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Journal Abstract Search

118 related items for PubMed ID: 2899976

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
    Bennett TM, Mackay DS, Knopf HL, Shiels A.
    Mol Vis; 2004 Jun 11; 10():376-82. PubMed ID: 15208569
    [Abstract] [Full Text] [Related]

  • 23. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
    Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():890-900. PubMed ID: 15570218
    [Abstract] [Full Text] [Related]

  • 24. Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.
    Ahn TG, Antonarakis SE, Kronenberg HM, Igarashi T, Levine MA.
    Medicine (Baltimore); 1986 Mar 17; 65(2):73-81. PubMed ID: 3005800
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  • 27. 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 17; 46(5):896-901. PubMed ID: 1971141
    [Abstract] [Full Text] [Related]

  • 28. Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.
    Knowlton RG, Katzenstein PL, Moskowitz RW, Weaver EJ, Malemud CJ, Pathria MN, Jimenez SA, Prockop DJ.
    N Engl J Med; 1990 Feb 22; 322(8):526-30. PubMed ID: 2300123
    [No Abstract] [Full Text] [Related]

  • 29. 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 22; 48(3):518-24. PubMed ID: 1671807
    [Abstract] [Full Text] [Related]

  • 30. Molecular characterization of a type II collagen defect in spondyloepiphyseal dysplasia.
    Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D.
    Trans Assoc Am Physicians; 1989 Mar 22; 102():20-9. PubMed ID: 2638526
    [No Abstract] [Full Text] [Related]

  • 31. 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 22; 25(8):521-7. PubMed ID: 2902229
    [Abstract] [Full Text] [Related]

  • 32. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.
    Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE.
    Genomics; 1987 Dec 22; 1(4):293-6. PubMed ID: 2896625
    [Abstract] [Full Text] [Related]

  • 33. [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 Dec 22; 66(1):79-86. PubMed ID: 11481990
    [Abstract] [Full Text] [Related]

  • 34. 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 22; 11(1):87-9. PubMed ID: 7550321
    [Abstract] [Full Text] [Related]

  • 35. Evaluation of candidate genes as a cause of chondrodysplasia in Labrador retrievers.
    Smit JJ, Temwitchitr J, Brocks BA, Nikkels PG, Hazewinkel HA, Leegwater PA.
    Vet J; 2011 Feb 22; 187(2):269-71. PubMed ID: 20018534
    [Abstract] [Full Text] [Related]

  • 36. 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 01; 45(3):345-52. PubMed ID: 8094597
    [Abstract] [Full Text] [Related]

  • 37. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
    Tiller GE, Rimoin DL, Murray LW, Cohn DH.
    Proc Natl Acad Sci U S A; 1990 May 01; 87(10):3889-93. PubMed ID: 2339128
    [Abstract] [Full Text] [Related]

  • 38. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
    Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D.
    Science; 1989 May 26; 244(4907):978-80. PubMed ID: 2543071
    [Abstract] [Full Text] [Related]

  • 39. 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 26; 55(6):1128-36. PubMed ID: 7977371
    [Abstract] [Full Text] [Related]

  • 40. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
    Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH.
    Cell; 1995 Feb 10; 80(3):431-7. PubMed ID: 7859284
    [Abstract] [Full Text] [Related]

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