BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

287 related articles for article (PubMed ID: 17163530)

  • 1. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
    Walter K; Tansek M; Tobias ES; Ikegawa S; Coucke P; Hyland J; Mortier G; Iwaya T; Nishimura G; Superti-Furga A; Unger S
    Am J Med Genet A; 2007 Jan; 143A(2):161-7. PubMed ID: 17163530
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
    Machol K; Jain M; Almannai M; Orand T; Lu JT; Tran A; Chen Y; Schlesinger A; Gibbs R; Bonafe L; Campos-Xavier AB; Unger S; Superti-Furga A; Lee BH; Campeau PM; Burrage LC
    Am J Med Genet A; 2017 Mar; 173(3):733-739. PubMed ID: 27888646
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
    Chen J; Ma X; Zhou Y; Li G; Guo Q
    BMC Pediatr; 2017 Jul; 17(1):175. PubMed ID: 28738883
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
    Isidor B; Geffroy L; de Courtivron B; Le Caignec C; Thiel CT; Mortier G; Cormier-Daire V; David A; Toutain A
    Am J Med Genet A; 2013 Oct; 161A(10):2645-51. PubMed ID: 23956136
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
    Tysoe C; Saunders J; White L; Hills N; Nicol M; Evans G; Cole T; Chapman S; Pope FM
    QJM; 2003 Sep; 96(9):663-71. PubMed ID: 12925722
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
    Merrick B; Calder A; Wakeling E
    Am J Med Genet A; 2015 Dec; 167A(12):3103-7. PubMed ID: 26250472
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale).
    Kozlowski K; Robben S; Bellemore M; Sillence D; Zonderland H
    Radiol Med; 1993; 85(1-2):7-11. PubMed ID: 8480052
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
    Girisha KM; Bhavani GS; Shah H; Moirangthem A; Shukla A; Kim OH; Nishimura G; Mortier GR
    Am J Med Genet A; 2020 Feb; 182(2):338-347. PubMed ID: 31755234
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
    Tiller GE; Polumbo PA; Weis MA; Bogaert R; Lachman RS; Cohn DH; Rimoin DL; Eyre DR
    Nat Genet; 1995 Sep; 11(1):87-9. PubMed ID: 7550321
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).
    Kaitila I; Körkkö J; Marttinen E; Ala-Kokko L
    Am J Med Genet; 1996 May; 63(1):111-22. PubMed ID: 8723096
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.
    Tüysüz B; Kasap B; Sarıtaş M; Alkaya DU; Bozlak S; Kıykım A; Durmaz A; Yıldırım T; Akpınar E; Apak H; Vural M
    Bone; 2023 Feb; 167():116614. PubMed ID: 36400164
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
    Zankl A; Neumann L; Ignatius J; Nikkels P; Schrander-Stumpel C; Mortier G; Omran H; Wright M; Hilbert K; Bonafé L; Spranger J; Zabel B; Superti-Furga A
    Am J Med Genet A; 2005 Feb; 133A(1):61-7. PubMed ID: 15643621
    [TBL] [Abstract][Full Text] [Related]  

  • 13. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
    Furuichi T; Masuya H; Murakami T; Nishida K; Nishimura G; Suzuki T; Imaizumi K; Kudo T; Ohkawa K; Wakana S; Ikegawa S
    Mamm Genome; 2011 Jun; 22(5-6):318-28. PubMed ID: 21538020
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with
    Xu Y; Li L; Wang C; Yue H; Zhang H; Gu J; Hu W; Liu L; Zhang Z
    Int J Biol Sci; 2020; 16(5):859-868. PubMed ID: 32071555
    [No Abstract]   [Full Text] [Related]  

  • 15. Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.
    Al-Sannaa NA; Hoornaert KP; Van Laer L; Al-Abdulwahed HY; Mortier G
    Eur J Med Genet; 2020 Dec; 63(12):104059. PubMed ID: 32896647
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.
    Sellick GS; Hoornaert KP; Mortier GR; King C; Dolling CL; Newbury-Ecob RA; Gargan M; Hall CM; Houlston RS; Smithson SF
    Clin Dysmorphol; 2006 Oct; 15(4):197-202. PubMed ID: 16957471
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?
    Nakane T; Tando T; Aoyagi K; Hatakeyama K; Nishimura G; Coucke IP; Mortier G; Sugita K
    Mol Syndromol; 2011 Dec; 2(1):21-26. PubMed ID: 22570642
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The type XI collagenopathies.
    Spranger J
    Pediatr Radiol; 1998 Oct; 28(10):745-50. PubMed ID: 9799295
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
    Markova T; Kenis V; Melchenko E; Osipova D; Nagornova T; Orlova A; Zakharova E; Dadali E; Kutsev S
    Genes (Basel); 2022 Jan; 13(1):. PubMed ID: 35052477
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
    Matsui Y; Yasui N; Kawabata H; Ozono K; Nakata K; Mizushima T; Tsumaki N; Kataoka E; Fujita Y; Ochi T
    J Hum Genet; 2000; 45(2):105-8. PubMed ID: 10721676
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.