Human Genome Epidemiology Literature Finder
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Records 1 - 21 (of 21 Records) |
| Query Trace: Hyperparathyroidism 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 |
| 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 |
| Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. BMC medical genetics 2017 8 18 (1): 83. Guarnieri Vito, Seaberg Raewyn M, Kelly Catherine, Jean Davidson M, Raphael Simon, Shuen Andrew Y, Baorda Filomena, Palumbo Orazio, Scillitani Alfredo, Hendy Geoffrey N, Cole David E |
| Hyperparathyroidism-Jaw Tumor Syndrome Associated With Large-Scale 1q31 Deletion. Journal of the Endocrine Society 2017 12 1 (7): 926-930. Rubinstein Jill C, Majumdar Sachin K, Laskin William, Lazaga Francisco, Prasad Manju L, Carling Tobias, Khan Sajid |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Oct 1, 2023
- Page last updated:Nov 28, 2023
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