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 *

138 related articles for article (PubMed ID: 15996164)

  • 21. 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]  

  • 22. 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]  

  • 23. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.
    Chen H; Lun Y; Ovchinnikov D; Kokubo H; Oberg KC; Pepicelli CV; Gan L; Lee B; Johnson RL
    Nat Genet; 1998 May; 19(1):51-5. PubMed ID: 9590288
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Nail-patella syndrome and renal involvement. Description of three cases and literature review.
    Granata A; Nori G; Ravazzolo R; Marini M; Castellino S; Sicurezza E; Fiore CE; Mignani R
    Clin Nephrol; 2008 May; 69(5):377-82. PubMed ID: 18538102
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Linkage analysis of the nail-patella syndrome.
    Campeau E; Watkins D; Rouleau GA; Babul R; Buchanan JA; Meschino W; Der Kaloustian VM
    Am J Hum Genet; 1995 Jan; 56(1):243-7. PubMed ID: 7825584
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Case Report: Inversion of
    Lindelöf H; Horemuzova E; Voss U; Nordgren A; Grigelioniene G; Hammarsjö A
    Front Endocrinol (Lausanne); 2022; 13():862908. PubMed ID: 35769074
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.
    Hamlington JD; Clough MV; Dunston JA; McIntosh I
    Eur J Hum Genet; 2000 Apr; 8(4):311-4. PubMed ID: 10854116
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
    Dreyer SD; Zhou G; Baldini A; Winterpacht A; Zabel B; Cole W; Johnson RL; Lee B
    Nat Genet; 1998 May; 19(1):47-50. PubMed ID: 9590287
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Onycho-osteo-dysplasia (in connection with two familial observations) (author's transl)].
    Rotteleur G; Duez-Desmaret C; Farriaux JP; Fontaine G
    J Genet Hum; 1978 Dec; 26(4):393-404. PubMed ID: 752069
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Autosomal linkage in man: the nail-patella syndrome.
    Duthie RB
    Clin Orthop Relat Res; 1964; 33():129-37. PubMed ID: 5889017
    [No Abstract]   [Full Text] [Related]  

  • 34. [Nail-patella syndrome. A case report and review of the literature].
    Wagner J
    Rontgenblatter; 1989 Oct; 42(10):441-6. PubMed ID: 2682987
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome.
    Dunston JA; Lin S; Park JW; Malbroux M; McIntosh I
    Ann Hum Genet; 2005 Jan; 69(Pt 1):1-8. PubMed ID: 15638822
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
    Dunston JA; Reimschisel T; Ding YQ; Sweeney E; Johnson RL; Chen ZF; McIntosh I
    Eur J Hum Genet; 2005 Mar; 13(3):330-5. PubMed ID: 15562281
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
    Hamlington JD; Jones C; McIntosh I
    Hum Mutat; 2001 Nov; 18(5):458. PubMed ID: 11668639
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Nephropathy in hereditary osteo-onycho dysplasia (HOOD): variable expression or genetic heterogeneity?
    Lommen EJ; Hamel BC; te Slaa RL
    Prog Clin Biol Res; 1989; 305():157-60. PubMed ID: 2762348
    [No Abstract]   [Full Text] [Related]  

  • 39. A kindred of koilonychia: linkage data.
    Schleutermann DA; Bias WB; McKusick VA
    Am J Hum Genet; 1970 Jul; 22(4):390-5. PubMed ID: 5432288
    [No Abstract]   [Full Text] [Related]  

  • 40. A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.
    Lin Y; Zhao J; Chen S; Zeng X; Du Q; Yang Y; Lu F; Pu Y; Yang Z
    Bone; 2008 Sep; 43(3):591-5. PubMed ID: 18595794
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.