Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene

Receptor Gene ◽

Insertion Mutation ◽

Calcium Sensing ◽

Cole DEC, Janicic N, Salisbury SR, Hendy GN (1997): Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene. Am J Med Genet 71:202-210.

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19971017)72:2<251::aid-ajmg28>3.0.co;2-l ◽

1997 ◽

Vol 72 (2) ◽

pp. 251-252

Keyword(s):

Receptor Gene ◽

Insertion Mutation ◽

Calcium Sensing ◽

A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report

Journal of Medical Case Reports ◽

10.1186/1752-1947-4-349 ◽

2010 ◽

Vol 4 (1) ◽

Cited By ~ 2

Author(s):

Wael F Elamin ◽

Olivier de Buyl

Keyword(s):

Case Report ◽

Novel Mutation ◽

Receptor Gene ◽

Calcium Sensing ◽

Identification of a Novel Calcium-Sensing Receptor Gene Mutation Causing Familial Hypocalciuric Hypercalcemia by Single-Strand Conformation Polymorphism Analysis

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2004-830523 ◽

2005 ◽

Vol 113 (01) ◽

pp. 31-34 ◽

Cited By ~ 12

Author(s):

P. Felderbauer ◽

P. Hoffmann ◽

W. Klein ◽

K. Bulut ◽

N. Ansorge ◽

...

Keyword(s):

Gene Mutation ◽

Receptor Gene ◽

Single Strand Conformation Polymorphism ◽

Polymorphism Analysis ◽

Calcium Sensing ◽

Conformation Polymorphism Analysis ◽

Conformation Polymorphism ◽

A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia

Chinese Medical Journal ◽

10.1097/cm9.0000000000001568 ◽

2021 ◽

Vol Publish Ahead of Print ◽

Author(s):

Nan Li ◽

Xiang Li ◽

Xiao-Lin Ni ◽

Xiu-Ying Li ◽

Wei-Bo Xia ◽

...

Keyword(s):

Autosomal Recessive ◽

Receptor Gene ◽

Autosomal Recessive Inheritance ◽

Homozygous Mutation ◽

Recessive Inheritance ◽

Calcium Sensing ◽

Familial Hypocalciuric Hypercalcemia Caused by an R648stop Mutation in the Calcium-Sensing Receptor Gene

Journal of Bone and Mineral Research ◽

10.1359/jbmr.2002.17.12.2174 ◽

2002 ◽

Vol 17 (12) ◽

pp. 2174-2182 ◽

Cited By ~ 18

Author(s):

Mika Yamauchi ◽

Toshitsugu Sugimoto ◽

Toru Yamaguchi ◽

Shozo Yano ◽

Junning Wang ◽

...

Keyword(s):

Receptor Gene ◽

Calcium Sensing ◽

Molecular Genetic Analysis of the Calcium Sensing Receptor Gene in Patients Clinically Suspected to Have Familial Hypocalciuric Hypercalcemia: Phenotypic Variation and Mutation Spectrum in a Danish Population

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2007-0322 ◽

2007 ◽

Vol 92 (11) ◽

pp. 4373-4379 ◽

Cited By ~ 60

Author(s):

Peter H. Nissen ◽

Signe E. Christensen ◽

Lene Heickendorff ◽

Kim Brixen ◽

Leif Mosekilde

Keyword(s):

Genetic Analysis ◽

Phenotypic Variation ◽

Receptor Gene ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Danish Population ◽

Calcium Sensing ◽

Calcium-sensing receptor gene polymorphisms and their effect on response to cinacalcet treatment in patients with secondary hyperparathyroidism in chronic kidney diseases

Endocrine Abstracts ◽

10.1530/endoabs.70.aep185 ◽

2020 ◽

Author(s):

Lilit Egshatyan ◽

Tamara Filippova ◽

Sevda Nuralieva ◽

Diana Svetlichnaya ◽

Aliy Asanov ◽

...

Keyword(s):

Gene Polymorphisms ◽

Kidney Diseases ◽

Receptor Gene ◽

Chronic Kidney Diseases ◽

Calcium Sensing ◽

Receptor Gene Polymorphisms ◽

A Novel Loss-of-Function Mutation, Gln459Arg, of the Calcium-Sensing Receptor Gene Associated with Apparent Autosomal Recessive Inheritance of Familial Hypocalciuric Hypercalcemia

Endocrine Reviews ◽

10.1210/edrv.30.6.9998 ◽

2009 ◽

Vol 30 (6) ◽

pp. 744-745

Author(s):

Steven A. Lietman ◽

Yardena Tenenbaum-Rakover ◽

Tjin Shing Jap ◽

Wu Yi-Chi ◽

Yang De-Ming ◽

...

Keyword(s):

Autosomal Recessive ◽

Receptor Gene ◽

Autosomal Recessive Inheritance ◽

Recessive Inheritance ◽

Loss Of Function ◽

Calcium Sensing ◽

The Effect of Calcium-Sensing Receptor Gene Polymorphisms on Serum Calcium Levels. A Familial Hypocalciuric Hypercalcemia Family without Mutation in the Calcium-Sensing Receptor Gene.

Endocrine Journal ◽

10.1507/endocrj.47.29 ◽

2000 ◽

Vol 47 (1) ◽

pp. 29-35 ◽

Cited By ~ 7

Author(s):

HIDEMI KANAZAWA ◽

HIROYUKI TANAKA ◽

SOUICHI KODAMA ◽

TADASHI MORIWAKE ◽

MEGUMI KOBAYASHI ◽

...

Keyword(s):

Serum Calcium ◽

Gene Polymorphisms ◽

Receptor Gene ◽

Calcium Sensing ◽

Receptor Gene Polymorphisms ◽

Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients

Scientific Reports ◽

10.1038/srep35188 ◽

2016 ◽

Vol 6 (1) ◽

Cited By ~ 4

Author(s):

Alicja E. Grzegorzewska ◽

Mateusz Paciorkowski ◽

Adrianna Mostowska ◽

Bartosz Frycz ◽

Wojciech Warchoł ◽

...

Keyword(s):

Receptor Gene ◽

Calcium Sensing ◽