BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

106 related articles for article (PubMed ID: 9632164)

  • 1. Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)].
    Ikegawa S; Ohashi H; Hosoda F; Fukushima Y; Ohki M; Nakamura Y
    Am J Med Genet; 1998 Jun; 77(5):356-9. PubMed ID: 9632164
    [TBL] [Abstract][Full Text] [Related]  

  • 2. COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.
    Jung WW; Balce GC; Cho JW; Jung SC; Hong SJ; Song HR
    Int J Mol Med; 2010 Dec; 26(6):885-91. PubMed ID: 21042783
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pseudoachondroplasia: a case report.
    Radlović V; Smoljanić Z; Radlović N; Jakovljević M; Leković Z; Ducić S; Pavićević P
    Srp Arh Celok Lek; 2013; 141(9-10):676-9. PubMed ID: 24364233
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
    Hecht JT; Nelson LD; Crowder E; Wang Y; Elder FF; Harrison WR; Francomano CA; Prange CK; Lennon GG; Deere M
    Nat Genet; 1995 Jul; 10(3):325-9. PubMed ID: 7670471
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
    Mabuchi A; Haga N; Ikeda T; Manabe N; Ohashi H; Takatori Y; Nakamura K; Ikegawa S
    Am J Med Genet; 2001 Nov; 104(2):135-9. PubMed ID: 11746044
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Mesomelic dwarfism in pseudoachondroplasia.
    Song HR; Li QW; Oh CW; Lee KS; Koo SK; Jung SC
    J Pediatr Orthop B; 2004 Sep; 13(5):340-4. PubMed ID: 15552564
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.
    Yu WJ; Zhang Z; He JW; Fu WZ; Wang C; Zhang ZL
    Mol Med Rep; 2016 Sep; 14(3):2180-6. PubMed ID: 27432013
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.
    Briggs MD; Rasmussen IM; Weber JL; Yuen J; Reinker K; Garber AP; Rimoin DL; Cohn DH
    Genomics; 1993 Dec; 18(3):656-60. PubMed ID: 8307576
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A mild form of pseudoachondroplasia: minimal epi-metaphyseal involvement of long bones.
    Manabe N; Nakamura K; Ikegawa S; Kimizuka M
    Eur J Radiol; 1998 Sep; 28(2):155-9. PubMed ID: 9788021
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.
    Deere M; Sanford T; Ferguson HL; Daniels K; Hecht JT
    Am J Med Genet; 1998 Dec; 80(5):510-3. PubMed ID: 9880218
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
    Jacob P; Bhavani GSL; Shah H; Galada C; Nampoothiri S; Kamath N; Phadke SR; Muranjan M; Datar CA; Shukla A; Girisha KM
    Am J Med Genet A; 2022 Mar; 188(3):751-759. PubMed ID: 34750995
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Linkage of typical pseudoachondroplasia to chromosome 19.
    Hecht JT; Francomano CA; Briggs MD; Deere M; Conner B; Horton WA; Warman M; Cohn DH; Blanton SH
    Genomics; 1993 Dec; 18(3):661-6. PubMed ID: 8307577
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Ikegawa S; Ohashi H; Nishimura G; Kim KC; Sannohe A; Kimizuka M; Fukushima Y; Nagai T; Nakamura Y
    Hum Genet; 1998 Dec; 103(6):633-8. PubMed ID: 9921895
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children].
    Li F; Ma HW; Song Y; Hu M; Ren S; Yu YF; Zhao GJ
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):932-6. PubMed ID: 24229583
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature.
    Elliott AM; Bocangel P; Reed MH; Greenberg CR
    Genet Mol Res; 2010 Sep; 9(3):1785-90. PubMed ID: 20830670
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pseudoachondroplasia/COMP - translating from the bench to the bedside.
    Posey KL; Alcorn JL; Hecht JT
    Matrix Biol; 2014 Jul; 37():167-73. PubMed ID: 24892720
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.