BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

237 related articles for article (PubMed ID: 16085960)

  • 1. [Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].
    Szczałuba K; Obersztyn E; Kozłowski K; Ravazzolo R; Gołabek B; Mazurczak T
    Med Wieku Rozwoj; 2005; 9(2):195-203. PubMed ID: 16085960
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [The nail-patella syndrome: rare genetically determined cause of proteinuria].
    Zarzecki M; Nieszporek T; Chudek J; Wiecek A
    Pol Arch Med Wewn; 2006 Dec; 116(6):1192-9. PubMed ID: 18634531
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional characterization of LMX1B mutations associated with nail-patella syndrome.
    Sato U; Kitanaka S; Sekine T; Takahashi S; Ashida A; Igarashi T
    Pediatr Res; 2005 Jun; 57(6):783-8. PubMed ID: 15774843
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Nail-patella syndrome. Overview on clinical and molecular findings.
    Bongers EM; Gubler MC; Knoers NV
    Pediatr Nephrol; 2002 Sep; 17(9):703-12. PubMed ID: 12215822
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.
    Seri M; Melchionda S; Dreyer S; Marini M; Carella M; Cusano R; Piemontese MR; Caroli F; Silengo M; Zelante L; Romeo G; Ravazzolo R; Gasparini P; Lee B
    Int J Mol Med; 1999 Sep; 4(3):285-90. PubMed ID: 10425280
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
    Vollrath D; Jaramillo-Babb VL; Clough MV; McIntosh I; Scott KM; Lichter PR; Richards JE
    Hum Mol Genet; 1998 Jul; 7(7):1091-8. PubMed ID: 9618165
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.
    Ham JH; Shin SJ; Joo KR; Park SM; Sung HY; Kim JS; Choi JS; Choi YJ; Song HC; Choi EJ
    Korean J Intern Med; 2009 Sep; 24(3):274-8. PubMed ID: 19721866
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
    Clough MV; Hamlington JD; McIntosh I
    Hum Mutat; 1999; 14(6):459-65. PubMed ID: 10571942
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [From gene to disease; the nail-patella syndrome and the LMX1B gene].
    Bongers EM; Knoers NV
    Ned Tijdschr Geneeskd; 2003 Jan; 147(2):67-9. PubMed ID: 12602071
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
    Harita Y; Kitanaka S; Isojima T; Ashida A; Hattori M
    Pediatr Nephrol; 2017 Oct; 32(10):1845-1850. PubMed ID: 27450397
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.
    Millá E; Hernan I; Gamundi MJ; Martínez-Gimeno M; Carballo M
    Mol Vis; 2007 Apr; 13():639-48. PubMed ID: 17515884
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
    Ghoumid J; Petit F; Holder-Espinasse M; Jourdain AS; Guerra J; Dieux-Coeslier A; Figeac M; Porchet N; Manouvrier-Hanu S; Escande F
    Eur J Hum Genet; 2016 Jan; 24(1):44-50. PubMed ID: 25898926
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
    Nakata T; Ishida R; Mihara Y; Fujii A; Inoue Y; Kusaba T; Isojima T; Harita Y; Kanda C; Kitanaka S; Tamagaki K
    BMC Nephrol; 2017 Mar; 18(1):100. PubMed ID: 28335748
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
    Bongers EM; de Wijs IJ; Marcelis C; Hoefsloot LH; Knoers NV
    Eur J Hum Genet; 2008 Oct; 16(10):1240-4. PubMed ID: 18414507
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.
    Mukai M; Fujita H; Umegaki-Arao N; Sasaki T; Yasuda-Sekiguchi F; Isojima T; Kitanaka S; Amagai M; Kubo A
    J Dermatol Sci; 2018 Apr; 90(1):90-93. PubMed ID: 29290531
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation analysis of LMX1B gene in nail-patella syndrome patients.
    McIntosh I; Dreyer SD; Clough MV; Dunston JA; Eyaid W; Roig CM; Montgomery T; Ala-Mello S; Kaitila I; Winterpacht A; Zabel B; Frydman M; Cole WG; Francomano CA; Lee B
    Am J Hum Genet; 1998 Dec; 63(6):1651-8. PubMed ID: 9837817
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
    Marini M; Bocciardi R; Gimelli S; Di Duca M; Divizia MT; Baban A; Gaspar H; Mammi I; Garavelli L; Cerone R; Emma F; Bedeschi MF; Tenconi R; Sensi A; Salmaggi A; Bengala M; Mari F; Colussi G; Szczaluba K; Antonarakis SE; Seri M; Lerone M; Ravazzolo R
    Genet Med; 2010 Jul; 12(7):431-9. PubMed ID: 20531206
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome.
    Kraus J; Jahngir MU; Singh B; Qureshi AI
    Vasc Endovascular Surg; 2020 Feb; 54(2):175-181. PubMed ID: 31746280
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.
    Marini M; Bongers EM; Cusano R; Di Duca M; Seri M; Knoers NV; Ravazzolo R
    Int J Mol Med; 2003 Jul; 12(1):79-82. PubMed ID: 12792813
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nail patella syndrome: a review of the phenotype aided by developmental biology.
    Sweeney E; Fryer A; Mountford R; Green A; McIntosh I
    J Med Genet; 2003 Mar; 40(3):153-62. PubMed ID: 12624132
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.