Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Disease and SLC3A1[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes. Frontiers in genetics 2022 8 13 886038. Alaamery Manal, Alghamdi Jahad, Massadeh Salam, Alsawaji Mona, Aljawini Nora, Albesher Nour, Alghamdi Bader, Almutairi Mansour, Hejaili Fayez, Alfadhel Majid, Baz Batoul, Almuzzaini Bader, Almutairi Adel F, Abdullah Mubarak, Quintana Francisco J, Sayyari Abdull |
| Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects. European journal of medical genetics 2022 1 65 (2): 104426. Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny |
| Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain. Urolithiasis 2023 8 51 (1): 101. Chen-Han Wilfred Wu, Jad Badreddine, Joshua Chang, Yu-Ren Mike Huang, Fernando J Kim, Trevor Wild, Anne Chun-Hui Tsai, Naomi Meeks, Rodrigo Donalisio Da Silva, Wilson R Molina, Fredrick R Schumach |
| 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 |
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