Literature DB >> 28620806

Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene.

S Borsari1, C Marcocci1, F Cetani2.   

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Year:  2017        PMID： 28620806     DOI： 10.1007/s40618-017-0710-2

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  5 in total

1.  An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.

Authors:  N Chikatsu; S Fukumoto; M Suzawa; Y Tanaka; Y Takeuchi; S Takeda; Y Tamura; T Matsumoto; T Fujita
Journal:  Clin Endocrinol (Oxf)       Date:  1999-04       Impact factor: 3.478

2.  Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.

Authors:  Kozue Miyashiro; Ilda Kunii; Thais Della Manna; Hamilton C de Menezes Filho; Durval Damiani; Nuvarte Setian; Omar M Hauache
Journal:  J Clin Endocrinol Metab       Date:  2004-12       Impact factor: 5.958

3.  A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

Authors:  Steven A Lietman; Yardena Tenenbaum-Rakover; Tjin Shing Jap; Wu Yi-Chi; Yang De-Ming; Changlin Ding; Najat Kussiny; Michael A Levine
Journal:  J Clin Endocrinol Metab       Date:  2009-09-29       Impact factor: 5.958

4.  A homozygous CaSR mutation causing a FHH phenotype completely masked by vitamin D deficiency presenting as rickets.

Authors:  Dorothea Szczawinska; Dirk Schnabel; Saskia Letz; Christof Schöfl
Journal:  J Clin Endocrinol Metab       Date:  2014-02-11       Impact factor: 5.958

5.  Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.

Authors:  K Aida; S Koishi; M Inoue; M Nakazato; M Tawata; T Onaya
Journal:  J Clin Endocrinol Metab       Date:  1995-09       Impact factor: 5.958
  5 in total
  2 in total

1.  Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene.

Authors:  Stephen J Marx; Ninet Sinaii
Journal:  J Clin Endocrinol Metab       Date:  2020-04-01       Impact factor: 5.958

2.  Genotype-Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism.

Authors:  Anima Sharma; Saba Memon; Anurag R Lila; Vijaya Sarathi; Sneha Arya; Swati S Jadhav; Priya Hira; Mahadeo Garale; Vikrant Gosavi; Manjiri Karlekar; Virendra Patil; Tushar Bandgar
Journal:  Calcif Tissue Int       Date:  2022-05-14       Impact factor: 4.000
  2 in total

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