Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 21 (of 21 Records) |
| Query Trace: Primary Hyperoxaluria Type 3[original query] |
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| AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. Journal of the American Society of Nephrology : JASN 2001 Oct 12 (10): 2072-9. Amoroso A, Pirulli D, Florian F, Puzzer D, Boniotto M, Crovella S, Zezlina S, Spanò A, Mazzola G, Savoldi S, Ferrettini C, Berutti S, Petrarulo M, Marangella |
| 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 |
| Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. Clinical chemistry 2007 Jul 53 (7): 1216-21. Williams Emma, Rumsby Gi |
| 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 |
| Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney international 2010 Mar 77 (5): 443-9. Harambat Jérôme, Fargue Sonia, Acquaviva Cécile, Gagnadoux Marie-France, Janssen Françoise, Liutkus Aurélia, Mourani Chebl, Macher Marie-Alice, Abramowicz Daniel, Legendre Christophe, Durrbach Antoine, Tsimaratos Michel, Nivet Hubert, Girardin Eric, Schott Anne-Marie, Rolland Marie-Odile, Cochat Pier |
| Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clinical journal of the American Society of Nephrology : CJASN 2011 Sep 6 (9): 2289-95. Monico Carla G, Rossetti Sandro, Belostotsky Ruth, Cogal Andrea G, Herges Regina M, Seide Barbara M, Olson Julie B, Bergstrahl Eric J, Williams Hugh J, Haley William E, Frishberg Yaacov, Milliner Dawn |
| 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 |
| Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney international 2014 Dec 86 (6): 1197-204. Mandrile Giorgia, van Woerden Christiaan S, Berchialla Paola, Beck Bodo B, Acquaviva Bourdain Cécile, Hulton Sally-Anne, Rumsby Gill, |
| AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population. Genetic testing and molecular biomarkers 2015 Sep . Boualla Lamiae, Tajir Mariam, Oulahiane Najat, Lyahyai Jaber, Laarabi Fatima Zahra, Chafai Elalaoui Siham, Soulami Kenza, Ait Ouamar Hassan, Sefiani Abdelaz |
| SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype. Biochemical genetics 2015 Apr 53 (1-3): 23-8. Coulter-Mackie Marion |
| Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review. Current medical science 2018 10 38 (5): 749-757. Du Dun-Feng, Li Qian-Qian, Chen Chen, Shi Shu-Mei, Zhao Yuan-Yuan, Jiang Ji-Pin, Wang Dao-Wen, Guo Hui, Zhang Wei-Jie, Chen Zhi-Sh |
| [Inherited kidney stones: A nephrology center experience]. Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie 2019 9 29 (16): 962-973. Kaaroud H, Harzallah A, Sayhi M, Bacha M, Khadhar M, Goucha R, Bouzid K, Ayed H, Bouzouita A, Cherif M, Chebil M, Mrad R, Omezzine A, Jallouli M, Gargah T, Ben Hamida F, Ben Abdallah |
| Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations. Urolithiasis 2020 6 49 (1): 17-25. Zhao Fangzhou, Li Jun, Tang Lei, Li Chunming, Wang Wenying, Ning Ch |
| Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease. The Journal of urology 2020 12 205 (5): 1394-1399. Bar Roi, Ben-Shalom Efrat, Duvdevani Mordechai, Belostotsky Ruth, Pollak Martin R, Mount David B, Bar-Gal Ruth, Gnessin Ehud, Tzur Shay, Curhan Gary C, Frishberg Yaac |
| Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1. BMC medical genomics 2021 6 14 (1): 146. Murad Hossam, Alhalabi Mohamad Baseel, Dabboul Amir, Alfakseh Nour, Nweder Mohamad Sayah, Zghib Youssef, Wannous Ha |
| Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants. Molecular biology reports 2021 5 48 (4): 3841-3844. Abid Aiys |
| Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis. Cureus 2022 5 14 (3): e23616. Fatima Abdouss, Mohamed Ahakoud, Moustapha Hida, Karim Ould |
| HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships. World journal of urology 2023 6 . Yucheng Ge, Yukun Liu, Ruichao Zhan, Zhenqiang Zhao, Jun Li, Wenying Wang, Ye Ti |
| Kidney cysts in patients with HOGA1 variants. Clinical nephrology 2023 3 . Patel Dipal M, Page Nicolas, Dahl Neera |
| Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium. Kidney international reports 2023 10 8 (10): 2029-2042. Elisabeth L Metry, Sander F Garrelfs, Lisa J Deesker, Cecile Acquaviva, Viola D'Ambrosio, Justine Bacchetta, Bodo B Beck, Pierre Cochat, Laure Collard, Julien Hogan, Pietro Manuel Ferraro, Casper F M Franssen, Jérôme Harambat, Sally-Anne Hulton, Graham W Lipkin, Giorgia Mandrile, Cristina Martin-Higueras, Nilufar Mohebbi, Shabbir H Moochhala, Thomas J Neuhaus, Larisa Prikhodina, Eduardo Salido, Rezan Topaloglu, Michiel J S Oosterveld, Jaap W Groothoff, Hessel Peters-Senge |
| Insights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants. FEBS letters 2024 1 . Pavla Vankova, Juan Luis Pacheco-Garcia, Dmitry S Loginov, Atanasio Gómez-Mulas, Alan Kádek, José Manuel Martín-Garcia, Eduardo Salido, Petr Man, Angel L P |
- Page last reviewed:Feb 1, 2024
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