Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Hyperparathyroidism and CDKN1B[original query] |
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| Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. The Journal of clinical endocrinology and metabolism 2007 Aug 92 (8): 3321-5. Georgitsi Marianthi, Raitila Anniina, Karhu Auli, van der Luijt Rob B, Aalfs Cora M, Sane Timo, Vierimaa Outi, Mäkinen Markus J, Tuppurainen Karoliina, Paschke Ralph, Gimm Oliver, Koch Christian A, Gündogdu Sadi, Lucassen Anneke, Tischkowitz Marc, Izatt Louise, Aylwin Simon, Bano Gul, Hodgson Shirley, De Menis Ernesto, Launonen Virpi, Vahteristo Pia, Aaltonen Lauri |
| Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. Clinical endocrinology 2009 Feb 70 (2): 259-64. Igreja Susana, Chahal Harvinder S, Akker Scott A, Gueorguiev Maria, Popovic Vera, Damjanovic Svetozar, Burman Pia, Wass John A, Quinton Richard, Grossman Ashley B, Korbonits Már |
| 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 |
| Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas. The Journal of clinical endocrinology and metabolism 2011 Apr 96 (4): E701-6. Costa-Guda Jessica, Marinoni Ilaria, Molatore Sara, Pellegata Natalia S, Arnold Andr |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| [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 |
| 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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- Page last updated:Nov 30, 2023
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