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Journal Abstract Search

127 related items for PubMed ID: 20454808

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  • 6. Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.
    Abdelwahed M, Maaloul I, Benoit V, Hilbert P, Hachicha M, Kamoun H, Keskes-Ammar L, Belguith N.
    Acta Clin Belg; 2021 Feb; 76(1):16-24. PubMed ID: 31402777
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  • 7. Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.
    Gheissari A, Harandavar M, Hildebrandt F, Braun DA, Sedghi M, Parsi N, Merrikhi A, Madihi Y, Aghamohammadi F.
    Iran J Kidney Dis; 2015 Mar; 9(2):119-25. PubMed ID: 25851290
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  • 9. Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.
    Tong H, Zhao F, Yang Y, Qiu X, Zhu L, Yu Z.
    Clin Pediatr (Phila); 2023 Dec; 62(12):1508-1512. PubMed ID: 36942623
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  • 10. Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China
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    Tang X, Xu H, Shen Q, Li G, Rao J, Chen J, Zhai Y, Miao Q.
    Clin Nephrol; 2019 Aug; 92(2):89-94. PubMed ID: 31131822
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  • 12. NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
    Snoek R, van Setten J, Keating BJ, Israni AK, Jacobson PA, Oetting WS, Matas AJ, Mannon RB, Zhang Z, Zhang W, Hao K, Murphy B, Reindl-Schwaighofer R, Heinzl A, Oberbauer R, Viklicky O, Conlon PJ, Stapleton CP, Bakker SJL, Snieder H, Peters EDJ, van der Zwaag B, Knoers NVAM, de Borst MH, van Eerde AM.
    J Am Soc Nephrol; 2018 Jun; 29(6):1772-1779. PubMed ID: 29654215
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  • 16. Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.
    Bollée G, Fakhouri F, Karras A, Noël LH, Salomon R, Servais A, Lesavre P, Morinière V, Antignac C, Hummel A.
    Nephrol Dial Transplant; 2006 Sep; 21(9):2660-3. PubMed ID: 16782989
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  • 18. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
    Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA.
    Am J Hum Genet; 2004 Jul; 75(1):82-91. PubMed ID: 15138899
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  • 19. Identification of an NPHP1 deletion causing adult form of nephronophthisis.
    Haghighi A, Savaj S, Haghighi-Kakhki H, Benoit V, Grisart B, Dahan K.
    Ir J Med Sci; 2016 Aug; 185(3):589-595. PubMed ID: 26037636
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  • 20. Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families.
    Hussain S, Akhtar N, Qamar R, Khan N, Naeem M.
    Iran J Kidney Dis; 2018 Jul; 12(4):240-242. PubMed ID: 30087219
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