Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 43 Records) |
Query Trace: Hyperparathyroidism and MEN1[original query] |
---|
MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism. European journal of endocrinology / European Federation of Endocrine Societies 2013 Feb 168 (2): 119-28. Alvelos Maria Inês, Vinagre João, Fonseca Elsa, Barbosa Eva, Teixeira-Gomes José, Sobrinho-Simões Manuel, Soares Pau |
Aryl hydrocarbon receptor interacting protein (AIP) mutations occur rarely in sporadic parathyroid adenomas. The Journal of clinical endocrinology and metabolism 2013 Jul 98 (7): 2800-10. Pardi Elena, Marcocci Claudio, Borsari Simona, Saponaro Federica, Torregrossa Liborio, Tancredi Mariella, Raspini Benedetta, Basolo Fulvio, Cetani Filome |
Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations. European journal of endocrinology / European Federation of Endocrine Societies 2014 Sep 171 (3): 335-42. Longuini Viviane C, Lourenço Delmar M, Sekiya Tomoko, Meirelles Osorio, Goncalves Tatiana D, Coutinho Flavia L, Francisco Guilherme, Osaki Luciana H, Chammas Roger, Alves Venancio A F, Siqueira Sheila A C, Schlesinger David, Naslavsky Michel S, Zatz Mayana, Duarte Yeda A O, Lebrão Maria Lucia, Gama Patricia, Lee Misu, Molatore Sara, Pereira Maria Adelaide A, Jallad Raquel S, Bronstein Marcello D, Cunha-Neto Malebranche B, Liberman Bernardo, Fragoso Maria Candida B V, Toledo Sergio P A, Pellegata Natalia S, Toledo Rodrigo |
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 |
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 |
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 |
MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM. Transactions of the American Clinical and Climatological Association 2017 1 127 235-244. Arnold Andr |
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 |
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 |
Novel Mutations in Serbian MEN1 Patients: Genotype-phenotype Correlation. Journal of medical biochemistry 2019 Mar 38 (1): 38-44. Isailovic Tatjana, Milicevic Ivana, Macut Djuro, Petakov Milan, Ognjanovic Sanja, Popovic Bojana, Antic Ivana Bozic, Bogavac Tamara, Kovacevic Valentina Elezovic, Ilic Dusan, Damjanovic Svetoz |
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 |
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 |
Prevalence of Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in 153 Patients With Multiple Endocrine Neoplasia Type 1: Case Series and Literature Review. Frontiers in endocrinology 2020 10 11 557050. Song An, Yang Yi, Liu Shuzhong, Nie Min, Jiang Yan, Li Mei, Xia Weibo, Wang Ou, Xing Xiaopi |
Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma. Frontiers in endocrinology 2021 5 12 631680. Hu Ya, Zhang Xiang, Wang Ou, Cui Ming, Li Xiaobin, Wang Mengyi, Hua Surong, Liao Qu |
Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2021 4 53 (4): 245-256. Shyamasunder Asha Hesarghatta, Pai Rekha, Ramamoorthy Hemalatha, Sakhti Dhananjayan, Manipadam Marie Therese, Kapoor Nitin, Paul Thomas Vizhalil, Jebasingh Felix, Thomas Nihal, Abraham Deepak Thomas, Paul Mazhuvanchary Jacob, Chacko Ari George, Prabhu Krishna, Rajaratnam Sim |
Multilevel Annotation of Germline MEN1 Variants of Synonymous, Nonsynonymous, and Uncertain Significance in Indian Patients With Sporadic Primary Hyperparathyroidism. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022 7 37 (10): 1860-1875. Kaur Gurjeet, Bhadada Sanjay Kumar, Santra Mithun, Pal Rimesh, Sarma Phulen, Sachdeva Naresh, Dhiman Vandana, Dahiya Divya, Saikia Uma Nahar, Chakraborty Anuradha, Sood Ashwani, Prakash Mahesh, Behera Arunanshu, Rao Sudhaker |
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 |
Management and Long-Term Follow-Up of Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1: Single Center Experience. Journal of clinical medicine 2022 4 11 (7): . Yavropoulou Maria P, Vlachou Sofia, Tsoli Marina, Fostira Florentia, Kaltsas Gregory, Kassi E |
The Importance of Periodical Screening for Primary Hyperparathyroidism in a Pituitary Tumor Cohort in Searching Patients With MEN1 and Its Genetic Profile. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022 Mar . Damianse Sabrina S P, Nascimento Gilvan C, Rocha Viviane C C, Nascimento Ana Gisélia P A C, Gaido Nadja C, Azulay Rossana S S, Dos Santos Wellyandra C, Rodrigues Vandilson P, Quidute Ana Rosa P, Magalhães Marcelo, Dos S Faria Manu |
Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation. BMC endocrine disorders 2022 3 22 (1): 64. Welsch Christoph, Flügel Anna Katharina, Rondot Susanne, Schulze Egbert, Sircar Ishani, Nußbaumer Judith, Bojunga Jö |
[MEN for multiple endocrin neoplasms: When evokate MEN? Update 2022]. La Revue de medecine interne 2022 10 44 (1): 12-18. Duval M, Haissaguerre |
Germline CDKN1B variant type and site are associated with phenotype in MEN4. Endocrine-related cancer 2022 10 30 (1): . Halperin Reut, Arnon Liat, Nasirov Sapir, Friedensohn Limor, Gershinsky Michal, Telerman Alona, Friedman Eitan, Bernstein-Molho Rinat, Tirosh Am |
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 |
Clinical profile and treatment outcomes among patients with sporadic and multiple endocrine neoplasia syndrome-related primary hyperparathyroidism. Clinical endocrinology 2023 7 . Uthara E Mathew, Alpesh Goyal, Ashish D Upadhyay, Devasenathipathy Kandasamy, Shipra Agarwal, Chitresh K Sharma, Arundhati Sharma, Chandrasekhar Bal, Nikhil Tandon, Viveka P Jyots |
Recurrence after Surgery for Primary Hyperparathyroidism in 517 Patients with Multiple Endocrine Neoplasia Type 1. An AFCE and GTE study (Association Francophone de Chirurgie Endocrinienne and Groupe d'étude des Tumeurs Endocrines). Annals of surgery 2023 6 . Nicolas Santucci, Elea Ksiazek, François Pattou, Gregory Baud, Eric Mirallié, Samuel Frey, Christophe Trésallet, Frédéric Sébag, Carole Guérin, Muriel Mathonnet, Niki Christou, Gianluca Donatini, Laurent Brunaud, Sébastien Gaujoux, Fabrice Ménégaux, Haythem Najah, Christine Binquet, Pierre Goudet, Jean-Christophe Lifan |
[Casuistic cases of parathyroid carcinoma with a verified mutation in the MEN1 gene]. Problemy endokrinologii 2023 2 69 (1): 15-27. Pylina S V, Kim E I, Bondarenko E V, Krupinova J A, Eremkina A K, Mokrysheva N |
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 |
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 |
Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes. Surgery 2023 10 . Omair A Shariq, Vitor B Abrantes, Lauren Y Lu, Peter J Tebben, Trenton M Foster, Benzon M Dy, Melanie L Lyden, William F Young, Travis J McKenz |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: