BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

337 related articles for article (PubMed ID: 21866095)

  • 1. Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
    Chaki M; Hoefele J; Allen SJ; Ramaswami G; Janssen S; Bergmann C; Heckenlively JR; Otto EA; Hildebrandt F
    Kidney Int; 2011 Dec; 80(11):1239-45. PubMed ID: 21866095
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
    Li J; Su X; Zhang H; Wu W; Li J; Chen Y; Li J; Fu Q; Wu C; Zhong X; Wang C; Liu L
    Pediatr Nephrol; 2023 May; 38(5):1609-1620. PubMed ID: 36227438
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
    Tang X; Liu C; Liu X; Chen J; Fan X; Liu J; Ma D; Cao G; Chen Z; Xu D; Zhu Y; Jiang X; Cheng L; Wu Y; Hou L; Li Y; Shao X; Zheng S; Zhang A; Zheng B; Jian S; Rong Z; Su Q; Gao X; Rao J; Shen Q; Xu H; ;
    J Med Genet; 2022 Feb; 59(2):147-154. PubMed ID: 33323469
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. [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]  

  • 9. [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]  

  • 10. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
    Olbrich H; Fliegauf M; Hoefele J; Kispert A; Otto E; Volz A; Wolf MT; Sasmaz G; Trauer U; Reinhardt R; Sudbrak R; Antignac C; Gretz N; Walz G; Schermer B; Benzing T; Hildebrandt F; Omran H
    Nat Genet; 2003 Aug; 34(4):455-9. PubMed ID: 12872122
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family.
    Wang Y; Chen F; Wang J; Zhao Y; Liu F
    BMC Nephrol; 2019 May; 20(1):173. PubMed ID: 31096956
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
    Kang HG; Lee HK; Ahn YH; Joung JG; Nam J; Kim NK; Ko JM; Cho MH; Shin JI; Kim J; Park HW; Park YS; Ha IS; Chung WY; Lee DY; Kim SY; Park WY; Cheong HI
    Exp Mol Med; 2016 Aug; 48(8):e251. PubMed ID: 27491411
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Nephronophthisis and related syndromes.
    Wolf MT
    Curr Opin Pediatr; 2015 Apr; 27(2):201-11. PubMed ID: 25635582
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
    Halbritter J; Porath JD; Diaz KA; Braun DA; Kohl S; Chaki M; Allen SJ; Soliman NA; Hildebrandt F; Otto EA;
    Hum Genet; 2013 Aug; 132(8):865-84. PubMed ID: 23559409
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
    Otto EA; Ramaswami G; Janssen S; Chaki M; Allen SJ; Zhou W; Airik R; Hurd TW; Ghosh AK; Wolf MT; Hoppe B; Neuhaus TJ; Bockenhauer D; Milford DV; Soliman NA; Antignac C; Saunier S; Johnson CA; Hildebrandt F;
    J Med Genet; 2011 Feb; 48(2):105-16. PubMed ID: 21068128
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 21(1):84. PubMed ID: 32306954
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
    Otto EA; Tory K; Attanasio M; Zhou W; Chaki M; Paruchuri Y; Wise EL; Wolf MT; Utsch B; Becker C; Nürnberg G; Nürnberg P; Nayir A; Saunier S; Antignac C; Hildebrandt F
    J Med Genet; 2009 Oct; 46(10):663-70. PubMed ID: 19508969
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
    Otto E; Hoefele J; Ruf R; Mueller AM; Hiller KS; Wolf MT; Schuermann MJ; Becker A; Birkenhäger R; Sudbrak R; Hennies HC; Nürnberg P; Hildebrandt F
    Am J Hum Genet; 2002 Nov; 71(5):1161-7. PubMed ID: 12205563
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Evidence of oligogenic inheritance in nephronophthisis.
    Hoefele J; Wolf MT; O'Toole JF; Otto EA; Schultheiss U; Dêschenes G; Attanasio M; Utsch B; Antignac C; Hildebrandt F
    J Am Soc Nephrol; 2007 Oct; 18(10):2789-95. PubMed ID: 17855640
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.