Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: Cystinuria and SLC3A1[original query] |
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[Sensitivity, specificity and predictive value of the genetic analysis of SLC3A1 gene variants used for the diagnosis of cystinuria among the spanish population]. Revista clínica española 2001 May 201 (5): 256-9. Guillén M, Corella D, Cabello ML, Saiz C, Hernández-Yago J |
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 |
[Phenotypical manifestations of cystinuria: a study of 20 families in the Community of Valencia]. Medicina clinica 2001 1 115 (16): 610-6. Guillén M, Corella D, Luisa Cabello M, González J I, Hernández Yago |
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 |
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 |
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 |
Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes. Clinical genetics 2005 Mar 67 (3): 240-51. Guillén M, Corella D, Cabello M L, González J I, Sabater A, Chaves J F, Hernández-Yago |
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 |
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 |
Search for mutations in SLC1A5 (19q13) in cystinuria patients. Journal of inherited metabolic disease 2006 1 28 (6): 1169-71. Brauers E, Vester U, Zerres K, Eggermann |
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 |
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 |
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 |
Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences 2017 22 33. Markazi Samaneh, Kheirollahi Majid, Doosti Abbas, Mohammadi Mehrd |
In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria. Molecular biology reports 2018 8 45 (5): 1165-1173. Mahdavi Manijeh, Koulivand Leila, Khorrami Mehdi, Mirsafaie Maryam, Kheirollahi Maj |
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 |
Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9. Frontiers in genetics 2020 3 11 74. Li Chuangye, Yang Yongjia, Zheng Yu, Shen Fang, Liu Li, Li Yanfang, Li Liping, Zhao Yaowa |
Non-contrast computed tomography characteristics in a large cohort of cystinuria patients. World journal of urology 2020 11 39 (7): 2753-2757. Warren Hannah, Poon Daniel, Srinivasan Rohit, Thomas Kerushan, Rottenberg Giles, Bultitude Matthew, Thomas K |
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability. American journal of medical genetics. Part C, Seminars in medical genetics 2022 8 190 (3): 279-288. Schönauer Ria, Scherer Lotte, Nemitz-Kliemchen Melanie, Hagemann Tobias, Hantmann Elena, Seidel Anna, Müller Luise, Kehr Stephanie, Voigt Cornelia, Stolzenburg Jens-Uwe, Halbritter J |
Genetic and clinical analysis of Chinese pediatric patients with cystinuria. Urolithiasis 2022 12 51 (1): 20. Zhan Ruichao, Ge Yucheng, Liu Yukun, Zhao Zhenqiang, Wang Wenyi |
Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs. Animal genetics 2023 3 . Fitzwilliams Therese, Wolff-Sneedorff Julie L, Fredholm Merete, Karlskov-Mortensen Peter, Guldbrandtsen Bernt, Bruun Camilla |
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study. International journal of molecular sciences 2023 12 24 (24): . Clara Mayayo-Vallverdú, Esther Prat, Marta Vecino-Pérez, Laura González, Silvia Gràcia-Garcia, Luz San Miguel, Noelia Lopera, Angela Arias, Rafael Artuch, Miguel López de Heredia, Carlos Torrecilla, Ferran Rousaud-Barón, Oriol Angerri, Ekaitz Errasti-Murugarren, Virginia Nun |
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience. Biomedicines 2023 10 11 (10): . Jae Yong Jeong, Kyung Jin Oh, Jun Seok Sohn, Dae Young Jun, Jae Il Shin, Keum Hwa Lee, Joo Yong L |
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- Page last updated:Apr 16, 2024
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