Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene

Calcium Sensing ◽

Inactivating Mutation ◽

Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy

Medicine ◽

10.1097/md.0000000000013128 ◽

2018 ◽

Vol 97 (45) ◽

pp. e13128 ◽

Cited By ~ 1

Author(s):

Xiaomei Sun ◽

Liang Huang ◽

Jin Wu ◽

Yuhong Tao ◽

Fan Yang

Keyword(s):

Receptor Gene ◽

Calcium Sensing ◽

Inactivating Mutation ◽

Identification and functional analysis of a novel inactivating mutation (A804D) of the calcium-sensing receptor gene

Clinical Endocrinology ◽

10.1111/j.1365-2265.2004.02163.x ◽

2004 ◽

Vol 61 (6) ◽

pp. 780-782 ◽

Cited By ~ 3

Author(s):

Kozue Miyashiro ◽

Teresa Sayoko Kasamatsu ◽

Leandra Steinmetz ◽

Hamilton Cabral de Menezes Filho ◽

Durval Damiani ◽

...

Keyword(s):

Functional Analysis ◽

Receptor Gene ◽

Calcium Sensing ◽

Inactivating Mutation ◽

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism—lack of effect of cinacalcet

Bone ◽

10.1016/j.bone.2014.04.010 ◽

2014 ◽

Vol 64 ◽

pp. 102-107 ◽

Cited By ~ 19

Author(s):

Zeynep Atay ◽

Abdullah Bereket ◽

Belma Haliloglu ◽

Saygin Abali ◽

Tutku Ozdogan ◽

...

Keyword(s):

Receptor Gene ◽

Calcium Sensing ◽

Inactivating Mutation ◽

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 ◽

Autosomal Dominant Hypocalcemia ◽

Calcium sensing receptor gene: Analysis of polymorphism frequency

Scandinavian Journal of Clinical and Laboratory Investigation ◽

10.3109/00365519709168318 ◽

1997 ◽

Vol 57 ◽

pp. 122-125 ◽

Cited By ~ 6

Author(s):

L. A. Rubin ◽

V. Peltekova ◽

N. Janicic ◽

C. C. Liew ◽

D. Hwang ◽

...

Keyword(s):

Receptor Gene ◽

Gene Analysis ◽

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 ◽

Familial Hypocalciuric Hypercalcemia ◽

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 ◽

Familial Hypocalciuric Hypercalcemia ◽

Calcium Sensing ◽

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) ◽

Cited By ~ 60

Author(s):

Peter Felderbauer ◽

Peter Hoffmann ◽

Henrik Einwächter ◽

Kerem Bulut ◽

Nikolaus Ansorge ◽

...

Keyword(s):

Chronic Pancreatitis ◽

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 ◽

Familial Hypocalciuric Hypercalcemia ◽

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 ◽