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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 2
2000 1
2001 1
2003 2
2004 1
2006 1
2008 2
2009 1
2014 1
2015 2
2016 3
2017 2
2018 5
2019 1
2020 1
2021 2
2022 1
2023 2
2024 1

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29 results

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Page 1
Osteopetrosis.
Stark Z, Savarirayan R. Stark Z, et al. Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Orphanet J Rare Dis. 2009. PMID: 19232111 Free PMC article. Review.
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. ...Osteope …
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of …
Molecular Definition of Pseudohypoparathyroidism Variants.
Jüppner H. Jüppner H. J Clin Endocrinol Metab. 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060. J Clin Endocrinol Metab. 2021. PMID: 33529330 Free PMC article. Review.
PHP type Ia (PHP1A) is caused by heterozygous inactivating mutations involving the maternal exons 1-13. Heterozygosity of these maternal GNAS mutations cause PTH-resistant hypocalcemia and hyperphosphatemia because paternal Gsalpha expression is suppressed in certai …
PHP type Ia (PHP1A) is caused by heterozygous inactivating mutations involving the maternal exons 1-13. Heterozygosity of these mater …
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV. Hannan FM, et al. Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. Nat Rev Endocrinol. 2018. PMID: 30443043 Free PMC article. Review.
The importance of the CaSR for these calcitropic processes is highlighted by loss-of-function and gain-of-function CaSR mutations that cause familial hypocalciuric hypercalcaemia and autosomal dominant hypocalcaemia, respectively, and also by the fact that al …
The importance of the CaSR for these calcitropic processes is highlighted by loss-of-function and gain-of-function CaSR mutations that cause …
Medical Hypoparathyroidism.
Siraj N, Hakami Y, Khan A. Siraj N, et al. Endocrinol Metab Clin North Am. 2018 Dec;47(4):797-808. doi: 10.1016/j.ecl.2018.07.006. Epub 2018 Oct 11. Endocrinol Metab Clin North Am. 2018. PMID: 30390814 Review.
Hypoparathyroidism is a metabolic disorder characterized by hypocalcemia, hyperphosphatemia, and inadequate levels of or function of parathyroid hormone (PTH). ...
Hypoparathyroidism is a metabolic disorder characterized by hypocalcemia, hyperphosphatemia, and inadequate levels of or function of …
Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.
Wu Y, Zhang C, Huang X, Cao L, Liu S, Zhong P. Wu Y, et al. J Int Med Res. 2022 Jul;50(7):3000605221110489. doi: 10.1177/03000605221110489. J Int Med Res. 2022. PMID: 35818129 Free PMC article. Review.
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare inherited disorder characterized by hypocalcemia with low parathyroid hormone (PTH) levels and high urinary calcium. Its clinical presentation varies from mild asymptomatic to severe hyp …
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare inherited disorder characterized by hypocalcemia …
Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.
The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous ( …
The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hy …
Pseudohypoparathyroidism: one gene, several syndromes.
Tafaj O, Jüppner H. Tafaj O, et al. J Endocrinol Invest. 2017 Apr;40(4):347-356. doi: 10.1007/s40618-016-0588-4. Epub 2016 Dec 19. J Endocrinol Invest. 2017. PMID: 27995443 Review.
Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A). Because of much reduced paternal Gsalpha expression in certain tissues, such as the proximal renal tubules, thyroid, and pituitary, there is little or no Gsalpha protein i …
Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A). Because of much reduced paterna …
New Directions in Treatment of Hypoparathyroidism.
Tabacco G, Bilezikian JP. Tabacco G, et al. Endocrinol Metab Clin North Am. 2018 Dec;47(4):901-915. doi: 10.1016/j.ecl.2018.07.013. Endocrinol Metab Clin North Am. 2018. PMID: 30390821 Review.
In 2015, the Food and Drug Administration approved recombinant human PTH(1-84) [rhPTH(1-84)] as a treatment for hypoparathyroidism. Long-term studies of rhPTH(1-84), up to 6 years, have demonstrated continued efficacy of this replacement agent. ...Calcilytic …
In 2015, the Food and Drug Administration approved recombinant human PTH(1-84) [rhPTH(1-84)] as a treatment for hypoparathyroi …
Advances in the treatment of hypoparathyroidism with PTH 1-34.
Winer KK. Winer KK. Bone. 2019 Mar;120:535-541. doi: 10.1016/j.bone.2018.09.018. Epub 2018 Sep 21. Bone. 2019. PMID: 30243992 Review.
PTH 1-34 delivered by insulin pump normalized serum and urine calcium and markers of bone turnover. Additionally, pump delivery of PTH 1-34 produced stable magnesium values within the normal range and reduced magnesium excretion. ...
PTH 1-34 delivered by insulin pump normalized serum and urine calcium and markers of bone turnover. Additionally, pump delivery of PT …
The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG, Lee CHL, Dimke H, Todd Alexander R. Tan RSG, et al. Exp Biol Med (Maywood). 2021 Nov;246(22):2407-2419. doi: 10.1177/15353702211010415. Epub 2021 Apr 29. Exp Biol Med (Maywood). 2021. PMID: 33926258 Free PMC article. Review.
Mutations in the CaSR cause a range of diseases that manifest in altered serum Ca(2+) levels. Gain-of-function mutations in the CaSR result in autosomal dominant hypocalcemia type 1, while loss-of-function mutations cause familial hypocalciuric hyperca …
Mutations in the CaSR cause a range of diseases that manifest in altered serum Ca(2+) levels. Gain-of-function mutations in the CaSR result …
29 results