BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 11382680)

  • 1. 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]  

  • 2. Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.
    Hildebrandt F; Rensing C; Betz R; Sommer U; Birnbaum S; Imm A; Omran H; Leipoldt M; Otto E;
    Kidney Int; 2001 Feb; 59(2):434-45. PubMed ID: 11168925
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
    Otto EA; Helou J; Allen SJ; O'Toole JF; Wise EL; Ashraf S; Attanasio M; Zhou W; Wolf MT; Hildebrandt F
    Hum Mutat; 2008 Mar; 29(3):418-26. PubMed ID: 18076122
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
    Tory K; Lacoste T; Burglen L; Morinière V; Boddaert N; Macher MA; Llanas B; Nivet H; Bensman A; Niaudet P; Antignac C; Salomon R; Saunier S
    J Am Soc Nephrol; 2007 May; 18(5):1566-75. PubMed ID: 17409309
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 32(2):300-5. PubMed ID: 12244321
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 136(6):828-31. PubMed ID: 10839884
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. 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
    [No Abstract]   [Full Text] [Related]  

  • 12. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 13. QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.
    Jávorszky E; Morinière V; Kerti A; Balogh E; Pikó H; Saunier S; Karcagi V; Antignac C; Tory K
    Clin Chem Lab Med; 2017 May; 55(6):809-816. PubMed ID: 28002029
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.
    Hildebrandt F; Strahm B; Nothwang HG; Gretz N; Schnieders B; Singh-Sawhney I; Kutt R; Vollmer M; Brandis M
    Kidney Int; 1997 Jan; 51(1):261-9. PubMed ID: 8995741
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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
    [No Abstract]   [Full Text] [Related]  

  • 17. [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]  

  • 18. Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
    Hoefele J; Sudbrak R; Reinhardt R; Lehrack S; Hennig S; Imm A; Muerb U; Utsch B; Attanasio M; O'Toole JF; Otto E; Hildebrandt F
    Hum Mutat; 2005 Apr; 25(4):411. PubMed ID: 15776426
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evidence for further genetic heterogeneity in nephronophthisis.
    Omran H; Häffner K; Burth S; Ala-Mello S; Antignac C; Hildebrandt F
    Nephrol Dial Transplant; 2001 Apr; 16(4):755-8. PubMed ID: 11274269
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.