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

Polymorphism Analysis ◽

Calcium Sensing ◽

Conformation Polymorphism ◽

Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia

Endocrine Journal ◽

10.1507/endocrj.k10e-178 ◽

2010 ◽

Vol 57 (9) ◽

pp. 787-792 ◽

Cited By ~ 2

Author(s):

Kazuhiro Nanjo ◽

So Nagai ◽

Chikara Shimizu ◽

Toshihiro Tajima ◽

Takuma Kondo ◽

...

Keyword(s):

Functional Analysis ◽

Gene 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 ◽

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 ◽

Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or by SmaI or BstNI cleavage

Human Genetics ◽

10.1007/bf00219695 ◽

1993 ◽

Vol 92 (2) ◽

Author(s):

RichardA. Spritz ◽

StuartA. Holmes

Keyword(s):

Receptor Gene ◽

Growth Factor Receptor ◽

Polymorphism Analysis ◽

Polymerase Chain Reaction Detection ◽

Receptor Gene Polymorphism ◽

Polymerase Chain ◽

Stem Cell Growth Factor ◽

Conformation Polymorphism

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 ◽

High-throughput Single-strand Conformation Polymorphism Analysis of an LPL Gene Mutation by Temperature-controlled On-chip Capillary Electrophoresis

2006 International Conference on Microtechnologies in Medicine and Biology ◽

10.1109/mmb.2006.251527 ◽

2006 ◽

Author(s):

Koichi Ono ◽

Mitsuyasu Koike ◽

Takuhito Ohse ◽

Atsuko Takagi ◽

Yasuyuki Ikeda

Keyword(s):

Capillary Electrophoresis ◽

Gene Mutation ◽

High Throughput ◽

Polymorphism Analysis ◽

Lpl Gene ◽

Temperature Controlled ◽

On Chip ◽

Conformation Polymorphism

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 ◽

Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.77.1.262 ◽

1993 ◽

Vol 77 (1) ◽

pp. 262-266 ◽

Cited By ~ 20

Author(s):

O. Hiort

Keyword(s):

Genetic Counseling ◽

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Polymorphism Analysis ◽

Androgen Insensitivity ◽

Conformation Polymorphism