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 *

190 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. Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.
    Tan Z; Chen P; Zhang J; Shek HT; Li Z; Zhou X; Zhou Y; Yin S; Dong L; Feng L; Wong JSH; Gao B; To MKT
    J Bone Miner Res; 2024 Sep; 39(9):1253-1267. PubMed ID: 39126373
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.