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NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 06/2013, Volume 368, Issue 26, pp. 2476 - 2486
BACKGROUND Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. Type 1 is due to... 
MEDICINE, GENERAL & INTERNAL | HYPOCALCIURIC HYPERCALCEMIA | HYPERPARATHYROIDISM | ACTIVATION | CALCIUM-SENSING RECEPTOR | UVEAL MELANOMA | GENETIC-LINKAGE ANALYSIS | COUPLED RECEPTORS | G(Q) | FAMILIAL BENIGN HYPERCALCEMIA | CA2+-SENSING RECEPTOR
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2013, Volume 45, Issue 1, pp. 93 - 97
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2016, Volume 374, Issue 14, pp. 1396 - 1398
Journal Article
JOURNAL OF BONE AND MINERAL RESEARCH, ISSN 0884-0431, 06/2016, Volume 31, Issue 6, pp. 1207 - 1214
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is... 
ACTIVATION | COMPLEX | MOUSE | DISORDERS | G-PROTEIN | KERATOCONUS | HYPERCALCIURIA | CALCIUM-SENSING RECEPTOR | GENE | WHOLE-EXOME SEQUENCING | HYPOPARATHYROIDISM | GNA11 | CALCIUM | ENDOCRINOLOGY & METABOLISM | TGFBI | Proteins | Genetic aspects | Cellular signal transduction | Parathyroid hormone | Hypocalcemia | Protein binding
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 06/2016, Volume 31, Issue 6, pp. 1207 - 1214
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is... 
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2015, Volume 24, Issue 18, pp. 5079 - 5092
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2013, Volume 368, Issue 26, p. 2478
A study was conducted to evaluate the association, if any, between mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia. Results... 
Causes of | Genetic aspects | Research | G proteins | Gene mutations | Calcium metabolism disorders
Journal Article
Journal of Urology, The, ISSN 0022-5347, 2011, Volume 185, Issue 4, pp. e858 - e858
Journal Article
JCI insight, ISSN 2379-3708, 10/2017, Volume 2, Issue 20
Loss-of-function mutations of GNA11, which encodes G-protein subunit α11 (Gα11), a signaling partner for the calcium-sensing receptor (CaSR), result in... 
Index Medicus
Journal Article
JCI insight, ISSN 2379-3708, 02/2017, Volume 2, Issue 3, p. e91103
Heterozygous germline gain-of-function mutations of G-protein subunit α (Gα ), a signaling partner for the calcium-sensing receptor (CaSR), result in autosomal... 
Journal Article
by Nagel, Joan Davis and Rudick, Joyce and Abramowitch, Steven and Spring, Jillian and Moalli, Pamela and Al Snih, Soham and Samper-Ternent, Rafael and Markides, Kyriakos S and Ottenbacher, Kenneth J and Alley, Dawn and Yerges, Laura and Shardell, Michelle and Metter, E. Jeffrey and Simonsick, Eleanor and Snitker, Soren and Stenholm, Sari and Shuldiner, Alan R and Mitchell, Braxton and Ferrucci, Luigi and Apesoa-Varano, E. Carolina and Hinton, Ladson and Armstrong-Wells, Jennifer and Post, Miriam and Hoover, Whitney and Winn, Virginia and Li, Yan and Gentile, Luciana B and Padmanabha, Divya and Dumur, Catherine I and Baker, Keith D and Baranoski, Amy S and Darcy, Ariana and Michaels, Daniel and Miciek, Renee and Eder, Richard and Storer, Thomas and Montano, Monty and Barr-Anderson, Daheia J and Adams, Alexis W and Beeghly-Fadiel, Alicia and Lu, Wei and Delahanty, Ryan J and Long, Jirong and Zheng, Ying and Ma, Xiangyu and Gao, Yutang and Cai, Qiuyin and Zheng, Wei and Shu, Xiao-Ou and Black, Angela Rose and Bosak, Kelly and Brown, Jessica P and Gravitt, Patti E and Tracy, J. Kathleen and Brown, Laura D and Rozance, Paul J and Thorn, Stephanie R and Friedman, Jacob E and Hay, William W and Castel, Liana D and Hartmann, Katherine and Chen, Heidi and Mayer, Ingrid and Boomershine, Chad and McLellan, Sarah Elizabeth and Cella, David and Catov, Janet M and Dodge, Rhiannon and Roberts, James M and Ness, Roberta B and Chen, Luyun and Yousuf, Aisha and Pacheco, Patricia and Larson, Kindra and Ashton-Miller, James A and DeLancey, John O.L and Ellis, Terry and Cavanaugh, James T and Earhart, Gammon M and Ford, Matthew P and Foreman, K. Bo and Dibble, Leland E and Fields, Julie A and Lunde, Angela M and Hanna, Sherrie M and Smith, Glenn E and Greenaway, Melanie C and Garcia, Lorena and Qi, Lihong and Rasor, Marianne and Bromberger, Joyce and Clark, Cari and Gold, Ellen B and Ghetti, Chiara and Lowder, Jerry L and Skoczylas, Laura C and Nikolajski, Cara and Gill, John C and Martin, Cecilia and Kwong, Cecilia and ...
Journal of Women's Health, ISSN 1540-9996, 10/2011, Volume 20, Issue 10, pp. 1382 - 1413
Journal Article
Journal Article