PMC Articles for MedGen (Select 884527) - PMC

Angela Rogers, M. Andrew Nesbit, Fadil M. Hannan, Sarah A. Howles, Caroline M. Gorvin, Treena Cranston, Jeremy Allgrove, John S. Bevan, Gul Bano, Caroline Brain, Vipan Datta, Ashley B. Grossman, Shirley V. Hodgson, Louise Izatt, Lynne Millar-Jones, Simon H. Pearce, Lisa Robertson, Peter L. Selby, Brian Shine, Katie Snape, Justin Warner, Rajesh V. Thakker

J Clin Endocrinol Metab. 2014 Jul; 99(7): E1300–E1305. Published online 2014 Apr 7. doi: 10.1210/jc.2013-3909

PMCID:: PMC4447854

Abstract Article

Select item 49064185.

Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia

Joana Regala, Branca Cavaco, Rita Domingues, Catarina Limbert, Lurdes Lopes

J Pediatr Genet. 2015 Mar; 4(1): 29–33. doi: 10.1055/s-0035-1554979

PMCID:: PMC4906418

Abstract Article PDF–154K

Select item 49154956.

Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Sian E Piret, Caroline M Gorvin, Alistair T Pagnamenta, Sarah A Howles, Treena Cranston, Nigel Rust, M Andrew Nesbit, Ben Glaser, Jenny C Taylor, Andreas E Buchs, Fadil M Hannan, Rajesh V Thakker

J Bone Miner Res. 2016 Jun; 31(6): 1207–1214. Published online 2016 Jun 2. doi: 10.1002/jbmr.2797

PMCID:: PMC4915495

Abstract Article PDF–1.3M

Select item 50673757.

Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2

Kelly L. Roszko, Ruiye D. Bi, Michael Mannstadt

Front Physiol. 2016; 7: 458. Published online 2016 Oct 18. doi: 10.3389/fphys.2016.00458

PMCID:: PMC5067375

Abstract Article PDF–331K

Select item 51493948.

Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation

Sirpa Tenhola, Raimo Voutilainen, Monica Reyes, Sanna Toiviainen-Salo, Harald Jüppner, Outi Mäkitie

Eur J Endocrinol. Author manuscript; available in PMC 2016 Dec 11.

Published in final edited form as: Eur J Endocrinol. 2016 Sep; 175(3): 211–218. Published online 2016 Jun 22. doi: 10.1530/EJE-16-0109

PMCID:: PMC5149394

Abstract Article PDF–1.9M

Select item 59308479.

Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia

Anne Qvist Rasmussen, Niklas Rye Jørgensen, Peter Schwarz

Front Endocrinol (Lausanne) 2018; 9: 200. Published online 2018 Apr 25. doi: 10.3389/fendo.2018.00200

PMCID:: PMC5930847

Abstract Article PDF–653K

Select item 674434410.

Treatment of Autosomal Dominant Hypocalcemia Type 1 with the Calcilytic NPSP795 (SHP635)

Mary Scott Roberts, Rachel I. Gafni, Beth Brillante, Lori C. Guthrie, Jamie Streit, David Gash, Jeff Gelb, Eva Krusinska, Sarah C. Brennan, Martin Schepelmann, Daniela Riccardi, Mohd Ezuan Bin Khayat, Donald T. Ward, Edward F. Nemeth, Ralf Rosskamp, Michael T. Collins

J Bone Miner Res. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: J Bone Miner Res. 2019 Sep; 34(9): 1609–1618. Published online 2019 Jul 26. doi: 10.1002/jbmr.3747

PMCID:: PMC6744344

Abstract Article PDF–656K

Select item 704868311.

Activating Mutations of the G-protein Subunit α ₁₁ Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2

Caroline M Gorvin, Victoria J Stokes, Hannah Boon, Treena Cranston, Anna K Glück, Shailini Bahl, Tessa Homfray, Theingi Aung, Brian Shine, Kate E Lines, Fadil M Hannan, Rajesh V Thakker

J Clin Endocrinol Metab. 2020 Mar; 105(3): 952–963. Published online 2019 Dec 10. doi: 10.1210/clinem/dgz251

PMCID:: PMC7048683

Abstract Article

Select item 727353312.

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population

Ridge Dershem, Caroline M. Gorvin, Raghu P.R. Metpally, Sarathbabu Krishnamurthy, Diane T. Smelser, Fadil M. Hannan, David J. Carey, Rajesh V. Thakker, Gerda E. Breitwieser, Regeneron Genetics Center

Am J Hum Genet. 2020 Jun 4; 106(6): 734–747. Published online 2020 May 7. doi: 10.1016/j.ajhg.2020.04.006

PMCID:: PMC7273533

Abstract Article PDF–1.3M

Select item 281130513.

Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea

Mi Yeon Kim, Alice Hyun Kyung Tan, Chang-Seok Ki, Ji In Lee, Hye Won Jang, Hyun Won Shin, Sun Wook Kim, Yong-Ki Min, Myung-Shik Lee, Moon-Kyu Lee, Kwang-Won Kim, Jae Hoon Chung

J Korean Med Sci. 2010 Feb; 25(2): 317–320. Published online 2010 Jan 19. doi: 10.3346/jkms.2010.25.2.317