BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

113 related articles for article (PubMed ID: 27282461)

  • 1. Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges.
    Papamerkouriou YM; Doulgeraki A; Gyftodimou Y; Athanasopoulou H; Tsiridis E; Anastasopoulos J
    J Musculoskelet Neuronal Interact; 2016 Jun; 16(2):168-71. PubMed ID: 27282461
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus.
    Tanner L; Vainio P; Sandell M; Laine J
    Pediatr Dev Pathol; 2017; 20(5):455-459. PubMed ID: 28812463
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome.
    Chen CP; Lin SP; Su YN; Chern SR; Su JW; Wang W
    Taiwan J Obstet Gynecol; 2013 Mar; 52(1):152-3. PubMed ID: 23548243
    [No Abstract]   [Full Text] [Related]  

  • 6. Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus.
    Redman MG; Wagner BE; Balasubramanian M
    Eur J Med Genet; 2020 Dec; 63(12):104095. PubMed ID: 33166682
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Osteogenesis imperfecta: clinical, biochemical and molecular findings.
    Venturi G; Tedeschi E; Mottes M; Valli M; Camilot M; Viglio S; Antoniazzi F; Tatò L
    Clin Genet; 2006 Aug; 70(2):131-9. PubMed ID: 16879195
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Osteogenesis imperfecta: clinical and genetic heterogeneity].
    van Dijk FS; Cobben JM; Maugeri A; Nikkels PG; van Rijn RR; Pals G
    Ned Tijdschr Geneeskd; 2012; 156(21):A4585. PubMed ID: 22617071
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.
    Nishimura G; Nakajima M; Takikawa K; Haga N; Ikegawa S
    Am J Med Genet A; 2016 Aug; 170(8):2212-4. PubMed ID: 27264419
    [No Abstract]   [Full Text] [Related]  

  • 10. Osteogenesis imperfecta: diagnosis and treatment.
    Palomo T; Vilaça T; Lazaretti-Castro M
    Curr Opin Endocrinol Diabetes Obes; 2017 Dec; 24(6):381-388. PubMed ID: 28863000
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.
    Balasubramanian M; Sobey GJ; Wagner BE; Peres LC; Bowen J; Bexon J; Javaid MK; Arundel P; Bishop NJ
    Ultrastruct Pathol; 2016; 40(2):71-6. PubMed ID: 26863094
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes.
    Tedeschi E; Antoniazzi F; Venturi G; Zamboni G; Tatò L
    Pediatr Endocrinol Rev; 2006 Sep; 4(1):40-6. PubMed ID: 17021582
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
    Pollitt R; McMahon R; Nunn J; Bamford R; Afifi A; Bishop N; Dalton A
    Hum Mutat; 2006 Jul; 27(7):716. PubMed ID: 16786509
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.
    Yamada T; Takagi M; Nishimura G; Akaishi R; Furuta I; Morikawa M; Yamada T; Cho K; Sawai H; Ikegawa S; Hasegawa T; Minakami H
    Am J Med Genet A; 2012 Nov; 158A(11):2969-71. PubMed ID: 22987783
    [No Abstract]   [Full Text] [Related]  

  • 15. 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]  

  • 16. Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
    Augusciak-Duma A; Witecka J; Sieron AL; Janeczko M; Pietrzyk JJ; Ochman K; Galicka A; Borszewska-Kornacka MK; Pilch J; Jakubowska-Pietkiewicz E
    Acta Biochim Pol; 2018; 65(1):79-86. PubMed ID: 29543922
    [TBL] [Abstract][Full Text] [Related]  

  • 17. What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.
    Pepin MG; Byers PH
    Am J Med Genet C Semin Med Genet; 2015 Dec; 169(4):307-13. PubMed ID: 26566591
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II.
    Chen CP; Su YN; Chang TY; Chern SR; Su JW; Wang W
    Taiwan J Obstet Gynecol; 2012 Jun; 51(2):308-11. PubMed ID: 22795119
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.