Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: Hyperparathyroidism and RET[original query] |
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[Genetic screening of multiple endocrine neoplasia type 2: experience of the USP Endocrine Genetics Unit]. Arquivos brasileiros de endocrinologia e metabologia 2006 Feb 50 (1): 7-16. Santos Marcelo A C G dos, Nunes Adriana Bezerra, Abelin Neusa, Ezabella Marilza C L, Toledo Rodrigo de Almeida, Lourenço Delmar, Hayashida Cesar Yoiti, Fonseca Ivone Izabel M da, Toledo Sergio P de Almei |
Change in the spectrum of RET mutations diagnosed between 1994 and 2006. Clinical laboratory 2007 53 (5-6): 273-82. Frank-Raue Karin, Rondot Susanne, Schulze Egbert, Raue Friedhe |
RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype. Thyroid : official journal of the American Thyroid Association 2007 Feb 17 (2): 101-4. Pinna Giovanni, Orgiana Giuseppina, Riola Alessia, Ghiani Mariangela, Lai Maria Letizia, Carcassi Carlo, Mariotti Stefa |
The RET polymorphic allele S836S is associated with early metastatic disease in patients with hereditary or sporadic medullary thyroid carcinoma. Endocrine-related cancer 2010 Dec 17 (4): 953-63. Siqueira Débora R, Romitti Mírian, da Rocha Andreia P, Ceolin Lucieli, Meotti Camila, Estivalet Aline, Puñales Marcia K, Maia Ana Lui |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Human mutation 2011 Jan 32 (1): 51-8. Frank-Raue Karin, Rybicki Lisa A, Erlic Zoran, Schweizer Heiko, Winter Aurelia, Milos Ioana, Toledo Sergio P A, Toledo Rodrigo A, Tavares Marcos R, Alevizaki Maria, Mian Caterina, Siggelkow Heide, Hüfner Michael, Wohllk Nelson, Opocher Giuseppe, Dvo?áková Sárka, Bendlova Bela, Czetwertynska Ma?gorzata, Skasko El?bieta, Barontini Marta, Sanso Gabriela, Vorländer Christian, Maia Ana Luiza, Patocs Attila, Links Thera P, de Groot Jan Willem, Kerstens Michiel N, Valk Gerlof D, Miehle Konstanze, Musholt Thomas J, Biarnes Josefina, Damjanovic Svetozar, Muresan Mihaela, Wüster Christian, Fassnacht Martin, Peczkowska Mariola, Fauth Christine, Golcher Henriette, Walter Martin A, Pichl Josef, Raue Friedhelm, Eng Charis, Neumann Hartmut P H, |
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 |
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 |
Screening of RET gene mutations in Chinese patients with medullary thyroid carcinoma and their relatives. Familial cancer 2015 Aug . Wang Junyi, Zhang Bin, Liu Wensheng, Zhang Yongxia, Di Xuebing, Yang Yanmei, Yan Dang |
The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A. Endocrine pathology 2016 Oct . Grey William, Hulse Rosaline, Yakovleva Anna, Genkova Dilyana, Whitelaw Benjamin, Solomon Ellen, Diaz-Cano Salvador J, Izatt Loui |
Medullary Thyroid Carcinoma Associated with Germline RET Mutation. Thyroid : official journal of the American Thyroid Association 2016 Sep . Xu Jian Yu, Grubbs Elizabeth G, Waguespack Steven G, Jimenez Camilo, Gagel Robert F, Sosa Julie Ann, Vassilopoulou-Sellin Rena, Dadu Ramona, Hu Mimi I, Trotter Chardria S, Jackson Michelle, Rich Thereasa A, Hyde Samuel M, Sherman Steven I, Cote Gilbert |
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers. Thyroid : official journal of the American Thyroid Association 2017 9 27 (12): 1511-1522. Lebeault Maylis, Pinson Stéphane, Guillaud-Bataille Marine, Gimenez-Roqueplo Anne-Paule, Carrie Alain, Barbu Véronique, Pigny Pascal, Bezieau Stéphane, Rey Jean-Marc, Delvincourt Chantal, Giraud Sophie, Veyrat-Durebex Charlotte, Saulnier Patrick, Bouzamondo Nathalie, Chabbert Marie, Blin Julien, Mohamed Amira, Romanet Pauline, Borson-Chazot Francoise, Rohmer Vincent, Barlier Anne, Mirebeau-Prunier Delphi |
Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma. Journal of the Endocrine Society 2018 8 2 (8): 933-943. Raue Friedhelm, Frank-Raue Kar |
Modifying impact of RET gene haplotypes on medullary thyroid carcinoma clinical course. Endocrine-related cancer 2018 2 25 (4): 421-436. Kaczmarek-Ry? Marta, Ziemnicka Katarzyna, P?awski Andrzej, Budny Bart?omiej, Michalak Micha?, Hryhorowicz Szymon, Hoppe-Go??biewska Justyna, Boru? Pawe?, Go??b Monika, Czetwerty?ska Ma?gorzata, Sromek Maria, Szalata Marlena, Rucha?a Marek, S?omski Rysza |
Clinical utility of genetic diagnosis for sporadic and hereditary medullary thyroid carcinoma. Annales d'endocrinologie 2019 5 80 (3): 187-190. Elisei Rossella, Bottici Valeria, Cappagli Virginia, Ramone Teresa, Tacito Alessia, Ciampi Raffaele, Romei Cristi |
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 |
Hereditary medullary thyroid carcinoma syndromes: experience from western India. Familial cancer 2021 1 20 (3): 241-251. Diwaker Chakra, Sarathi Vijaya, Jaiswal Sanjeet Kumar, Shah Ravikumar, Deshmukh Anuja, Thomas Anand Ebin, Prakash Gagan, Malhotra Gaurav, Patil Virendra, Lila Anurag, Shah Nalini, Bandgar Tush |
Medullary thyroid cancer with RET V804M mutation: more indolent than expected? Surgery 2022 9 173 (1): 260-267. Frisco Nicholas A, Gunn Alexander H, Thomas Samantha M, Stang Michael T, Scheri Randall P, Kazaure Hadiza |
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 |
[MEN for multiple endocrin neoplasms: When evokate MEN? Update 2022]. La Revue de medecine interne 2022 10 44 (1): 12-18. Duval M, Haissaguerre |
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 |
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families. European journal of endocrinology 2023 9 189 (3): 402-408. Axelle Vuylsteke, Laurens Hannes, Hilde Brems, Koen Devis, Marleen Renard, Anne Uyttebroeck, Eric Legius, Brigitte Decallon |
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 characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study. Frontiers in endocrinology 2023 11 14 1268193. Rachel Chava Rosenblum, Dania Hirsch, Simona Grozinsky-Glasberg, Carlos Benbassat, Uri Yoel, Avraham Ishay, Sagit Zolotov, Gideon Bachar, Ehud Banne, Sigal Levy, Orit Twi |
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:Apr 22, 2024
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