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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 23, 2023. (Total: 221382Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Hypercalciuria and CASR[original query]
Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients.
Journal of the American Society of Nephrology : JASN 2002 Oct 13 (10): 2517-23.
Vezzoli Giuseppe, Tanini Annalisa, Ferrucci Luigi, Soldati Laura, Bianchin Cristiana, Franceschelli Francesco, Malentacchi Cecilia, Porfirio Berardino, Adamo Donatella, Terranegra Annalisa, Falchetti Alberto, Cusi Daniele, Bianchi Giuseppe, Brandi Maria Lui
R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria.
Kidney international 2007 Jun 71 (11): 1155-62.
Vezzoli G, Terranegra A, Arcidiacono T, Biasion R, Coviello D, Syren M L, Paloschi V, Giannini S, Mignogna G, Rubinacci A, Ferraretto A, Cusi D, Bianchi G, Soldati
Heterogeneous disease modeling for Hardy-Weinberg disequilibrium in case-control studies: application to renal stones and calcium-sensing receptor polymorphisms.
Annals of human genetics 2009 Mar 73 (2): 176-83.
Hamilton D C, Grover V K, Smith C A, Cole D E
Association between calcium-sensing receptor gene polymorphisms and recurrent calcium kidney stone disease: a comprehensive gene analysis.
Scandinavian journal of urology and nephrology 2010 Dec 44 (6): 406-12.
Shakhssalim Nasser, Kazemi Bahram, Basiri Abbas, Houshmand Massoud, Pakmanesh Hamid, Golestan Banafsheh, Eilanjegh Abolfazl Faraji, Kashi Amir Hossein, Kilani Mahboobeh, Azadvari Mohaddes
Interleukin-1ß, calcium-sensing receptor, and urokinase gene polymorphisms in korean patients with urolithiasis.
Korean journal of urology 2011 May 52 (5): 340-4.
Kim Joon-Young, Kim Young-Sun, Chang In-Ho, Jang In-Ho, Jung Jae-Dong, Kim Tae-Hyoung, Kim Hye-Ry
The G allele of CaSR R990G polymorphism increases susceptibility to urolithiasis and hypercalciuria: evidences from a comprehensive meta-analysis.
BioMed research international 2015 2015 958207.
Liu Kang, Wang Xiaolan, Ye Jiaxin, Qin Chao, Shao Pengfei, Zhang Wei, Li Jie, Yin Changj
[A genomic study of adult-onset idiopathic hypoparathyroidism in Chinese by targeted next-generation sequencing].
Zhonghua nei ke za zhi 2016 Aug 55 (8): 604-8.
Li Y P, Wang O, Quan T T, Xia W B, Jiang Y, Li M, Meng X W, Xing X
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.
Annals of pediatric endocrinology & metabolism 2018 7 23 (2): 107-111.
Moon Jung-Eun, Lee Su-Jeong, Park Suk-Hyun, Kim Jinsup, Jin Dong-Kyu, Ko Cheol W
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.
European journal of endocrinology 2018 11 180 (1): 59-70.
García-Castaño Alejandro, Madariaga Leire, Pérez de Nanclares Gustavo, Ariceta Gema, Gaztambide Sonia, Castaño Lu
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.
BMC medical genomics 2021 11 14 (1): 266.
Ullah Ihsan, Ottlewski Isabel, Shehzad Wasim, Riaz Amjad, Ijaz Sadaqat, Tufail Asad, Ammara Hafiza, Mane Shrikant, Shril Shirlee, Hildebrandt Friedhelm, Zahoor Muhammad Yasir, Majmundar Amar
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