BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 1971141)

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

  • 42. IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC).
    De Kinderen P; Rabaut L; Perik MHAM; Peeters S; Ponsaerts P; Loeys B; Mortier G; Meester JAN; Verstraeten A
    Stem Cell Res; 2023 Jun; 69():103080. PubMed ID: 36966641
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. [Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].
    Li H; Ji A; Ma L; Wang B; Li Y; Cui Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr; 32(2):240-4. PubMed ID: 25863096
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
    Williams CJ; Considine EL; Knowlton RG; Reginato A; Neumann G; Harrison D; Buxton P; Jimenez S; Prockop DJ
    Hum Genet; 1993 Nov; 92(5):499-505. PubMed ID: 8244341
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies.
    Chitty LS; Tan AW; Nesbit DL; Hall CM; Rodeck CH
    Prenat Diagn; 2006 Sep; 26(9):861-5. PubMed ID: 16874841
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
    Mortier GR; Chapman K; Leroy JL; Briggs MD
    Eur J Hum Genet; 2001 Aug; 9(8):606-12. PubMed ID: 11528506
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Type VII collagen DNA linkage analysis in a Japanese family with dominant dystrophic epidermolysis bullosa.
    Nomura K; Nakano H; Harada K; Umeki K; Kon A; Sawamura D; Mitsuhashi Y; Hashimoto I; Uitto J
    J Dermatol Sci; 1994 Dec; 8(3):165-70. PubMed ID: 7865472
    [TBL] [Abstract][Full Text] [Related]  

  • 50. New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability.
    Reardon W; Hall CM; Shaw DG; Kendall B; Hayward R; Winter RM
    Am J Med Genet; 1994 Oct; 52(4):432-7. PubMed ID: 7747755
    [TBL] [Abstract][Full Text] [Related]  

  • 51. 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]  

  • 52. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.
    Iughetti P; Alonso LG; Wilcox W; Alonso N; Passos-Bueno MR
    Am J Med Genet; 2000 Dec; 95(5):482-91. PubMed ID: 11146471
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. 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; 80(3):431-7. PubMed ID: 7859284
    [TBL] [Abstract][Full Text] [Related]  

  • 55. 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]  

  • 56. Linkage analysis of GLUT1 (HepG2) and GLUT2 (liver/islet) genes in familial NIDDM.
    Elbein SC; Hoffman MD; Matsutani A; Permutt MA
    Diabetes; 1992 Dec; 41(12):1660-7. PubMed ID: 1359987
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.
    Eyre S; Roby P; Wolstencroft K; Spreckley K; Aspinwall R; Bayoumi R; Al-Gazali L; Ramesar R; Beighton P; Wallis G
    J Med Genet; 2002 Sep; 39(9):634-8. PubMed ID: 12205105
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.
    Zabel B; Hilbert K; Stöss H; Superti-Furga A; Spranger J; Winterpacht A
    Am J Med Genet; 1996 May; 63(1):123-8. PubMed ID: 8723097
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
    MacDermot KD; Roth SC; Hall C; Winter RM
    J Med Genet; 1987 Oct; 24(10):602-8. PubMed ID: 3681905
    [TBL] [Abstract][Full Text] [Related]  

  • 60. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
    Wilkin DJ; Bogaert R; Lachman RS; Rimoin DL; Eyre DR; Cohn DH
    Hum Mol Genet; 1994 Nov; 3(11):1999-2003. PubMed ID: 7874117
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.