Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 227,741,299 papers from all fields of science
Search
Sign In
Create Free Account
Familial benign hypercalcemia
Known as:
Familial Hypocalciuric Hypercalcemia
A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
4 relations
Familial hyperparathyroidism
Hereditary Diseases
Broader (1)
Hyperparathyroidism
Narrower (1)
Hypocalciuric hypercalcemia, familial, type 1
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Familial hyperparathyroidism syndromes
K. Duan
,
O. Mete
2016
Corpus ID: 73787821
2014
2014
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.
G. Hendy
,
L. Canaff
,
+4 authors
D. Cole
Journal of Clinical Endocrinology and Metabolism
2014
Corpus ID: 29371520
CONTEXT Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder with three known subtypes: FHH1, FHH2, and…
Expand
Review
2005
Review
2005
The importance of calcium-binding proteins in childhood diseases.
C. Heizmann
Jornal de Pediatria
2005
Corpus ID: 39904128
2005
2005
Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
P. Felderbauer
,
P. Hoffmann
,
+5 authors
W. Schmidt
Experimental and clinical endocrinology…
2005
Corpus ID: 37563868
Calcium-sensing receptor gene (CASR) mutations that alter the function of the G protein coupled Ca (2+)-sensing receptor are…
Expand
Highly Cited
2002
Highly Cited
2002
Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality?
K. Burski
,
B. Torjussen
,
A. Paulsen
,
H. Boman
,
J. Bollerslev
Journal of Clinical Endocrinology and Metabolism
2002
Corpus ID: 22332795
A middle-aged woman presented with a history of constipation, easy fatigue, depressive mood, lassitude, polydipsia, and polyuria…
Expand
1996
1996
Ca2+-Receptor-Mediated Regulation of Parathyroid and Renal Function
E. Brown
,
S. Hebert
1996
Corpus ID: 72210990
Review
1995
Review
1995
The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing.
E. Brown
,
M. Pollak
,
Y. Chou
,
C. Seidman
,
J. Seidman
,
S. Hebert
Journal of NutriLife
1995
Corpus ID: 24605569
The parathyroid cell detects changes in the extracellular ionized calcium concentration (Ca2 + o) with exquisite sensitivity, but…
Expand
1991
1991
Calcium regulation of parathyroid and C cell function in familial benign hypercalcemia
M. Rajala
,
G. Klee
,
H. Heath
Journal of Bone and Mineral Research
1991
Corpus ID: 25753819
The roles of parathyroid hormone (PTH) and calcitonin (CT) in the pathogenesis of familial benign hypercalcemia (FBH, or…
Expand
1989
1989
Neonatal hyperparathyroidism: the natural course in the absence of surgical intervention.
S. Harris
,
A. D’Ercole
Pediatrics
1989
Corpus ID: 33910272
The case of a premature infant with the onset of hypercalcemia and apparent primary hyperparathyroidism in the immediate neonatal…
Expand
1987
1987
Distribution of serum calcium values in patients with familial benign hypercalcemia (hypocalciuric hypercalcemia): evidence for a discrete genetic defect.
M. Rajala
,
H. Heath
Journal of Clinical Endocrinology and Metabolism
1987
Corpus ID: 22159767
One group has reported hypocalcemic individuals in families affected with familial benign hypercalcemia (FBH), suggesting either…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE