Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Disease and CDC73[original query] |
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| Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Hormones & cancer 2011 Dec . Starker LF, Akerström T, Long WD, Delgado-Verdugo A, Donovan P, Udelsman R, Lifton RP, Carling T |
| Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2011 1 24 (5): 688-97. Witteveen Janneke E, Hamdy Neveen A T, Dekkers Olaf M, Kievit Job, van Wezel Tom, Teh Bin T, Romijn Johannes A, Morreau Ha |
| Genetic copy number variants in myocardial infarction patients with hyperlipidemia. BMC genomics 2011 Nov 12 Suppl 3 S23. Shia Wei-Chung, Ku Tien-Hsiung, Tsao Yu-Ming, Hsia Chien-Hsun, Chang Yung-Ming, Huang Ching-Hui, Chung Yeh-Ching, Hsu Shih-Lan, Liang Kae-Woei, Hsu Fang-Ro |
| CDC73 mutational status and loss of parafibromin in the outcome of parathyroid cancer. Endocrine connections 2013 2 (4): 186-95. Cetani Filomena, Banti Chiara, Pardi Elena, Borsari Simona, Viacava Paolo, Miccoli Paolo, Torregrossa Liborio, Basolo Fulvio, Pelizzo Maria Rosa, Rugge Massimo, Pennelli Gianmaria, Gasparri Guido, Papotti Mauro, Volante Marco, Vignali Edda, Saponaro Federica, Marcocci Claud |
| Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome. Endocrine connections 2017 9 6 (8): 557-565. Mamedova Elizaveta, Mokrysheva Natalya, Vasilyev Evgeny, Petrov Vasily, Pigarova Ekaterina, Kuznetsov Sergey, Kuznetsov Nikolay, Rozhinskaya Liudmila, Melnichenko Galina, Dedov Ivan, Tiulpakov Anato |
| CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. The Journal of clinical endocrinology and metabolism 2017 10 102 (12): 4534-4540. van der Tuin Karin, Tops Carli M J, Adank Muriel A, Cobben Jan-Maarten, Hamdy Neveen A T, Jongmans Marjolijn C, Menko Fred H, van Nesselrooij Bernadette P M, Netea-Maier Romana T, Oosterwijk Jan C, Valk Gerlof D, Wolffenbuttel Bruce H R, Hes Frederik J, Morreau Ha |
| Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features. PloS one 2017 10 12 (10): e0186485. Pardi Elena, Borsari Simona, Saponaro Federica, Bogazzi Fausto, Urbani Claudio, Mariotti Stefano, Pigliaru Francesca, Satta Chiara, Pani Fabiana, Materazzi Gabriele, Miccoli Paolo, Grantaliano Lorena, Marcocci Claudio, Cetani Filome |
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 |
| 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 |
| 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 |
| 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 |
| 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 |
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