BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 12054167)

  • 1. Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.
    Van Hul E; Gram J; Bollerslev J; Van Wesenbeeck L; Mathysen D; Andersen PE; Vanhoenacker F; Van Hul W
    J Bone Miner Res; 2002 Jun; 17(6):1111-7. PubMed ID: 12054167
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.
    Bénichou O; Cleiren E; Gram J; Bollerslev J; de Vernejoul MC; Van Hul W
    Am J Hum Genet; 2001 Sep; 69(3):647-54. PubMed ID: 11468688
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo.
    Henriksen K; Gram J; Høegh-Andersen P; Jemtland R; Ueland T; Dziegiel MH; Schaller S; Bollerslev J; Karsdal MA
    Am J Pathol; 2005 Nov; 167(5):1341-8. PubMed ID: 16251418
    [TBL] [Abstract][Full Text] [Related]  

  • 4. High bone density due to a mutation in LDL-receptor-related protein 5.
    Boyden LM; Mao J; Belsky J; Mitzner L; Farhi A; Mitnick MA; Wu D; Insogna K; Lifton RP
    N Engl J Med; 2002 May; 346(20):1513-21. PubMed ID: 12015390
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Further evidence for genetic heterogeneity within type II autosomal dominant osteopetrosis.
    Bénichou OD; Bénichou B; Copin H; De Vernejoul MC; Van Hul W
    J Bone Miner Res; 2000 Oct; 15(10):1900-4. PubMed ID: 11028441
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Locus heterogeneity of autosomal dominant osteopetrosis (ADO).
    White KE; Koller DL; Takacs I; Buckwalter KA; Foroud T; Econs MJ
    J Clin Endocrinol Metab; 1999 Mar; 84(3):1047-51. PubMed ID: 10084593
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
    Cleiren E; Bénichou O; Van Hul E; Gram J; Bollerslev J; Singer FR; Beaverson K; Aledo A; Whyte MP; Yoneyama T; deVernejoul MC; Van Hul W
    Hum Mol Genet; 2001 Dec; 10(25):2861-7. PubMed ID: 11741829
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21.
    Van Hul W; Bollerslev J; Gram J; Van Hul E; Wuyts W; Benichou O; Vanhoenacker F; Willems PJ
    Am J Hum Genet; 1997 Aug; 61(2):363-9. PubMed ID: 9311741
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.
    Heaney C; Shalev H; Elbedour K; Carmi R; Staack JB; Sheffield VC; Beier DR
    Hum Mol Genet; 1998 Sep; 7(9):1407-10. PubMed ID: 9700194
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.
    Zhang XY; He JW; Fu WZ; Wang C; Zhang ZL
    Acta Pharmacol Sin; 2017 Nov; 38(11):1456-1465. PubMed ID: 28816234
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
    Frattini A; Pangrazio A; Susani L; Sobacchi C; Mirolo M; Abinun M; Andolina M; Flanagan A; Horwitz EM; Mihci E; Notarangelo LD; Ramenghi U; Teti A; Van Hove J; Vujic D; Young T; Albertini A; Orchard PJ; Vezzoni P; Villa A
    J Bone Miner Res; 2003 Oct; 18(10):1740-7. PubMed ID: 14584882
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Autosomal dominant osteopetrosis.
    Bollerslev J; Mosekilde L
    Clin Orthop Relat Res; 1993 Sep; (294):45-51. PubMed ID: 8358946
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
    Van Wesenbeeck L; Cleiren E; Gram J; Beals RK; Bénichou O; Scopelliti D; Key L; Renton T; Bartels C; Gong Y; Warman ML; De Vernejoul MC; Bollerslev J; Van Hul W
    Am J Hum Genet; 2003 Mar; 72(3):763-71. PubMed ID: 12579474
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation.
    Wada K; Harada D; Michigami T; Tachikawa K; Nakano Y; Kashiwagi H; Yamashita S; Sano T; Seino Y
    J Pediatr Endocrinol Metab; 2013; 26(5-6):575-7. PubMed ID: 23412864
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
    Campos-Xavier AB; Saraiva JM; Ribeiro LM; Munnich A; Cormier-Daire V
    Hum Genet; 2003 Feb; 112(2):186-9. PubMed ID: 12522560
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
    Yu T; Yu Y; Wang J; Yin L; Zhou Y; Ying D; Huang R; Chen H; Wu S; Shen Y; Fu Q; Chen F
    Mol Med Rep; 2014 Apr; 9(4):1191-6. PubMed ID: 24535484
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.
    Ramírez A; Faupel J; Goebel I; Stiller A; Beyer S; Stöckle C; Hasan C; Bode U; Kornak U; Kubisch C
    Hum Mutat; 2004 May; 23(5):471-6. PubMed ID: 15108279
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.
    Jiao X; Ventruto V; Trese MT; Shastry BS; Hejtmancik JF
    Am J Hum Genet; 2004 Nov; 75(5):878-84. PubMed ID: 15346351
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Serum levels of TGF-beta and fibronectin in autosomal dominant osteopetrosis in relation to underlying mutations and well-described murine counterparts.
    Bollerslev J; Ueland T; Odgren PR
    Crit Rev Eukaryot Gene Expr; 2003; 13(2-4):163-71. PubMed ID: 14696964
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal dominant osteopetrosis: an otoneurological investigation of the two radiological types.
    Bollerslev J; Grøntved A; Andersen PE
    Laryngoscope; 1988 Apr; 98(4):411-3. PubMed ID: 3352441
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.