Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene-Reference-Cited by-同舟云学术

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Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene

Published:2004-06-16 Issue:7 Volume:49 Page:380-386
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Balogh Katalin,Patócs Attila,Majnik Judit,Varga Fatima,Illyés György,Hunyady László,Rácz Károly

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200463.pdf

Reference26 articles.

1. Baudin E, Bidart J-M, Rougier P, Lazar V, Ruffié P, Ropers J, Ducreux M, Troalen F, Sabourin J-C, Comoy E, Lasser P, DeBaere T, Schlumberger M (1999) Screening for multiple endocrine neoplasia type 1 and hormonal production in apparently sporadic neuroendocrine tumors. J Clin Endocrinol Metab 84:69–75

2. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJM, Lombardi G, Mannelli M, Pacini F, Ponder BAJ, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomasetti P, Tonelli F, Wells SA, Marx SJ (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658–5671

3. Cebrián A, Ruíz-Llorente S, Cascón A, Osorio A, Martínez-Delgado B, Benítez J, Robledo M (2002) A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformational-sensitive gel electrophoresis. J Hum Genet 47:190–195

4. Chandrasekharappa SC, Guru SC, Manickham P, Olufemi S-E, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276:404–407

5. Correa P, Lundgren E, Rastad J, Akerström G, Westin G, Carling T (2002) Multiple endocrine neoplasia type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism. Surgery 132:450–455

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Case of Pancreatic Neuroendocrine Tumor with Acute Pancreatitis in a Young Man;Nihon Gekakei Rengo Gakkaishi (Journal of Japanese College of Surgeons);2020

2. True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome;Endocrine;2019-05-01

3. Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion;Cancer Genetics;2011-06

4. Parathyroid adenoma and hypercalcemia in a patient presenting with multiple pathological fractures of the long bones;International Journal of Surgery;2008-12

5. MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1;Clinical Endocrinology;2007-11

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