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) ◽

Author(s):

Wael F Elamin ◽

Olivier de Buyl

Keyword(s):

Case Report ◽

Novel Mutation ◽

Receptor Gene ◽

Familial Hypocalciuric Hypercalcemia ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Calcium Sensing Receptor Gene

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

AACE Clinical Case Reports ◽

10.4158/accr-2018-0112 ◽

2018 ◽

Vol 4 (6) ◽

pp. e501-e504

Author(s):

Maali Milhem ◽

Omolola Olajide

Keyword(s):

Case Report ◽

Receptor Gene ◽

Familial Hypocalciuric Hypercalcemia ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Calcium Sensing Receptor Gene

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A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism

HORMONES ◽

10.14310/horm.2002.1711 ◽

2017 ◽

Vol 15 (4) ◽

pp. 557-559 ◽

Author(s):

Marios Papadakis ◽

Natalie Meurer ◽

Theodora Margariti ◽

Anke Meyer ◽

Norbert Weyerbrock ◽

...

Keyword(s):

Primary Hyperparathyroidism ◽

Novel Mutation ◽

Receptor Gene ◽

Familial Hypocalciuric Hypercalcemia ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Calcium Sensing Receptor Gene

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Autosomal dominant hypocalcemia in a Portuguese family: novel mutation in the calcium-sensing receptor gene

Endocrine Abstracts ◽

10.1530/endoabs.49.ep329 ◽

2017 ◽

Author(s):

Vania Gomes ◽

Florbela Ferreira ◽

Catarina Silvestre ◽

Raquel Castro ◽

Bugalho Maria Joao

Keyword(s):

Autosomal Dominant ◽

Novel Mutation ◽

Receptor Gene ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Autosomal Dominant Hypocalcemia ◽

Calcium Sensing Receptor Gene

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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 ◽

Author(s):

David E. C. Cole ◽

Natas??a Janicic ◽

Sonia R. Salisbury ◽

Geoffrey N. Hendy

Keyword(s):

Secondary Hyperparathyroidism ◽

Receptor Gene ◽

Insertion Mutation ◽

Familial Hypocalciuric Hypercalcemia ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Calcium Sensing Receptor Gene

Download Full-text

A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations

BMC Gastroenterology ◽

10.1186/1471-230x-3-34 ◽

2003 ◽

Vol 3 (1) ◽

Author(s):

Peter Felderbauer ◽

Peter Hoffmann ◽

Henrik Einwächter ◽

Kerem Bulut ◽

Nikolaus Ansorge ◽

...

Keyword(s):

Chronic Pancreatitis ◽

Novel Mutation ◽

Receptor Gene ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Calcium Sensing Receptor Gene

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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 ◽

Author(s):

P. Felderbauer ◽

P. Hoffmann ◽

W. Klein ◽

K. Bulut ◽

N. Ansorge ◽

...

Keyword(s):

Gene Mutation ◽

Receptor Gene ◽

Single Strand Conformation Polymorphism ◽

Polymorphism Analysis ◽

Familial Hypocalciuric Hypercalcemia ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Conformation Polymorphism Analysis ◽

Conformation Polymorphism ◽

Calcium Sensing Receptor Gene

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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 ◽

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 Receptor ◽

Calcium Sensing ◽

Activating Mutation ◽

Autosomal Dominant Hypocalcemia ◽

Calcium Sensing Receptor Gene

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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 ◽

Familial Hypocalciuric Hypercalcemia ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Calcium Sensing Receptor Gene

Download Full-text

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 ◽

Familial Hypocalciuric Hypercalcemia ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Calcium Sensing Receptor Gene

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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 ◽

Author(s):

Seong Ill Woo ◽

Hyunju Song ◽

Kyung Eun Song ◽

Dae Jung Kim ◽

Kwan Woo Lee ◽

...

Keyword(s):

Case Report ◽

Receptor Gene ◽

Calcium Sensing Receptor ◽

Calcium Sensing ◽

Calcium Sensing Receptor Gene

Download Full-text