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 *

99 related articles for article (PubMed ID: 3005580)

  • 21. Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta.
    Mirandola S; Pignatti PF; Mottes M
    Mol Cell Probes; 2000 Dec; 14(6):329-32. PubMed ID: 11090261
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster.
    Old JM; Heath C; Fitches A; Thein SL; Jeffreys AJ; Petrou M; Modell B; Weatherall DJ
    J Med Genet; 1986 Feb; 23(1):14-8. PubMed ID: 3005579
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetic segregation analysis of familial mitral valve prolapse shows no linkage to fibrillar collagen genes.
    Wordsworth P; Ogilvie D; Akhras F; Jackson G; Sykes B
    Br Heart J; 1989 Mar; 61(3):300-6. PubMed ID: 2930669
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.
    Dalgleish R; Hawkins JR; Keston M
    J Med Genet; 1987 Mar; 24(3):148-51. PubMed ID: 2883320
    [TBL] [Abstract][Full Text] [Related]  

  • 25. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.
    Richards AJ; Martin S; Yates JR; Scott JD; Baguley DM; Pope FM; Snead MP
    Br J Ophthalmol; 2000 Apr; 84(4):364-71. PubMed ID: 10729292
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A highly polymorphic PCR/RFLP marker in the canine type II collagen gene (COL2A1).
    Du F; Acland GM; Ray J
    Anim Genet; 1998 Oct; 29(5):407-8. PubMed ID: 9800341
    [No Abstract]   [Full Text] [Related]  

  • 27. The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen.
    Francomano CA; Liberfarb RM; Hirose T; Maumenee IH; Streeten EA; Meyers DA; Pyeritz RE
    Pathol Immunopathol Res; 1988; 7(1-2):104-6. PubMed ID: 3222200
    [No Abstract]   [Full Text] [Related]  

  • 28. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
    Rousseau F; Bonaventure J; Legeai-Mallet L; Pelet A; Rozet JM; Maroteaux P; Le Merrer M; Munnich A
    Nature; 1994 Sep; 371(6494):252-4. PubMed ID: 8078586
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].
    Zhu B; Dong QM; Huang XH; Ji GQ; Chen Y; Wang WX; Jiang HY; Gao JS
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct; 20(5):373-5. PubMed ID: 14556186
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.
    Hecht JT; Blanton SH; Wang Y; Daiger SP; Horton WA; Rhodes C; Yamada Y; Francomano CA
    Am J Med Genet; 1992 Nov; 44(4):420-4. PubMed ID: 1442879
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel
    Gu C; Yang Z; Tan H; Zhang Y; Lu Y; Ma Y
    Biomed Res Int; 2017; 2017():5809787. PubMed ID: 29104872
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Correlation of linkage data with phenotype in eight families with Stickler syndrome.
    Wilkin DJ; Mortier GR; Johnson CL; Jones MC; de Paepe A; Shohat M; Wildin RS; Falk RE; Cohn DH
    Am J Med Genet; 1998 Nov; 80(2):121-7. PubMed ID: 9805127
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Molecular studies in achondroplasia using Co12A1 probes.
    Strom CM
    Basic Life Sci; 1988; 48():59-60. PubMed ID: 3240285
    [No Abstract]   [Full Text] [Related]  

  • 34. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
    Bellus GA; McIntosh I; Smith EA; Aylsworth AS; Kaitila I; Horton WA; Greenhaw GA; Hecht JT; Francomano CA
    Nat Genet; 1995 Jul; 10(3):357-9. PubMed ID: 7670477
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.
    Heinrich T; Nanda I; Rehn M; Zollner U; Ernestus K; Wirth C; Schlüter G; Schmid M; Kunstmann E
    Cytogenet Genome Res; 2015; 145(1):25-8. PubMed ID: 25823796
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
    Williams CJ; Ganguly A; Considine E; McCarron S; Prockop DJ; Walsh-Vockley C; Michels VV
    Am J Med Genet; 1996 Jun; 63(3):461-7. PubMed ID: 8737653
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Impact of mutations of cartilage matrix genes on matrix structure, gene activity and chondrogenesis.
    So CL; Kaluarachchi K; Tam PP; Cheah KS
    Osteoarthritis Cartilage; 2001; 9 Suppl A():S160-73. PubMed ID: 11680681
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Disproportionate micromelia (Dmm) in mice caused by a mutation in the C-propeptide coding region of Col2a1.
    Pace JM; Li Y; Seegmiller RE; Teuscher C; Taylor BA; Olsen BR
    Dev Dyn; 1997 Jan; 208(1):25-33. PubMed ID: 8989518
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Sheep gene mapping: synteny between COL2A1 and the LDHB-PEPB-TPI-GAPD-LALBA-IGF1 group.
    Imam-Ghali M; Saidi-Mehtar N; Guerin G
    Anim Genet; 1992; 23(6):529-32. PubMed ID: 1492704
    [TBL] [Abstract][Full Text] [Related]  

  • 40. SOX9 directly regulates the type-II collagen gene.
    Bell DM; Leung KK; Wheatley SC; Ng LJ; Zhou S; Ling KW; Sham MH; Koopman P; Tam PP; Cheah KS
    Nat Genet; 1997 Jun; 16(2):174-8. PubMed ID: 9171829
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.