Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 131 Records) |
| Query Trace: Multiple Endocrine Neoplasia Type 1[original query] |
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| ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1). The Journal of clinical endocrinology and metabolism 2020 9 105 (12): e4531-42. Damjanovic Svetozar S, Antic Jadranka A, Elezovic-Kovacevic Valentina I, Dundjerovic Dusko M, Milicevic Ivana T, Beleslin-Cokic Bojana B, Ilic Bojana B, Rodic Gordana S, Berthon Annabel, Maria Andrea Gutierrez, Faucz Fabio R, Stratakis Constantine |
| Distinct Clinical Characteristics in Young-Onset Pancreatic Neuroendocrine Tumor. Cancers 2020 9 12 (9): . Goksu Suleyman Yasin, Ozer Muhammet, Kazmi Syed Mohammad Ali, Sanford Nina Niu, Aguilera Todd A, Ahn Chul, Hsiehchen David, Sanjeevaiah Aravind, Khosama Leticia, Bleeker Jonathan, Atiq Muslim, Beg Muhammad Shaal |
| Understanding the clinical course of genotype-negative MEN1 patients can inform management strategies. Surgery 2020 7 169 (1): 175-184. Pieterman Carolina R C, Hyde Samuel M, Wu Si-Yuan, Landry Jace P, Chiang Yi-Ju, Christakis Ioannis, Grubbs Elizabeth G, Fisher Sarah B, Graham Paul H, Waguespack Steven G, Perrier Nancy |
| Pancreatic Neuroendocrine Neoplasm Associated with a Familial MAX Deletion. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2020 6 52 (11): 784-787. Petignot Sandrine, Daly Adrian F, Castermans Emilie, Korpershoek Esther, Scagnol Irène, Beckers Pablo, Dideberg Vinciane, Rohmer Vincent, Bours Vincent, Beckers Albe |
| Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients. Frontiers in endocrinology 2020 5 11 251. Mathiesen Jes Sloth, Nielsen Søren Grønlund, Rasmussen Åse Krogh, Kiss Katalin, Wadt Karin, Hermann Anne Pernille, Nielsen Morten Frost, Larsen Stine Rosenkilde, Brusgaard Klaus, Frederiksen Anja Lisbeth, Godballe Christian, Rossing Mar |
| 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 |
| 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 |
| Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A. Frontiers in endocrinology 2021 12 12 703410. Matano Fumihiro, Murai Yasuo, Watanabe Atsushi, Shirokane Kazutaka, Igarashi Takehito, Shimizu Kazuo, Shimada Takashi, Morita Ak |
| Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2. Frontiers in endocrinology 2021 12 12 764512. Hansen Anna Reimer, Borgwardt Line, Rasmussen Åse Krogh, Godballe Christian, Poulsen Morten Møller, Vieira Filipe G, Mathiesen Jes Sloth, Rossing Mar |
| Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2). The Korean journal of internal medicine 2021 12 37 (2): 398-410. Lee Ji-Young, Kim Su Yeon, Jo Kwan Hoon, Mo Eun Yeong, Kim Eun Sook, Kim Hye Soo, Han Je Ho, Moon Sung-D |
| Two Distinct Classes of Thymic Tumors in Patients with MEN1 Show LOH at the MEN1 Locus. Endocrine-related cancer 2021 Sep . Mandl Adel, Welch James M, Kapoor Gayathri, Parekh Vaishali I, Schrump David S, Ripley R Taylor, Walter Mary F, Del Rivero Jaydira, Jha Smita, Simonds William F, Jensen Robert T, Weinstein Lee S, Blau Jenny E, Agarwal Sunita |
| 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 |
| Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms. Endocrine connections 2022 9 11 (11): . Lagarde Arnaud, Mougel Grégory, Coppin Lucie, Haissaguerre Magalie, Le Collen Lauriane, Mohamed Amira, Klein Marc, Odou Marie-Françoise, Tabarin Antoine, Brixi Hedia, Cuny Thomas, Delemer Brigitte, Barlier Anne, Romanet Pauli |
| Convergence between germline and somatic mutations in pancreatic neuroendocrine tumors. European journal of endocrinology 2022 5 187 (1): 85-90. Ling Chao, Hong Xiafei, Xu Mengyue, Wang Yutong, Ma Xiaosen, Cui Yunying, Jiang Rui, Cao Dingyan, Wu Huanwen, Tong Anli, Zhao Yupei, Wu Wenmi |
| 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 |
| Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit. International journal of clinical oncology 2022 Feb . Escudero Adela, Ferreras Cristina, Rodriguez-Salas Nuria, Corral Dolores, Rodriguez Laura, Pérez-Martínez Anton |
| Pheochromocytoma recurrence in hereditary disease: does a cortical-sparing technique increase recurrence rate? Surgery 2022 10 173 (1): 26-34. Shirali Aditya S, Clemente-Gutierrez Uriel, Huang Bernice L, Lui Michael S, Chiang Yi-Ju, Jimenez Camilo, Fisher Sarah B, Graham Paul H, Lee Jeffrey E, Grubbs Elizabeth G, Perrier Nancy |
| 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 |
| Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome. Frontiers in endocrinology 2023 7 14 1191040. Laura Pierotti, Elena Pardi, Elisa Dinoi, Paolo Piaggi, Simona Borsari, Simone Della Valentina, Chiara Sardella, Angela Michelucci, Maria Adelaide Caligo, Fausto Bogazzi, Claudio Marcocci, Filomena Ceta |
| 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 |
| The risk of concurrent malignancies in patients with multiple endocrine neoplasia type 1: insights into clinical characteristics of those with multiple endocrine neoplasia type 1. Journal of endocrinological investigation 2023 12 . Yu Xing Zhao, Ou Wang, An Song, Lin Jie Wang, Feng Ying Gong, Lian Duan, Hong Bo Yang, Hui Pan, Hui Juan Z |
| 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 |
| The Long-Term Cure of Patients With Hereditary Medullary Thyroid Carcinoma: 40 Years of Follow-Up in a Single Center. Deutsches Arzteblatt international 2024 9 (Forthcoming): . Friedhelm Raue, Thomas Bruckner, Karin Frank-Ra |
| Phenotype and genotype of patients with multiple endocrine neoplasia type 1 studied in Argentina. Medicina 2024 6 84 (3): 433-444. Patricia Fainstein-Day, Maria Pía Serra, Tomás Fernandez Gianotti, María Belén Bosco, Soledad Bell, María Lorena Vi |
| Genotype-specific development of MEN 2 constituent components in 683 RET carriers. Endocrine-related cancer 2024 5 . Andreas Machens, Kerstin Lorenz, Frank Weber, Tim Brandenburg, Dagmar Führer-Sakel, Henning Dral |
| Pancreatic GHRHomas in Patients with or without Multiple Endocrine Neoplasia Type 1 (MEN 1) : An Analysis of 36 Reported Cases. The journal of medical investigation : JMI 2024 5 71 (1.2): 1-8. Ryuichi Yamasa |
| [Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association]. Medicina 2024 4 84 (2): 347-350. Santiago I Rossi, Silvia Baleani, Ximena Prado, Carolina Pascual, Cecilia Tennina, Pablo Malagrino, Ana Vieites, Alejandro Parra, Mario Cazalla, Jair Tenorio Castano, Pablo Lapunzi |
- Page last reviewed:Feb 1, 2024
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