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Journal Abstract Search

265 related items for PubMed ID: 29949740

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 23(5):1090-8. PubMed ID: 22982934
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. [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
    [Abstract] [Full Text] [Related]

  • 7. Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report.
    Akira M, Suzuki H, Ikeda A, Iwasaki M, Honda D, Takahara H, Rinno H, Tomita S, Suzuki Y.
    BMC Nephrol; 2021 Jul 10; 22(1):261. PubMed ID: 34246230
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 76(1):16-24. PubMed ID: 31402777
    [Abstract] [Full Text] [Related]

  • 9. Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.
    Hoefele J, Nayir A, Chaki M, Imm A, Allen SJ, Otto EA, Hildebrandt F.
    Pediatr Nephrol; 2011 Jun 10; 26(6):967-71. PubMed ID: 21258817
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 12(4):240-242. PubMed ID: 30087219
    [Abstract] [Full Text] [Related]

  • 11. [Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis].
    Sun LZ, Lin HR, Yue ZH, Wang HY, Jiang XY, Tong HJ, Li M, Wang WG, Mou YK, Yang F, Liu T, Chen HM.
    Zhonghua Er Ke Za Zhi; 2016 Nov 02; 54(11):834-839. PubMed ID: 27806791
    [Abstract] [Full Text] [Related]

  • 12. Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding.
    Kang HG, Ahn YH, Kim JH, Ha IS, Yu YS, Park YH, Cheong HI.
    Clin Exp Ophthalmol; 2015 Jul 02; 43(5):437-42. PubMed ID: 25401970
    [Abstract] [Full Text] [Related]

  • 13. 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 02; 62(12):1508-1512. PubMed ID: 36942623
    [Abstract] [Full Text] [Related]

  • 14. 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 02; 75(1):82-91. PubMed ID: 15138899
    [Abstract] [Full Text] [Related]

  • 15. A case report of NPHP1 deletion in Chinese twins with nephronophthisis.
    Chen F, Dai L, Zhang J, Li F, Cheng J, Zhao J, Zhang B.
    BMC Med Genet; 2020 Apr 19; 21(1):84. PubMed ID: 32306954
    [Abstract] [Full Text] [Related]

  • 16. 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 19; 25(10):2193-4. PubMed ID: 20454808
    [No Abstract] [Full Text] [Related]

  • 17. 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 19; 29(6):1772-1779. PubMed ID: 29654215
    [Abstract] [Full Text] [Related]

  • 18. Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.
    Heninger E, Otto E, Imm A, Caridi G, Hildebrandt F.
    Am J Kidney Dis; 2001 Jun 19; 37(6):1131-9. PubMed ID: 11382680
    [Abstract] [Full Text] [Related]

  • 19. A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.
    Liu Y, Qiu T, Chen Z, Ma X, Wang T, Zhang Y, Kong C, Yu B, Guo J, Zhou J.
    Transpl Immunol; 2023 Jun 19; 78():101828. PubMed ID: 36948406
    [Abstract] [Full Text] [Related]

  • 20. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
    Stokman MF, van der Zwaag B, van de Kar NCAJ, van Haelst MM, van Eerde AM, van der Heijden JW, Kroes HY, Ippel E, Schulp AJA, van Gassen KL, van Rooij IALM, Giles RH, Beales PL, Roepman R, Arts HH, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR.
    Pediatr Nephrol; 2018 Oct 19; 33(10):1701-1712. PubMed ID: 29974258
    [Abstract] [Full Text] [Related]

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