BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 29481978)

  • 1. Novel mutation in a family with WNT1-related osteoporosis.
    Panigrahi I; Didel S; Kirpal H; Bellampalli R; Miyanath S; Mullapudi N; Rao S
    Eur J Med Genet; 2018 Jul; 61(7):369-371. PubMed ID: 29481978
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations.
    Palomo T; Al-Jallad H; Moffatt P; Glorieux FH; Lentle B; Roschger P; Klaushofer K; Rauch F
    Bone; 2014 Oct; 67():63-70. PubMed ID: 25010833
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
    Song Y; Zhao D; Xu X; Lv F; Li L; Jiang Y; Wang O; Xia W; Xing X; Li M
    Osteoporos Int; 2018 Jun; 29(6):1389-1396. PubMed ID: 29520608
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.
    Peris P; Monegal A; Mäkitie RE; Guañabens N; González-Roca E
    Osteoporos Int; 2023 Feb; 34(2):405-411. PubMed ID: 36396825
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.
    Joeng KS; Lee YC; Jiang MM; Bertin TK; Chen Y; Abraham AM; Ding H; Bi X; Ambrose CG; Lee BH
    Hum Mol Genet; 2014 Aug; 23(15):4035-42. PubMed ID: 24634143
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.
    Chen P; Chen J; Yang Z; Lu Y; Shen L; Zhou K; Ye S; Shen B
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1350. PubMed ID: 32529806
    [TBL] [Abstract][Full Text] [Related]  

  • 13. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
    Pyott SM; Tran TT; Leistritz DF; Pepin MG; Mendelsohn NJ; Temme RT; Fernandez BA; Elsayed SM; Elsobky E; Verma I; Nair S; Turner EH; Smith JD; Jarvik GP; Byers PH
    Am J Hum Genet; 2013 Apr; 92(4):590-7. PubMed ID: 23499310
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.
    Xu XJ; Lv F; Liu Y; Wang JY; Ma DD; Asan ; Wang JW; Song LJ; Jiang Y; Wang O; Xia WB; Xing XP; Li M
    J Hum Genet; 2017 Feb; 62(2):205-211. PubMed ID: 27762305
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype.
    Choksi IN; Cox A; Robinson C; Bale A; Carpenter TO
    Osteoporos Int; 2021 Jun; 32(6):1239-1244. PubMed ID: 33624138
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.
    Nampoothiri S; Guillemyn B; Elcioglu N; Jagadeesh S; Yesodharan D; Suresh B; Turan S; Symoens S; Malfait F
    Am J Med Genet A; 2019 Jun; 179(6):908-914. PubMed ID: 30896082
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta.
    Xi L; Lv S; Zhang H; Zhang ZL
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1676. PubMed ID: 33818922
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Long-term follow-up in osteogenesis imperfecta type VI.
    Trejo P; Palomo T; Montpetit K; Fassier F; Sato A; Glorieux FH; Rauch F
    Osteoporos Int; 2017 Oct; 28(10):2975-2983. PubMed ID: 28689307
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.