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Number of items: 18.


Gorvin, Caroline M, Stokes, Victoria J, Boon, Hannah, Cranston, Treena, Gluck, Anna K, Bahl, Shailini, Homfray, Tessa, Aung, Theingi, Shine, Brian, Lines, Kate E
et al (show 2 more authors) (2020) Activating Mutations of the G-protein Subunit a 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105 (3). pp. 952-963.


Hannan, Fadil M ORCID: 0000-0002-2975-5170, Olesen, Mie K ORCID: 0000-0003-0338-5690 and Thakker, Rajesh V
(2018) Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway. BRITISH JOURNAL OF PHARMACOLOGY, 175 (21). pp. 4083-4094.


Gorvin, Caroline M, Frost, Morten, Malinauskas, Tomas, Cranston, Treena, Boon, Hannah, Siebold, Christian, Jones, E Yvonne, Hannan, Fadil M ORCID: 0000-0002-2975-5170 and Thakker, Rajesh V
(2018) Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias. HUMAN MOLECULAR GENETICS, 27 (21). pp. 3720-3733.


Howles, Sarah A, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Gorvin, Caroline M, Piret, Sian E, Paudyal, Anju, Stewart, Michelle, Hough, Tertius A, Nesbit, M Andrew, Wells, Sara, Brown, Stephen DM
et al (show 2 more authors) (2017) Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation. JCI insight, 2 (20). 96540-.


Howles, Sarah A, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Babinsky, Valerie N, Rogers, Angela, Gorvin, Caroline M, Rust, Nigel, Nesbit, M Andrew, Thakker, Rajesh V, Richardson, Tristan and McKenna, Malachi J
(2016) Cinacalcet for Symptomatic Hypercalcemia Caused by <i>AP2S1</i> Mutations. NEW ENGLAND JOURNAL OF MEDICINE, 374 (14). pp. 1396-1398.


Hannan, Fadil M ORCID: 0000-0002-2975-5170, Babinsky, Valerie N and Thakker, Rajesh V
(2016) Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. JOURNAL OF MOLECULAR ENDOCRINOLOGY, 57 (3). R127-R142.


Dershem, Ridge, Gorvin, Caroline M, Metpally, Raghu PR, Krishnamurthy, Sarathbabu, Smelser, Diane T, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Carey, David J, Thakker, Rajesh V and Breitwieser, Gerda E
(2020) Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population. AMERICAN JOURNAL OF HUMAN GENETICS, 106 (6). pp. 734-747.


Hannan, Fadil M ORCID: 0000-0002-2975-5170, Newey, Paul J, Whyte, Michael P and Thakker, Rajesh V
(2019) Genetic approaches to metabolic bone diseases. BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, 85 (6). pp. 1147-1160.


Gorvin, Caroline M, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Howles, Sarah A, Babinsky, Valerie N, Piret, Sian E, Rogers, Angela, Freidin, Andrew J, Stewart, Michelle, Paudyal, Anju, Hough, Tertius A
et al (show 6 more authors) (2017) Gα<sub>11</sub> mutation in mice causes hypocalcemia rectifiable by calcilytic therapy. JCI INSIGHT, 2 (3). e91103-.


Stokes, Victoria J, Nielsen, Morten F, Hannan, Fadil M ORCID: 0000-0002-2975-5170 and Thakker, Rajesh V
(2017) Hypercalcemic Disorders in Children. JOURNAL OF BONE AND MINERAL RESEARCH, 32 (11). pp. 2157-2170.


Mannstadt, Michael, Bilezikian, John P, Thakker, Rajesh V, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Clarke, Bart L, Reijnmark, Lars, Mitchell, Deborah M, Vokes, Tamara J, Winer, Karen K and Shoback, Dolores M
(2017) Hypoparathyroidism. NATURE REVIEWS DISEASE PRIMERS, 3 (1). 17055-.


Goljanek-Whysall, Katarzyna ORCID: 0000-0001-8166-8800, Tridimas, Andreas, McCormick, Rachel, Russell, Nicld-Jayne, Sloman, Melissa, Sorani, Alan, Fraser, William D and Hannan, Fadil M ORCID: 0000-0002-2975-5170
(2018) Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia. Bone, 106. pp. 30-34.


Gorvin, Caroline M, Metpally, Raghu, Stokes, Victoria J, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Krishnamurthy, Sarath B, Overton, John D, Reid, Jeffrey G, Breitwieser, Gerda E and Thakker, Rajesh V
(2018) Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling. HUMAN MOLECULAR GENETICS, 27 (5). pp. 901-911.


Gorvin, Caroline M, Loh, Nellie Y, Stechman, Michael J, Falcone, Sara, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Ahmad, Bushra N, Piret, Sian E, Reed, Anita AC, Jeyabalan, Jeshmi, Leo, Paul
et al (show 17 more authors) (2019) Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis. JOURNAL OF BONE AND MINERAL RESEARCH, 34 (7). pp. 1324-1335.


Dharmaraj, Poonam, Gorvin, Caroline M, Soni, Astha, Nelhans, Nick D, Olesen, Mie K ORCID: 0000-0003-0338-5690, Boon, Hannah, Cranston, Treena, Thakker, Rajesh V and Hannan, Fadil M ORCID: 0000-0002-2975-5170
(2020) Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1). JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105 (5). dgaa111-.


Zhang, Chen, Mulpuri, Nagaraju, Hannan, Fadil M ORCID: 0000-0002-2975-5170, Nesbit, M Andrew, Thakker, Rajesh V, Hamelberg, Donald, Brown, Edward M and Yang, Jenny J
(2014) Role of Ca2+ and L-Phe in Regulating Functional Cooperativity of Disease-Associated "Toggle" Calcium-Sensing Receptor Mutations. PLoS ONE, 9 (11). e113622-.


Hannan, Fadil M ORCID: 0000-0002-2975-5170, Kallay, Enikoe, Chang, Wenhan, Brandi, Maria Luisa and Thakker, Rajesh V
(2018) The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases. NATURE REVIEWS ENDOCRINOLOGY, 15 (1). pp. 33-51.


Gorvin, Caroline M, Babinsky, Valerie N, Malinauskas, Tomas, Nissen, Peter H, Schou, Anders J, Hanyaloglu, Aylin C, Siebold, Christian, Jones, E Yvonne, Hannan, Fadil M ORCID: 0000-0002-2975-5170 and Thakker, Rajesh V
(2018) A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate beta-arrestin-biased signaling. SCIENCE SIGNALING, 11 (518). eaan3714-.

This list was generated on Sat Feb 3 05:41:06 2024 GMT.