CrossRef Text and Data Mining
Result of CrossRef Text and Data Mining Search is the related articles with entitled article. If you click link1 or link2 you will be able to reach the full text site of selected articles; however, some links do not show the full text immediately at now. If you click CrossRef Text and Data Mining Download icon, you will be able to get whole list of articles from literature included in CrossRef Text and Data Mining.
Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C
Keun Hee Choi, Choong Ho Shin, Sei Won Yang, Hae Il Cheong
Clin Exp Pediatr. 2015;58(4):148-153.   Published online April 22, 2015
DOI: https://doi.org/10.3345/kjp.2015.58.4.148

Excel Download

Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C
Korean Journal of Pediatrics. 2015;58(4):148   Crossref logo
Link1

Abstract #173 Autosomal Dominant Hypocalcemia: A Novel Activating Mutation NM_000388.3(CASR):C.825 T>A P.(ASP 275 GLU) In the Calcium-Sensing Receptor Gene
Endocrine Practice. 2019;25:45-46   Crossref logo
Link1 Link2

Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia
Frontiers in Endocrinology. 2018;9:   Crossref logo
Link1

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia
Journal of Human Genetics. 2001;46(1):41-44   Crossref logo
Link1 Link2 Link3

Three Novel Activating Mutations in the Calcium-Sensing Receptor Responsible for Autosomal Dominant Hypocalcemia
Molecular Genetics and Metabolism. 2000;71(4):591-598   Crossref logo
Link1 Link2

Amino Alcohol- (NPS-2143) and Quinazolinone-Derived Calcilytics (ATF936 and AXT914) Differentially Mitigate Excessive Signalling of Calcium-Sensing Receptor Mutants Causing Bartter Syndrome Type 5 and Autosomal Dominant Hypocalcemia
PLoS ONE. 2014;9(12):e115178   Crossref logo
Link1

Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia
Molecular and Cellular Endocrinology. 2015;407:18-25   Crossref logo
Link1 Link2

A Woman and Her Father with Calcium-Sensing Receptor Mutation and Autosomal Dominant Hypocalcemia
AACE Clinical Case Reports. 2016;2(1):e50-e53   Crossref logo
Link1 Link2

A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia
American Journal of Medical Genetics Part A. 2004;132A(2):125-129   Crossref logo
Link1 Link2

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1)
Endocrinology. 2015;156(9):3114-3121   Crossref logo
Link1 Link2