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 *

197 related articles for article (PubMed ID: 15503005)

  • 1. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.
    Lachman RS; Krakow D; Cohn DH; Rimoin DL
    Pediatr Radiol; 2005 Feb; 35(2):116-23. PubMed ID: 15503005
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
    Czarny-Ratajczak M; Lohiniva J; Rogala P; Kozlowski K; Perälä M; Carter L; Spector TD; Kolodziej L; Seppänen U; Glazar R; Królewski J; Latos-Bielenska A; Ala-Kokko L
    Am J Hum Genet; 2001 Nov; 69(5):969-80. PubMed ID: 11565064
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
    Kim OH; Park H; Seong MW; Cho TJ; Nishimura G; Superti-Furga A; Unger S; Ikegawa S; Choi IH; Song HR; Kim HW; Yoo WJ; Shim JS; Chung CY; Oh CW; Jeong C; Song KS; Seo SG; Cho SI; Yeo IK; Kim SY; Park S; Park SS
    Am J Med Genet A; 2011 Nov; 155A(11):2669-80. PubMed ID: 21965141
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
    Vatanavicharn N; Lachman RS; Rimoin DL
    Am J Med Genet A; 2008 Jul; 146A(13):1682-6. PubMed ID: 18546327
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
    Jakkula E; Mäkitie O; Czarny-Ratajczak M; Jackson GC; Damignani R; Susic M; Briggs MD; Cole WG; Ala-Kokko L
    Eur J Hum Genet; 2005 Mar; 13(3):292-301. PubMed ID: 15523498
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
    Mortier GR; Chapman K; Leroy JL; Briggs MD
    Eur J Hum Genet; 2001 Aug; 9(8):606-12. PubMed ID: 11528506
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
    Ballo R; Briggs MD; Cohn DH; Knowlton RG; Beighton PH; Ramesar RS
    Am J Med Genet; 1997 Feb; 68(4):396-400. PubMed ID: 9021009
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects.
    Kawaji H; Nishimura G; Watanabe S; Mabuchi A; Ikeda T; Ohashi H; Sasaki A; Sano T; Ikegawa S
    Skeletal Radiol; 2002 Dec; 31(12):730-7. PubMed ID: 12483437
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
    Unger S; Hecht JT
    Am J Med Genet; 2001; 106(4):244-50. PubMed ID: 11891674
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
    Unger S; Bonafé L; Superti-Furga A
    Best Pract Res Clin Rheumatol; 2008 Mar; 22(1):19-32. PubMed ID: 18328978
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.
    Itoh T; Shirahama S; Nakashima E; Maeda K; Haga N; Kitoh H; Kosaki R; Ohashi H; Nishimura G; Ikegawa S
    Am J Med Genet A; 2006 Jun; 140(12):1280-4. PubMed ID: 16691584
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.
    Chapman KL; Briggs MD; Mortier GR
    Pediatr Pathol Mol Med; 2003; 22(1):53-75. PubMed ID: 12687890
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
    Jackson GC; Mittaz-Crettol L; Taylor JA; Mortier GR; Spranger J; Zabel B; Le Merrer M; Cormier-Daire V; Hall CM; Offiah A; Wright MJ; Savarirayan R; Nishimura G; Ramsden SC; Elles R; Bonafe L; Superti-Furga A; Unger S; Zankl A; Briggs MD
    Hum Mutat; 2012 Jan; 33(1):144-57. PubMed ID: 21922596
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
    Chapman KL; Mortier GR; Chapman K; Loughlin J; Grant ME; Briggs MD
    Nat Genet; 2001 Aug; 28(4):393-6. PubMed ID: 11479597
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Mabuchi A; Manabe N; Haga N; Kitoh H; Ikeda T; Kawaji H; Tamai K; Hamada J; Nakamura S; Brunetti-Pierri N; Kimizuka M; Takatori Y; Nakamura K; Nishimura G; Ohashi H; Ikegawa S
    Hum Genet; 2003 Jan; 112(1):84-90. PubMed ID: 12483304
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
    Jakkula E; Lohiniva J; Capone A; Bonafe L; Marti M; Schuster V; Giedion A; Eich G; Boltshauser E; Ala-Kokko L; Superti-Furga A
    J Med Genet; 2003 Dec; 40(12):942-8. PubMed ID: 14684695
    [No Abstract]   [Full Text] [Related]  

  • 17. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
    Briggs MD; Chapman KL
    Hum Mutat; 2002 May; 19(5):465-78. PubMed ID: 11968079
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia].
    Wang JJ; Guo YB
    Yi Chuan; 2008 May; 30(5):537-42. PubMed ID: 18487141
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.
    Thur J; Rosenberg K; Nitsche DP; Pihlajamaa T; Ala-Kokko L; Heinegård D; Paulsson M; Maurer P
    J Biol Chem; 2001 Mar; 276(9):6083-92. PubMed ID: 11084047
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
    Zankl A; Jackson GC; Crettol LM; Taylor J; Elles R; Mortier GR; Spranger J; Zabel B; Unger S; Merrer ML; Cormier-Daire V; Hall CM; Wright MJ; Bonafe L; Superti-Furga A; Briggs MD
    Eur J Hum Genet; 2007 Feb; 15(2):150-4. PubMed ID: 17133256
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.