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 *

213 related articles for article (PubMed ID: 23934635)

  • 1. A rare case of osteogenesis imperfecta combined with complete tooth loss.
    Lu Y; Zhao F; Ren X; Li Z; Yang X; Han J
    J Pediatr Endocrinol Metab; 2014 Jan; 27(1-2):143-7. PubMed ID: 23934635
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.
    Malmgren B; Andersson K; Lindahl K; Kindmark A; Grigelioniene G; Zachariadis V; Dahllöf G; Åström E
    Oral Dis; 2017 Jan; 23(1):42-49. PubMed ID: 27510842
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
    Xia XY; Cui YX; Huang YF; Pan LJ; Yang B; Wang HY; Li XJ; Shi YC; Lu HY; Zhou YC
    Clin Chim Acta; 2008 Dec; 398(1-2):148-51. PubMed ID: 18755172
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
    Udomchaiprasertkul W; Kuptanon C; Porntaveetus T; Shotelersuk V
    Eur J Med Genet; 2020 Jun; 63(6):103896. PubMed ID: 32081708
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
    Vandersteen AM; Lund AM; Ferguson DJ; Sawle P; Pollitt RC; Holder SE; Wakeling E; Moat N; Pope FM
    Am J Med Genet A; 2014 Feb; 164A(2):386-91. PubMed ID: 24311407
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.
    Costantini A; Tournis S; Kämpe A; Ul Ain N; Taylan F; Doulgeraki A; Mäkitie O
    Calcif Tissue Int; 2018 Sep; 103(3):353-358. PubMed ID: 29572562
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
    Xia XY; Li WW; Li N; Wu QY; Cui YX; Li XJ
    Mol Med Rep; 2014 Jun; 9(6):2187-90. PubMed ID: 24682174
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.
    Glorieux FH; Ward LM; Rauch F; Lalic L; Roughley PJ; Travers R
    J Bone Miner Res; 2002 Jan; 17(1):30-8. PubMed ID: 11771667
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father.
    Chen CP; Su YN; Chang TY; Chern SR; Chen CY; Su JW; Wang W
    Taiwan J Obstet Gynecol; 2012 Jun; 51(2):276-9. PubMed ID: 22795108
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
    Andersson K; Dahllöf G; Lindahl K; Kindmark A; Grigelioniene G; Åström E; Malmgren B
    PLoS One; 2017; 12(5):e0176466. PubMed ID: 28498836
    [TBL] [Abstract][Full Text] [Related]  

  • 11. COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.
    Wang M; Guo Y; Rong P; Xu H; Gong L; Deng H; Yuan L
    Mol Genet Genomic Med; 2019 May; 7(5):e619. PubMed ID: 30829463
    [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. Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.
    Wang SK; Chan HC; Makovey I; Simmer JP; Hu JC
    PLoS One; 2012; 7(12):e51533. PubMed ID: 23227268
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
    Lindahl K; Åström E; Rubin CJ; Grigelioniene G; Malmgren B; Ljunggren Ö; Kindmark A
    Eur J Hum Genet; 2015 Aug; 23(8):1042-50. PubMed ID: 25944380
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pediatric dental management of a patient with osteogenesis imperfecta and dentinogenesis imperfecta.
    Muhney K; Campbell PR
    Spec Care Dentist; 2007; 27(6):240-5. PubMed ID: 18683807
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Discrepancies in the Phenotypical Classification of Osteogenesis Imperfecta in a Patient with COL1A2 Mutation: A Case Report.
    Mahneva O; Victor-Linkenhoker V
    Am J Case Rep; 2023 Dec; 24():e942239. PubMed ID: 38148598
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.
    Hartikka H; Kuurila K; Körkkö J; Kaitila I; Grénman R; Pynnönen S; Hyland JC; Ala-Kokko L
    Hum Mutat; 2004 Aug; 24(2):147-54. PubMed ID: 15241796
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.
    Peng H; Zhang Y; Long Z; Zhao D; Guo Z; Xue J; Xie Z; Xiong Z; Xu X; Su W; Wang B; Xia K; Hu Z
    Gene; 2012 Jul; 502(2):168-71. PubMed ID: 22565191
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].
    Qin W; He JX; Shi J; Xing QH; Gao JJ; He L; Qian XQ; Liu ZJ; Shu AL; He L
    Yi Chuan Xue Bao; 2005 Mar; 32(3):248-52. PubMed ID: 15931785
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.
    Reuter MS; Schwabe GC; Ehlers C; Marschall C; Reis A; Thiel C; Graul-Neumann L
    Eur J Med Genet; 2013 Dec; 56(12):669-73. PubMed ID: 24140640
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.