HuGE Literature Finder
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| Metabolic and Genetic Evaluation in Children with Nephrolithiasis. Indian journal of pediatrics 2022 Jul . Mandal Anita, Khandelwal Priyanka, Geetha Thenral S, Murugan Sakthivel, Meena Jitendra, Jana Manisha, Sinha Aditi, Kumar Rajeev, Seth Amlesh, Hari Pankaj, Bagga Arvi |
| No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria. BMC nephrology 2018 Oct 19 (1): 278. Olschok Kathrin, Vester Udo, Lahme Sven, Kurth Ingo, Eggermann Thom |
| Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria. Urolithiasis 2015 Oct 43 (5): 447-53. Koulivand Leila, Mohammadi Mehrdad, Ezatpour Behrouz, Salehi Rasoul, Markazi Samane, Dashti Sepideh, Kheirollahi Maj |
| Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. Journal of the American Society of Nephrology : JASN 2015 Mar 26 (3): 543-51. Halbritter Jan, Baum Michelle, Hynes Ann Marie, Rice Sarah J, Thwaites David T, Gucev Zoran S, Fisher Brittany, Spaneas Leslie, Porath Jonathan D, Braun Daniela A, Wassner Ari J, Nelson Caleb P, Tasic Velibor, Sayer John A, Hildebrandt Friedhe |
| Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. Molecular genetics and metabolism 2010 Jan 99 (1): 42-52. Bisceglia Luigi, Fischetti Lucia, Bonis Patrizia De, Palumbo Orazio, Augello Bartolomeo, Stanziale Pietro, Carella Massimo, Zelante Leopol |
| An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients. Molecular genetics and metabolism 2008 Nov 95 (3): 192-3. Chatzikyriakidou Anthoula, Louizou Eirini, Dedousis George V Z, Bisceglia Luigi, Michelakakis Helen, Georgiou Ioann |
| A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. Kidney international 2006 Apr 69 (7): 1198-206. Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, Kim D K, Fujimura M, Anzai N, Mizoguchi K, Ueda T, Akakura K, Ichikawa T, Ito H, Endou |
| New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. Journal of medical genetics 2005 Jan 42 (1): 58-68. Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes |
| The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. Urological research 2004 May 32 (2): 75-8. Schmidt C, Vester U, Hesse A, Lahme S, Lang F, Zerres K, Eggermann T |
| Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls. Clinical nephrology 2003 May 59 (5): 353-9. Schmidt C, Tomiuk J, Botzenhart E, Vester U, Halber M, Hesse A, Wagner C, Lahme S, Lang F, Zerres K, Eggermann T, Bachmann H, Bökenkamp A, Fischbach M, Fründ S, Pistor K G, Zappel H F, |
| Mutation analysis of SLC7A9 in cystinuria patients in Sweden. Genetic testing 2003 7 (1): 13-20. Harnevik Lotta, Fjellstedt Erik, Molbaek Annette, Denneberg Torsten, Söderkvist Pet |
| Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. Journal of the American Society of Nephrology : JASN 2002 Oct 13 (10): 2547-53. Dello Strologo Luca, Pras Elon, Pontesilli Claudia, Beccia Ercole, Ricci-Barbini Vittorino, de Sanctis Luisa, Ponzone Alberto, Gallucci Michele, Bisceglia Luigi, Zelante Leopoldo, Jimenez-Vidal Maite, Font Mariona, Zorzano Antonio, Rousaud Ferran, Nunes Virginia, Gasparini Paolo, Palacín Manuel, Rizzoni Gianfran |
| Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. Human mutation 2001 Dec 18 (6): 516-25. Harnevik L, Fjellstedt E, Molbaek A, Tiselius H G, Denneberg T, Söderkvist |
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- Page last updated:Jan 27, 2023
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