These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 10712196)

  • 1. Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.
    Saunier S; Calado J; Benessy F; Silbermann F; Heilig R; Weissenbach J; Antignac C
    Am J Hum Genet; 2000 Mar; 66(3):778-89. PubMed ID: 10712196
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.
    Konrad M; Saunier S; Heidet L; Silbermann F; Benessy F; Calado J; Le Paslier D; Broyer M; Gubler MC; Antignac C
    Hum Mol Genet; 1996 Mar; 5(3):367-71. PubMed ID: 8852662
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
    Yuan B; Liu P; Gupta A; Beck CR; Tejomurtula A; Campbell IM; Gambin T; Simmons AD; Withers MA; Harris RA; Rogers J; Schwartz DC; Lupski JR
    PLoS Genet; 2015 Dec; 11(12):e1005686. PubMed ID: 26641089
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.
    Small K; Iber J; Warren ST
    Nat Genet; 1997 May; 16(1):96-9. PubMed ID: 9140403
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13.
    Nothwang HG; Stubanus M; Adolphs J; Hanusch H; Vossmerbäumer U; Denich D; Kübler M; Mincheva A; Lichter P; Hildebrandt F
    Genomics; 1998 Jan; 47(2):276-85. PubMed ID: 9479500
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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;
    Clin J Am Soc Nephrol; 2017 Dec; 12(12):1974-1983. PubMed ID: 29146700
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 37(6):1131-9. PubMed ID: 11382680
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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; 35(3):. PubMed ID: 29786190
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.
    Kiyosawa H; Chance PF
    Hum Mol Genet; 1996 Jun; 5(6):745-53. PubMed ID: 8776588
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
    Kurotaki N; Stankiewicz P; Wakui K; Niikawa N; Lupski JR
    Hum Mol Genet; 2005 Feb; 14(4):535-42. PubMed ID: 15640245
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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; 54(11):834-839. PubMed ID: 27806791
    [No Abstract]   [Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two rare copy number variants involving loss of
    Liu CH; Li LJ; Tian M; Cao GH; Zhang SF; Li JT
    Niger J Clin Pract; 2023 Apr; 26(4):524-527. PubMed ID: 37203120
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.