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 *

499 related articles for article (PubMed ID: 25450603)

  • 1. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
    Stephen J; Girisha KM; Dalal A; Shukla A; Shah H; Srivastava P; Kornak U; Phadke SR
    Eur J Med Genet; 2015 Jan; 58(1):21-7. PubMed ID: 25450603
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
    Caparrós-Martin JA; Valencia M; Pulido V; Martínez-Glez V; Rueda-Arenas I; Amr K; Farra C; Lapunzina P; Ruiz-Perez VL; Temtamy S; Aglan M
    Am J Med Genet A; 2013 Jun; 161A(6):1354-69. PubMed ID: 23613367
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
    Hayat A; Hussain S; Bilal M; Kausar M; Almuzzaini B; Abbas S; Tanveer A; Khan A; Siddiqi S; Foo JN; Ahmad F; Khan F; Khan B; Anees M; Mäkitie O; Alfadhel M; Ahmad W; Umair M
    Eur J Med Genet; 2020 Aug; 63(8):103954. PubMed ID: 32413570
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
    Shaheen R; Alazami AM; Alshammari MJ; Faqeih E; Alhashmi N; Mousa N; Alsinani A; Ansari S; Alzahrani F; Al-Owain M; Alzayed ZS; Alkuraya FS
    J Med Genet; 2012 Oct; 49(10):630-5. PubMed ID: 23054245
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
    Wang JY; Liu Y; Song LJ; Lv F; Xu XJ; San A; Wang J; Yang HM; Yang ZY; Jiang Y; Wang O; Xia WB; Xing XP; Li M
    Calcif Tissue Int; 2017 Jan; 100(1):55-66. PubMed ID: 27796462
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.
    Zhang H; Xu Y; Yue H; Wang C; Gu J; He J; Fu W; Hu W; Zhang Z
    Int J Mol Med; 2018 Jun; 41(6):3662-3670. PubMed ID: 29512769
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
    Stephen J; Shukla A; Dalal A; Girisha KM; Shah H; Gupta N; Kabra M; Dabadghao P; Hasegawa K; Tanaka H; Phadke SR
    Am J Med Genet A; 2014 Jun; 164A(6):1482-9. PubMed ID: 24668929
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
    Tüysüz B; Elkanova L; Uludağ Alkaya D; Güleç Ç; Toksoy G; Güneş N; Yazan H; Bayhan AI; Yıldırım T; Yeşil G; Uyguner ZO
    Bone; 2022 Feb; 155():116293. PubMed ID: 34902613
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.
    Liu Y; Asan ; Ma D; Lv F; Xu X; Wang J; Xia W; Jiang Y; Wang O; Xing X; Yu W; Wang J; Sun J; Song L; Zhu Y; Yang H; Wang J; Li M
    Osteoporos Int; 2017 Oct; 28(10):2985-2995. PubMed ID: 28725987
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
    Kausar M; Siddiqi S; Yaqoob M; Mansoor S; Makitie O; Mir A; Khor CC; Foo JN; Anees M
    J Biomed Sci; 2018 Nov; 25(1):82. PubMed ID: 30447692
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
    Mrosk J; Bhavani GS; Shah H; Hecht J; Krüger U; Shukla A; Kornak U; Girisha KM
    Bone; 2018 May; 110():368-377. PubMed ID: 29499418
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
    Lee KS; Song HR; Cho TJ; Kim HJ; Lee TM; Jin HS; Park HY; Kang S; Jung SC; Koo SK
    Hum Mutat; 2006 Jun; 27(6):599. PubMed ID: 16705691
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
    Barbirato C; Trancozo M; Almeida MG; Almeida LS; Santos TO; Duarte JC; Rebouças MR; Sipolatti V; Nunes VR; Paula F
    Genet Mol Res; 2015 Dec; 14(4):15848-58. PubMed ID: 26634552
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
    Becker J; Semler O; Gilissen C; Li Y; Bolz HJ; Giunta C; Bergmann C; Rohrbach M; Koerber F; Zimmermann K; de Vries P; Wirth B; Schoenau E; Wollnik B; Veltman JA; Hoischen A; Netzer C
    Am J Hum Genet; 2011 Mar; 88(3):362-71. PubMed ID: 21353196
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
    Mehta P; Vishvkarma R; Gupta S; Chattopadhyay N; Rajender S
    Mol Biol Rep; 2024 Mar; 51(1):449. PubMed ID: 38536562
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen.
    Venturi G; Gandini A; Monti E; Dalle Carbonare L; Corradi M; Vincenzi M; Valenti MT; Valli M; Pelilli E; Boner A; Mottes M; Antoniazzi F
    J Bone Miner Res; 2012 Mar; 27(3):723-8. PubMed ID: 22113968
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.
    Liu Y; Song L; Ma D; Lv F; Xu X; Wang J; Xia W; Jiang Y; Wang O; Song Y; Xing X; Asan ; Li M
    Clin Chim Acta; 2016 Oct; 461():172-80. PubMed ID: 27450065
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in WNT1 are a cause of osteogenesis imperfecta.
    Fahiminiya S; Majewski J; Mort J; Moffatt P; Glorieux FH; Rauch F
    J Med Genet; 2013 May; 50(5):345-8. PubMed ID: 23434763
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
    Fernandes AM; Rocha-Braz MGM; França MM; Lerario AM; Simões VRF; Zanardo EA; Kulikowski LD; Martin RM; Mendonca BB; Ferraz-de-Souza B
    Osteoporos Int; 2020 Jul; 31(7):1341-1352. PubMed ID: 32123938
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
    Hasegawa K
    Clin Calcium; 2010 Aug; 20(8):1190-5. PubMed ID: 20675929
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.