Endocrinology and Metabolism

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A Case of Familial Isolated Primary Hyperparathyroidism with a Novel Gene Mutation.

Sung Woo Kim, Seung Jun Lee, Hyun Suk Kim, Ji Youn Kim, Eui Dal Jung, Duk Su Jung

Endocrinol Metab. 2010;25(4):374-377. Published online December 1, 2010
DOI: https://doi.org/10.3803/EnM.2010.25.4.374

A Case of Familial Isolated Primary Hyperparathyroidism with a Novel Gene Mutation

Sung Woo Kim, Seung Jun Lee, Hyun Suk Kim, Ji Youn Kim, Eui Dal Jung, Duk Su Jung

Endocrinology and Metabolism. 2010;25(4):374

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SAT-370 Novel CASR Gene Mutation as a Cause of Familial Isolated Primary Hyperparathyroidism

Andrea K Juneau, Adwoa Opoku-Boateng, Gabriel Ikponmosa Uwaifo

Journal of the Endocrine Society. 2020;4(Supplement_1):

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Isolated Familial Hyperparathyroidism with a Novel Mutation of the Men1 Gene

Arcot A. Dwarakanathan, Sander Zwart, Rebecca C. Oathus

Endocrine Practice. 2000;6(3):268-270

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Familial isolated primary hyperparathyroidism due to HRPT2 mutation

Adina Ghemigian, Mircea Ghemigian, Irina Popescu, Lavinia Vija, Eugenia Petrova, Nicoleta Dumitru, Dumitru Ioachim

Hormones. 2013;12(3):454-460

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Familial isolated primary hyperparathyroidism with parathyroid carcinomas: clinical and molecular features

Katsuhiko Yoshimoto, Hideko Endo, Masaru Tsuyuguchi, Chisato Tanaka, Takehiko Kimura, Hiroyuki Iwahana, Genichi Kato, Toshiaki Sano, Mitsuo Itakura

Clinical Endocrinology. 1998;48(1):67-72

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A Patient with Primary Hyperparathyroidism Associated with Familial Hypocalciuric Hypercalcemia Induced by a Novel Germline CaSR Gene Mutation

Tomonori Yabuta, Akira Miyauchi, Hiroyuki Inoue, Hiroshi Yoshida, Mitsuyoshi Hirokawa, Nobuyuki Amino

Asian Journal of Surgery. 2009;32(2):118-122

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Primary Hyperparathyroidism and Jaw Tumor Syndrome: A Novel Mutation of the HRPT2 Gene

Anders L. Carlson, Charles L. Smith

Endocrine Practice. 2008;14(6):743-747

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A Case of Apparently Sporadic Primary Hyperparathyroidism Carrying a Germline Mutation of CDC73 Gene

Laura Mazoni, Matteo Apicella, Filomena Cetani, Claudio Marcocci

A Case-Based Guide to Clinical Endocrinology. 2022;217-222

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Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene

Aoife M. Egan, James Ryan, Mardiana A. Aziz, Tadhg P. O’Dwyer, Maria M. Byrne

Journal of Bone and Mineral Metabolism. 2012;31(4):477-480

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Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism

Filomena Cetani, Elena Pardi, Anna Giovannetti, Edda Vignali, Simona Borsari, Franco Golia, Luisella Cianferotti, Paolo Viacava, Paolo Miccoli, Maurizio Gasperi, Aldo Pinchera, Claudio Marcocci

Clinical Endocrinology. 2002;56(4):457-464

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