, Letícia Martins Guimarães, Tenzin Gayden, Damien Faury, Emily M Nakada, Sylvie Langlois, Daniel Sinnett, Wagner Henriques de Castro, Marina Gonçalves Diniz, Nada Jabado, Carolina Cavalieri Gom |
Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort. Frontiers in endocrinology 2023 10 14 1244361. Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocío Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixàs, Mercedes Rig |
Genomic profiling reveals the variant landscape of sporadic parathyroid adenomas in Chinese population. The Journal of clinical endocrinology and metabolism 2023 1 . Tao Xiaohui, Xu Tian, Lin Xiaoyun, Xu Shuqin, Fan Youben, Guo Bomin, Deng Xianzhao, Jiao Qiong, Chen Lihui, Wei Zhe, Chen Chengkun, Yang Wendi, Zhang Zhenlin, Yu Xiangtian, Yue H |
Generation of induced pluripotent stem cell line (MIPTi002-A) derived from a patient with a heterozygous type mutation in the CDC73 gene. Stem cell research 2024 1 75 103311. Almaqdad Alsalloum, Walaa Asaad, Julia Krupinova, Evgenii Kegeles, Polina Sirotkina, Alexandra Panova, Olga Mityaeva, Pavel Volchk |
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- Page last updated:Apr 16, 2024
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