Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation (vol 58, pg 199, 2003)

被引：1
|
作者：
Cetani, F
Pardi, E
Borsari, S
Tonacchera, M
Morabito, E
Pinchera, A
Marcocci, C
Dipollina, G
机构：
来源：
CLINICAL ENDOCRINOLOGY | 2003年 / 58卷 / 05期
关键词：
D O I：
10.1046/j.1365-2265.2001.01365.x-i1
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：671 / 671
页数：1
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  • [1] Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation
    Cetani, F
    Pardi, E
    Borsari, S
    Tonacchera, M
    Morabito, E
    Pinchera, A
    Marcocci, C
    [J]. CLINICAL ENDOCRINOLOGY, 2003, 58 (02) : 199 - 206
  • [2] Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia
    Cetani, Filomena
    Lemmi, Monica
    Cervia, Davide
    Borsari, Simona
    Cianferotti, Luisella
    Pardi, Elena
    Ambrogini, Elena
    Banti, Chiara
    Brown, Edward M.
    Bagnoli, Paola
    Pinchera, Aldo
    Marcocci, Claudio
    [J]. EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2009, 160 (03) : 481 - 489
  • [3] Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia
    Ward, BK
    Magno, AL
    Blitvich, BJ
    Rea, AJ
    Stuckey, BGA
    Walsh, JP
    Ratajczak, T
    [J]. CLINICAL ENDOCRINOLOGY, 2006, 64 (05) : 580 - 587
  • [4] Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia
    不详
    [J]. CALCIFIED TISSUE INTERNATIONAL, 2006, 78 : S98 - S98
  • [5] Familial hypocalciuric hypercalcemia associated with a novel homozygous loss-of-function mutation, E671D, of the calcium-sensing receptor gene
    Cetani, Filomena
    Borsari, Simona
    Pardi, Elena
    Bagattini, Brunella
    Saponaro, Federica
    Marcocci, Claudio
    [J]. JOURNAL OF BONE AND MINERAL RESEARCH, 2014, 29 : S485 - S485
  • [6] A Novel Loss-of-Function Mutation, Gln459Arg, of the Calcium-Sensing Receptor Gene Associated with Apparent Autosomal Recessive Inheritance of Familial Hypocalciuric Hypercalcemia
    Lietman, Steven A.
    Tenenbaum-Rakover, Yardena
    Jap, Tjin Shing
    Yi-Chi, Wu
    De-Ming, Yang
    Ding, Changlin
    Kussiny, Najat
    Levine, Michael A.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (11): : 4372 - 4379
  • [7] Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: Modulation of clinical severity by vitamin D status
    Zajickova, Katerina
    Vrbikova, Jana
    Canaff, Lucie
    Pawelek, Peter D.
    Goltzman, David
    Hendy, Geoffrey N.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (07): : 2616 - 2623
  • [8] Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism (vol 82, pg 2719, 1997)
    Kobayashi, M
    Tanaka, H
    Tsuzuki, K
    Tsuyuki, M
    Igaki, H
    Ichinose, Y
    Aya, K
    Nishioka, N
    Seino, Y
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1997, 82 (09): : 2825 - 2825
  • [9] Identification, functional characterization and molecular modeling of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: Modulation of clinical severity by vitamin D status
    Zajickova, K.
    Vrbikoval, J.
    Canaff, L.
    Pawelek, P. D.
    Goltzman, D.
    Hendy, G. N.
    [J]. BONE, 2007, 40 (06) : S237 - S238
  • [10] Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation
    Auryan Szalat
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    Gabriel Munter
    David Gillis
    Ronen Durst
    Dror Mevorach
    Eran Leitersdorf
    Vardiella Meiner
    Haim Rosen
    [J]. Endocrine, 2015, 48 : 444 - 453
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