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 *

189 related articles for article (PubMed ID: 11920287)

  • 1. Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.
    Schuermann MJ; Otto E; Becker A; Saar K; Rüschendorf F; Polak BC; Ala-Mello S; Hoefele J; Wiedensohler A; Haller M; Omran H; Nürnberg P; Hildebrandt F
    Am J Hum Genet; 2002 May; 70(5):1240-6. PubMed ID: 11920287
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.
    Hildebrandt F; Singh-Sawhney I; Schnieders B; Centofante L; Omran H; Pohlmann A; Schmaltz C; Wedekind H; Schubotz C; Antignac C
    Am J Hum Genet; 1993 Dec; 53(6):1256-61. PubMed ID: 8250041
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.
    Omran H; Sasmaz G; Häffner K; Volz A; Olbrich H; Melkaoui R; Otto E; Wienker TF; Korinthenberg R; Brandis M; Antignac C; Hildebrandt F
    J Am Soc Nephrol; 2002 Jan; 13(1):75-79. PubMed ID: 11752023
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evidence for a novel autosomal dominant retinitis pigmentosa linked to chromosome 1p22.1-q12 in a Chinese family.
    Yuan Y; Zhou X; Wang F; Yan M; Ding F
    Curr Eye Res; 2011 Feb; 36(2):154-67. PubMed ID: 21281067
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.
    Bardien S; Ebenezer N; Greenberg J; Inglehearn CF; Bartmann L; Goliath R; Beighton P; Ramesar R; Bhattacharya SS
    Hum Mol Genet; 1995 Aug; 4(8):1459-62. PubMed ID: 7581389
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Retinitis pigmentosa and renal failure in a patient with mutations in INVS.
    O'Toole JF; Otto EA; Frishberg Y; Hildebrandt F
    Nephrol Dial Transplant; 2006 Jul; 21(7):1989-91. PubMed ID: 16522655
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
    Finckh U; Xu S; Kumaramanickavel G; Schürmann M; Mukkadan JK; Fernandez ST; John S; Weber JL; Denton MJ; Gal A
    Genomics; 1998 Mar; 48(3):341-5. PubMed ID: 9545639
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.
    Omran H; Fernandez C; Jung M; Häffner K; Fargier B; Villaquiran A; Waldherr R; Gretz N; Brandis M; Rüschendorf F; Reis A; Hildebrandt F
    Am J Hum Genet; 2000 Jan; 66(1):118-27. PubMed ID: 10631142
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan.
    Leutelt J; Oehlmann R; Younus F; van den Born LI; Weber JL; Denton MJ; Mehdi SQ; Gal A
    Clin Genet; 1995 Mar; 47(3):122-4. PubMed ID: 7634534
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.
    Christodoulou K; Tsingis M; Deymeer F; Serdaroglu P; Ozdemir C; Al-Shehab A; Bairactaris C; Mavromatis I; Mylonas I; Evoli A; Kyriallis K; Middleton LT
    Hum Mol Genet; 1997 Apr; 6(4):635-40. PubMed ID: 9097970
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
    Ullah I; Kabir F; Iqbal M; Gottsch CB; Naeem MA; Assir MZ; Khan SN; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2016; 22():797-815. PubMed ID: 27440997
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.
    Wang L; Lin H; Shen Y; Huang S; Gu J; Su H; Qi Y
    Mol Vis; 2007 Aug; 13():1357-62. PubMed ID: 17768382
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1.
    Xu SY; Schwartz M; Rosenberg T; Gal A
    Hum Mol Genet; 1996 Aug; 5(8):1193-7. PubMed ID: 8842740
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
    Hardcastle AJ; Thiselton DL; Zito I; Ebenezer N; Mah TS; Gorin MB; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2000 Jul; 41(8):2080-6. PubMed ID: 10892847
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32.
    Higgins JJ; Morton DH; Loveless JM
    Neurology; 1999 Jan; 52(1):146-50. PubMed ID: 9921862
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
    Neufeld EJ; Mandel H; Raz T; Szargel R; Yandava CN; Stagg A; Fauré S; Barrett T; Buist N; Cohen N
    Am J Hum Genet; 1997 Dec; 61(6):1335-41. PubMed ID: 9399900
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.
    Naz S; Riazuddin SA; Li L; Shahid M; Kousar S; Sieving PA; Hejtmancik JF; Riazuddin S
    Am J Ophthalmol; 2010 May; 149(5):861-6. PubMed ID: 20227676
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.