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 *

180 related articles for article (PubMed ID: 7907311)

  • 1. A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.
    Rimoin DL; Rasmussen IM; Briggs MD; Roughley PJ; Gruber HE; Warman ML; Olsen BR; Hsia YE; Yuen J; Reinker K
    Hum Genet; 1994 Mar; 93(3):236-42. PubMed ID: 7907311
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
    Briggs MD; Hoffman SM; King LM; Olsen AS; Mohrenweiser H; Leroy JG; Mortier GR; Rimoin DL; Lachman RS; Gaines ES
    Nat Genet; 1995 Jul; 10(3):330-6. PubMed ID: 7670472
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type.
    Langer LO; Schaefer GB; Wadsworth DT
    Am J Med Genet; 1993 Oct; 47(5):772-81. PubMed ID: 8267011
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.
    Susic S; McGrory J; Ahier J; Cole WG
    Clin Genet; 1997 Apr; 51(4):219-24. PubMed ID: 9184241
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
    Briggs MD; Mortier GR; Cole WG; King LM; Golik SS; Bonaventure J; Nuytinck L; De Paepe A; Leroy JG; Biesecker L; Lipson M; Wilcox WR; Lachman RS; Rimoin DL; Knowlton RG; Cohn DH
    Am J Hum Genet; 1998 Feb; 62(2):311-9. PubMed ID: 9463320
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
    Deere M; Sanford T; Francomano CA; Daniels K; Hecht JT
    Am J Med Genet; 1999 Aug; 85(5):486-90. PubMed ID: 10405447
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Loughlin J; Irven C; Mustafa Z; Briggs MD; Carr A; Lynch SA; Knowlton RG; Cohn DH; Sykes B
    Hum Mutat; 1998; Suppl 1():S10-7. PubMed ID: 9452026
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Molecular diagnosis is important to confirm suspected pseudoachondroplasia.
    Newman B; Donnah D; Briggs MD
    J Med Genet; 2000 Jan; 37(1):64-5. PubMed ID: 10691412
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
    Unger S; Korkko J; Krakow D; Lachman RS; Rimoin DL; Cohn DH
    Am J Med Genet; 2001 Nov; 104(2):140-6. PubMed ID: 11746045
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.
    Briggs MD; Choi H; Warman ML; Loughlin JA; Wordsworth P; Sykes BC; Irven CM; Smith M; Wynne-Davies R; Lipson MH
    Am J Hum Genet; 1994 Oct; 55(4):678-84. PubMed ID: 7942845
    [TBL] [Abstract][Full Text] [Related]  

  • 16. COL9A3: A third locus for multiple epiphyseal dysplasia.
    Paassilta P; Lohiniva J; Annunen S; Bonaventure J; Le Merrer M; Pai L; Ala-Kokko L
    Am J Hum Genet; 1999 Apr; 64(4):1036-44. PubMed ID: 10090888
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias.
    Loughlin J; Irven C; Sykes B
    Hum Genet; 1994 Dec; 94(6):698-700. PubMed ID: 7989046
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
    Délot E; King LM; Briggs MD; Wilcox WR; Cohn DH
    Hum Mol Genet; 1999 Jan; 8(1):123-8. PubMed ID: 9887340
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.