BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

88 related articles for article (PubMed ID: 2591074)

  • 1. Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta.
    Thompson EM; Young ID; Hall CM; Pembrey ME
    Clin Genet; 1989 Dec; 36(6):464. PubMed ID: 2591074
    [No Abstract]   [Full Text] [Related]  

  • 2. Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta.
    Williams EM; Nicholls AC; Daw SC; Mitchell N; Levin LS; Green B; MacKenzie J; Evans DR; Chudleigh PA; Pope FM
    Clin Genet; 1989 Mar; 35(3):181-90. PubMed ID: 2650933
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome.
    Beighton P; Winship I; Behari D
    Clin Genet; 1985 Jul; 28(1):69-75. PubMed ID: 4028503
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Autosomal recessive inheritance of osteogenesis imperfecta.
    Horan F; Beighton P
    Clin Genet; 1975 Aug; 8(2):107-11. PubMed ID: 1175315
    [No Abstract]   [Full Text] [Related]  

  • 5. Osteogenesis imperfecta.
    Byers PH; Steiner RD
    Annu Rev Med; 1992; 43():269-82. PubMed ID: 1580589
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance.
    Brady AF; Patton MA
    Clin Dysmorphol; 1997 Oct; 6(4):329-36. PubMed ID: 9354841
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Recent advances in osteogenesis imperfecta.
    Cundy T
    Calcif Tissue Int; 2012 Jun; 90(6):439-49. PubMed ID: 22451222
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity.
    Sillence DO; Rimoin DL; Danks DM
    Birth Defects Orig Artic Ser; 1979; 15(5B):113-29. PubMed ID: 393318
    [No Abstract]   [Full Text] [Related]  

  • 9. Homozygous osteogenesis imperfecta unlinked to collagen I genes.
    Aitchison K; Ogilvie D; Honeyman M; Thompson E; Sykes B
    Hum Genet; 1988 Mar; 78(3):233-6. PubMed ID: 2894346
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.
    Fiscaletti M; Biggin A; Bennetts B; Wong K; Briody J; Pacey V; Birman C; Munns CF
    Bone; 2018 May; 110():66-75. PubMed ID: 29382611
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.
    Rubinato E; Morgan A; D'Eustacchio A; Pecile V; Gortani G; Gasparini P; Faletra F
    Gene; 2014 Jul; 545(2):290-2. PubMed ID: 24835313
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Classification of osteogenesis imperfecta.
    Fratzl-Zelman N; Misof BM; Roschger P; Klaushofer K
    Wien Med Wochenschr; 2015 Jul; 165(13-14):264-70. PubMed ID: 26208476
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Osteogenesis imperfecta: an expanding panorama of variants.
    Sillence D
    Clin Orthop Relat Res; 1981 Sep; (159):11-25. PubMed ID: 7285446
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.
    Lv F; Xu XJ; Wang JY; Liu Y; Asan ; Wang JW; Song LJ; Song YW; Jiang Y; Wang O; Xia WB; Xing XP; Li M
    J Hum Genet; 2016 Jun; 61(6):539-45. PubMed ID: 26911354
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Classification of Osteogenesis Imperfecta revisited.
    Van Dijk FS; Pals G; Van Rijn RR; Nikkels PG; Cobben JM
    Eur J Med Genet; 2010; 53(1):1-5. PubMed ID: 19878741
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
    Volodarsky M; Markus B; Cohen I; Staretz-Chacham O; Flusser H; Landau D; Shelef I; Langer Y; Birk OS
    Hum Mutat; 2013 Apr; 34(4):582-6. PubMed ID: 23316006
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Osteogenesis imperfecta; more than only many fractures].
    Hennekam RC
    Ned Tijdschr Geneeskd; 1991 Jan; 135(1):30. PubMed ID: 1990303
    [No Abstract]   [Full Text] [Related]  

  • 18. Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.
    Rohrbach M; Giunta C
    Am J Med Genet C Semin Med Genet; 2012 Aug; 160C(3):175-89. PubMed ID: 22791419
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Genetic heterogeneity of osteogenesis imperfecta. Study of 6 cases].
    Olivares JL; Hernández MC; Bueno M
    An Esp Pediatr; 1986 Sep; 25(3):154-60. PubMed ID: 3789548
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Osteogenesis imperfecta: clinical and genetic heterogeneity].
    van Dijk FS; Cobben JM; Maugeri A; Nikkels PG; van Rijn RR; Pals G
    Ned Tijdschr Geneeskd; 2012; 156(21):A4585. PubMed ID: 22617071
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.