BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

295 related articles for article (PubMed ID: 8157027)

  • 1. The type II collagenopathies: a spectrum of chondrodysplasias.
    Spranger J; Winterpacht A; Zabel B
    Eur J Pediatr; 1994 Feb; 153(2):56-65. PubMed ID: 8157027
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Osteochondrodysplasia determined genetically by a collagen type II gene mutation].
    Czarny-Ratajczak M; Rogala P; Wolnik-Brzozowska D; Latos-Bieleńska A
    Chir Narzadow Ruchu Ortop Pol; 2001; 66(1):79-86. PubMed ID: 11481990
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Radiologic Features of Type II and Type XI Collagenopathies.
    Handa A; Grigelioniene G; Nishimura G
    Radiographics; 2021; 41(1):192-209. PubMed ID: 33186059
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
    Spranger J; Menger H; Mundlos S; Winterpacht A; Zabel B
    Pediatr Radiol; 1994; 24(6):431-5. PubMed ID: 7700721
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.
    Godfrey M; Hollister DW
    Am J Hum Genet; 1988 Dec; 43(6):904-13. PubMed ID: 3195588
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
    Barat-Houari M; Sarrabay G; Gatinois V; Fabre A; Dumont B; Genevieve D; Touitou I
    Hum Mutat; 2016 Jan; 37(1):7-15. PubMed ID: 26443184
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
    Hoornaert KP; Dewinter C; Vereecke I; Beemer FA; Courtens W; Fryer A; Fryssira H; Lees M; Müllner-Eidenböck A; Rimoin DL; Siderius L; Superti-Furga A; Temple K; Willems PJ; Zankl A; Zweier C; De Paepe A; Coucke P; Mortier GR
    J Med Genet; 2006 May; 43(5):406-13. PubMed ID: 16155195
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Type II collagenopathies: are there additional family members?
    Freisinger P; Bonaventure J; Stoess H; Pontz BF; Emmrich P; Nerlich A
    Am J Med Genet; 1996 May; 63(1):137-43. PubMed ID: 8723099
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
    Barat-Houari M; Dumont B; Fabre A; Them FT; Alembik Y; Alessandri JL; Amiel J; Audebert S; Baumann-Morel C; Blanchet P; Bieth E; Brechard M; Busa T; Calvas P; Capri Y; Cartault F; Chassaing N; Ciorca V; Coubes C; David A; Delezoide AL; Dupin-Deguine D; El Chehadeh S; Faivre L; Giuliano F; Goldenberg A; Isidor B; Jacquemont ML; Julia S; Kaplan J; Lacombe D; Lebrun M; Marlin S; Martin-Coignard D; Martinovic J; Masurel A; Melki J; Mozelle-Nivoix M; Nguyen K; Odent S; Philip N; Pinson L; Plessis G; Quélin C; Shaeffer E; Sigaudy S; Thauvin C; Till M; Touraine R; Vigneron J; Baujat G; Cormier-Daire V; Le Merrer M; Geneviève D; Touitou I
    Eur J Hum Genet; 2016 Jul; 24(7):992-1000. PubMed ID: 26626311
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
    Cui YX; Xia XY; Bu Y; Zhou GH; Yang B; Lu HY; Shi YC; Pan LJ; Huang YF; Li XJ
    Genet Test; 2008 Dec; 12(4):533-6. PubMed ID: 19072565
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
    Bogaert R; Wilkin D; Wilcox WR; Lachman R; Rimoin D; Cohn DH; Eyre DR
    Am J Hum Genet; 1994 Dec; 55(6):1128-36. PubMed ID: 7977371
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
    Tiller GE; Weis MA; Polumbo PA; Gruber HE; Rimoin DL; Cohn DH; Eyre DR
    Am J Hum Genet; 1995 Feb; 56(2):388-95. PubMed ID: 7847372
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
    Weis MA; Wilkin DJ; Kim HJ; Wilcox WR; Lachman RS; Rimoin DL; Cohn DH; Eyre DR
    J Biol Chem; 1998 Feb; 273(8):4761-8. PubMed ID: 9468540
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Ophthalmic and molecular genetic findings in Kniest dysplasia.
    Sergouniotis PI; Fincham GS; McNinch AM; Spickett C; Poulson AV; Richards AJ; Snead MP
    Eye (Lond); 2015 Apr; 29(4):475-82. PubMed ID: 25592122
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
    Winterpacht A; Hilbert M; Schwarze U; Mundlos S; Spranger J; Zabel BU
    Nat Genet; 1993 Apr; 3(4):323-6. PubMed ID: 7981752
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
    Mortier GR; Wilkin DJ; Wilcox WR; Rimoin DL; Lachman RS; Eyre DR; Cohn DH
    Hum Mol Genet; 1995 Feb; 4(2):285-8. PubMed ID: 7757081
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Achondrogenesis type II-hypochondrogenesis: radiological features.Case report].
    Delgado Carrasco J; Casanova Morcillo A; Zabalza Alvillos M; Ayala Garcés A
    An Esp Pediatr; 2001 Dec; 55(6):553-7. PubMed ID: 11730591
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.