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 *

101 related articles for article (PubMed ID: 2732992)

  • 1. Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.
    Elima K; Kaitila I; Mikonoja L; Elonsalo U; Peltonen L; Vuorio E
    J Med Genet; 1989 May; 26(5):314-9. PubMed ID: 2732992
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.
    Wordsworth P; Ogilvie D; Priestley L; Smith R; Wynne-Davies R; Sykes B
    J Med Genet; 1988 Aug; 25(8):521-7. PubMed ID: 2902229
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
    Anderson IJ; Goldberg RB; Marion RW; Upholt WB; Tsipouras P
    Am J Hum Genet; 1990 May; 46(5):896-901. PubMed ID: 1971141
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Acromesomelic dysplasia. Report of case].
    Iriondo Sanz M; Manzanares Bahi R; Pons Peradejordi G; García Menéndez B; Antich Femenias J
    An Esp Pediatr; 1990 Feb; 32(2):167-70. PubMed ID: 2346248
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
    Dwyer E; Hyland J; Modaff P; Pauli RM
    Am J Med Genet A; 2010 Dec; 152A(12):3043-50. PubMed ID: 21077202
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.
    Bonaventure J; Philippe C; Plessis G; Vigneron J; Lasselin C; Maroteaux P; Gilgenkrantz S
    Hum Genet; 1992; 90(1-2):164-8. PubMed ID: 1358786
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1.
    Agerholm JS; Menzi F; McEvoy FJ; Jagannathan V; Drögemüller C
    BMC Vet Res; 2016 Jun; 12():100. PubMed ID: 27296271
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Achondroplasia is not caused by mutation in the gene for type II collagen.
    Francomano CA; Pyeritz RE
    Am J Med Genet; 1988 Apr; 29(4):955-61. PubMed ID: 2899976
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
    Mortier GR; Weis M; Nuytinck L; King LM; Wilkin DJ; De Paepe A; Lachman RS; Rimoin DL; Eyre DR; Cohn DH
    J Med Genet; 2000 Apr; 37(4):263-71. PubMed ID: 10745044
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Abnormality of type IX collagen in a patient with diastrophic dysplasia.
    Diab M; Wu JJ; Shapiro F; Eyre D
    Am J Med Genet; 1994 Feb; 49(4):402-9. PubMed ID: 8160734
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.
    Sher C; Ramesar R; Martell R; Learmonth I; Tsipouras P; Beighton P
    Am J Hum Genet; 1991 Mar; 48(3):518-24. PubMed ID: 1671807
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Diastrophic dysplasia: evidence against a defect of type II collagen.
    Murray LW; Hollister DW; Rimoin DL
    Matrix; 1989; 9(6):459-67. PubMed ID: 2635759
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Small deletions in the type II collagen triple helix produce kniest dysplasia.
    Wilkin DJ; Artz AS; South S; Lachman RS; Rimoin DL; Wilcox WR; McKusick VA; Stratakis CA; Francomano CA; Cohn DH
    Am J Med Genet; 1999 Jul; 85(2):105-12. PubMed ID: 10406661
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.
    Weaver EJ; Summerville GP; Yeh G; Hervada-Page M; Oehlmann R; Rothman R; Jimenez SA; Knowlton RG
    Am J Med Genet; 1993 Feb; 45(3):345-52. PubMed ID: 8094597
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Kniest dysplasia due to mutation of COL2A1 gene].
    Wu M; Liu L; Zhou Z; Sheng H; Yin X; Li X; Cheng J; Huang Y; Cai Y; Li C; Fan L; Liu H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):323-6. PubMed ID: 26037341
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.
    Ogilvie D; Wordsworth P; Thompson E; Sykes B
    J Med Genet; 1986 Feb; 23(1):19-22. PubMed ID: 3005580
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.