PubMed for id: 815573

Year	Number of Results
1982	1
1988	1
1990	2
1992	1
1994	1
1995	3
1996	3
1997	1
1998	1
1999	1
2000	5
2001	1
2002	6
2003	3
2004	3
2005	4
2006	1
2007	1
2008	3
2009	3
2010	7
2011	3
2012	2
2013	6
2014	6
2015	8
2016	7
2017	8
2018	7
2019	4
2020	8
2021	4
2022	6
2023	7
2024	3

1

The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.

Kwon EJ, Kim MS, Noh ES, Kim CW, Jang J, Choi JH, Cho SY, Jin DK. Kwon EJ, et al. Ann Clin Lab Sci. 2022 May;52(3):494-498. Ann Clin Lab Sci. 2022. PMID: 35777808 Review.

2

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

Gorvin CM, Stokes VJ, Boon H, Cranston T, Glück AK, Bahl S, Homfray T, Aung T, Shine B, Lines KE, Hannan FM, Thakker RV. Gorvin CM, et al. J Clin Endocrinol Metab. 2020 Mar 1;105(3):952-63. doi: 10.1210/clinem/dgz251. J Clin Endocrinol Metab. 2020. PMID: 31820785 Free PMC article.

3

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

Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV. Piret SE, et al. J Bone Miner Res. 2016 Jun;31(6):1207-14. doi: 10.1002/jbmr.2797. J Bone Miner Res. 2016. PMID: 26818911 Free PMC article.

4

Gα₁₁ mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

Gorvin CM, Hannan FM, Howles SA, Babinsky VN, Piret SE, Rogers A, Freidin AJ, Stewart M, Paudyal A, Hough TA, Nesbit MA, Wells S, Vincent TL, Brown SD, Cox RD, Thakker RV. Gorvin CM, et al. JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103. JCI Insight. 2017. PMID: 28194447 Free PMC article.

5

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.

Babinsky VN, Hannan FM, Gorvin CM, Howles SA, Nesbit MA, Rust N, Hanyaloglu AC, Hu J, Spiegel AM, Thakker RV. Babinsky VN, et al. J Biol Chem. 2016 May 13;291(20):10876-85. doi: 10.1074/jbc.M115.696401. Epub 2016 Mar 18. J Biol Chem. 2016. PMID: 26994139 Free PMC article.

6

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV. Nesbit MA, et al. N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253. N Engl J Med. 2013. PMID: 23802516 Free PMC article.

7

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

Howles SA, Gorvin CM, Cranston T, Rogers A, Gluck AK, Boon H, Gibson K, Rahman M, Root A, Nesbit MA, Hannan FM, Thakker RV. Howles SA, et al. J Bone Miner Res. 2023 Jun;38(6):907-917. doi: 10.1002/jbmr.4803. Epub 2023 Apr 18. J Bone Miner Res. 2023. PMID: 36970776 Free PMC article.

8

Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.

Thapa R, Roy A, Nayek K, Basu A. Thapa R, et al. Calcif Tissue Int. 2024 Feb;114(2):110-118. doi: 10.1007/s00223-023-01142-8. Epub 2023 Dec 11. Calcif Tissue Int. 2024. PMID: 38078932

9

Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.

Ali DS, Marini F, Alsarraf F, Alalwani H, Alamri A, Khan AA, Brandi ML. Ali DS, et al. Front Endocrinol (Lausanne). 2023 Aug 15;14:1215036. doi: 10.3389/fendo.2023.1215036. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37654565 Free PMC article.

10

HDR syndrome, detected in the neonatal period by newborn hearing screening.

Takai S, Adachi M, Takahashi H, Shirakura M, Honkura Y, Yamauchi D, Katori Y. Takai S, et al. Auris Nasus Larynx. 2024 Apr;51(2):406-410. doi: 10.1016/j.anl.2023.08.007. Epub 2023 Aug 27. Auris Nasus Larynx. 2024. PMID: 37640596

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