A NEWLY IDENTIFIED MUTATION IN THE CALCIUM-SENSING RECEPTOR GENE CAUSING FAMILIAL HYPOCALCIURIC HYPERCALCEMIA: A CASE REPORT

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 ◽

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

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19970808)71:2<202::aid-ajmg16>3.0.co;2-i ◽

1997 ◽

Vol 71 (2) ◽

pp. 202-210 ◽

Cited By ~ 64

Author(s):

David E. C. Cole ◽

Natas??a Janicic ◽

Sonia R. Salisbury ◽

Geoffrey N. Hendy

Keyword(s):

Secondary Hyperparathyroidism ◽

Receptor Gene ◽

Insertion Mutation ◽

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 ◽

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

Journal of Korean Medical Science ◽

10.3346/jkms.2010.25.2.317 ◽

2010 ◽

Vol 25 (2) ◽

pp. 317 ◽

Cited By ~ 1

Author(s):

Mi Yeon Kim ◽

Alice Hyun Kyung Tan ◽

Chang-Seok Ki ◽

Ji In Lee ◽

Hye Won Jang ◽

...

Keyword(s):

Case Report ◽

Autosomal Dominant ◽

Receptor Gene ◽

Calcium Sensing ◽

First Case ◽

Activating Mutation ◽

Autosomal Dominant Hypocalcemia ◽

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):

Secondary Hyperparathyroidism ◽

Receptor Gene ◽

Insertion Mutation ◽

Calcium Sensing ◽

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 ◽

A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene

Yonsei Medical Journal ◽

10.3349/ymj.2006.47.2.255 ◽

2006 ◽

Vol 47 (2) ◽

pp. 255 ◽

Cited By ~ 7

Author(s):

Seong Ill Woo ◽

Hyunju Song ◽

Kyung Eun Song ◽

Dae Jung Kim ◽

Kwan Woo Lee ◽

...

Keyword(s):

Case Report ◽

Receptor Gene ◽

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 ◽

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 ◽