Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 14 (of 14 Records) |
Query Trace: Familial Isolated Hyperparathyroidism[original query] |
---|
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. Journal of medical genetics 2004 Mar 41 (3): 155-60. Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh B T, Prins J B, Cardinal |
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. Journal of endocrinological investigation 2009 Jun 32 (6): 512-8. Vierimaa O, Villablanca A, Alimov A, Georgitsi M, Raitila A, Vahteristo P, Larsson C, Ruokonen A, Eloranta E, Ebeling T M L, Ignatius J, Aaltonen L A, Leisti J, Salmela P |
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. The Journal of clinical endocrinology and metabolism 2010 Apr 95 (4): 1819-29. Guarnieri Vito, Canaff Lucie, Yun Francisco H J, Scillitani Alfredo, Battista Claudia, Muscarella Lucia A, Wong Betty Y L, Notarangelo Angelantonio, D'Agruma Leonardo, Sacco Michele, Cole David E C, Hendy Geoffrey |
EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms. Endocrine 2016 Feb . Sanpaolo E, Miroballo M, Corbetta S, Verdelli C, Baorda F, Balsamo T, Graziano P, Fabrizio F P, Cinque L, Scillitani A, Muscarella L A, Guarnieri Vi |
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 |
Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism. Journal of the Endocrine Society 2017 12 1 (5): 488-499. Guan Bin, Welch James M, Vemulapalli Meghana, Li Yulong, Ling Hua, Kebebew Electron, Simonds William F, Marx Stephen J, Agarwal Sunita |
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. Surgery 2017 11 163 (1): 31-34. El Lakis Mustapha, Nockel Pavel, Guan Bin, Agarwal Sunita, Welch James, Simonds William F, Marx Stephen, Li Yulong, Nilubol Naris, Patel Dhaval, Yang Lily, Merkel Roxanne, Kebebew Electr |
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 |
UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population. The Journal of clinical endocrinology and metabolism 2018 10 104 (3): 753-764. Romanet Pauline, Mohamed Amira, Giraud Sophie, Odou Marie-Françoise, North Marie-Odile, Pertuit Morgane, Pasmant Eric, Coppin Lucie, Guien Céline, Calender Alain, Borson-Chazot Françoise, Béroud Christophe, Goudet Pierre, Barlier 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 |
GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism. The Journal of clinical endocrinology and metabolism 2021 12 107 (5): e2021-e2026. Vincze Sarah, Peters Nicholas V, Kuo Chia-Ling, Brown Taylor C, Korah Reju, Murtha Timothy D, Bellizzi Justin, Riccardi Aaliyah, Parham Kourosh, Carling Tobias, Costa-Guda Jessica, Arnold Andr |
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 |
GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism. Frontiers in endocrinology 2023 12 14 1254156. Auryan Szalat, Shoshana Shpitzen, Rena Pollack, Haggi Mazeh, Ronen Durst, Vardiella Mein |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 13, 2024
- Content source: