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Journal Abstract Search

174 related items for PubMed ID: 16782989

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  • 3. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.
    Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M.
    Nat Genet; 1997 Oct; 17(2):149-53. PubMed ID: 9326933
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  • 4. 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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  • 6. A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints.
    Otto E, Betz R, Rensing C, Schätzle S, Kuntzen T, Vetsi T, Imm A, Hildebrandt F.
    Hum Mutat; 2000 Sep; 16(3):211-23. PubMed ID: 10980528
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  • 7. Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy.
    Larsen CP, Bonsib SM, Beggs ML, Wilson JD.
    Hum Pathol; 2018 Nov; 81():71-77. PubMed ID: 29949740
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  • 8. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
    König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M, Gesellschaft für Pädiatrische Nephrologie (GPN).
    Clin J Am Soc Nephrol; 2017 Dec 07; 12(12):1974-1983. PubMed ID: 29146700
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  • 10. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.
    Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F.
    J Pediatr; 2000 Jun 07; 136(6):828-31. PubMed ID: 10839884
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  • 12. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
    Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S.
    Nat Genet; 2002 Oct 07; 32(2):300-5. PubMed ID: 12244321
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  • 13. 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 07; 29(6):1772-1779. PubMed ID: 29654215
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  • 14. Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.
    Soliman NA, Hildebrandt F, Otto EA, Nabhan MM, Allen SJ, Badr AM, Sheba M, Fadda S, Gawdat G, El-Kiky H.
    Saudi J Kidney Dis Transpl; 2012 Sep 07; 23(5):1090-8. PubMed ID: 22982934
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  • 18. 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 07; 185(3):589-595. PubMed ID: 26037636
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  • 19. [Identification of a new mutation of the NPHP1 gene].
    La Russa A, Cifarelli RA, Perri A, Saracino A, Santarsia G, Bonofiglio R.
    G Ital Nefrol; 2018 May 07; 35(3):. PubMed ID: 29786190
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  • 20. Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient.
    Soliman NA, Hildebrandt F, Allen SJ, Otto EA, Nabhan MM, Badr AM.
    Pediatr Nephrol; 2010 Oct 07; 25(10):2193-4. PubMed ID: 20454808
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