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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Hyperoxaluria and GRHPR[original query]
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
Kidney international 2004 Sep 66 (3): 959-63.
Rumsby Gill, Williams Emma, Coulter-Mackie Mari
Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2008 Dec 52 (6): 1096-103.
Monico Carla G, Weinstein Adam, Jiang Zhirong, Rohlinger Audrey L, Cogal Andrea G, Bjornson Beth B, Olson Julie B, Bergstralh Eric J, Milliner Dawn S, Aronson Peter
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.
The Journal of urology 2009 May 181 (5): 2146-51.
Levin-Iaina Nomy, Dinour Dganit, Romero Lina, Ron Rotem, Brady R Leo, Cramer Scott D, Holtzman Eli
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
Clinical genetics 2014 Oct 86 (4): 342-8.
Takayama T, Takaoka N, Nagata M, Johnin K, Okada Y, Tanaka S, Kawamura M, Inokuchi T, Ohse M, Kuhara T, Tanioka F, Yamada H, Sugimura H, Ozono
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Journal of the American Society of Nephrology : JASN 2015 Feb .
Hopp Katharina, Cogal Andrea G, Bergstralh Eric J, Seide Barbara M, Olson Julie B, Meek Alicia M, Lieske John C, Milliner Dawn S, Harris Peter C,
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones.
World journal of urology 2018 11 37 (8): 1713-1721.
He Lei, Xu Guofeng, Fang Xiaoliang, Lin Houwei, Xu Maosheng, Yu Yongguo, Geng Hongqu
Etiological Profile of Nephrocalcinosis in Children from Southern India.
Indian pediatrics 2020 3 57 (5): 415-419.
Ramya Kagnur, Krishnamurthy Sriram, Sivamurukan Palanisa
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Clinical genetics 2022 10 103 (1): 53-66.
Abid Aiysha, Raza Ali, Khan Abdul Rafay, Firasat Sadaf, Shahid Saba, Hashmi Seema, Zafar Mirza Naqi, Sultan Sajid, Khaliq Shagufta, Rizvi Syed Adib-Ul-Has
Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery.
Scientific reports 2023 6 13 (1): 9029.
Lotte Scherer, Ria Schönauer, Melanie Nemitz-Kliemchen, Tobias Hagemann, Elena Hantmann, Jonathan de Fallois, Friederike Petzold, Matthias Blüher, Jan Halbritt
Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.
Frontiers in molecular biosciences 2023 1 9 1049620.
Chatterjee Arindam, Sarkar Kunal, Bank Sarbashri, Ghosh Sudakshina, Kumar Pal Dilip, Saraf Siddharth, Wakle Dhansagar, Roy Bidyut, Chakraborty Santanu, Bankura Biswabandhu, Chattopadhyay Debprasad, Das Madhusud
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