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 *

369 related articles for article (PubMed ID: 28261977)

  • 1. Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
    Symoens S; Steyaert W; Demuynck L; De Paepe A; Diderich KE; Malfait F; Coucke PJ
    Am J Med Genet A; 2017 Apr; 173(4):1047-1050. PubMed ID: 28261977
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
    Mackenroth L; Fischer-Zirnsak B; Egerer J; Hecht J; Kallinich T; Stenzel W; Spors B; von Moers A; Mundlos S; Kornak U; Gerhold K; Horn D
    Am J Med Genet A; 2016 Apr; 170A(4):1080-5. PubMed ID: 26799614
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
    Malfait F; Symoens S; Goemans N; Gyftodimou Y; Holmberg E; López-González V; Mortier G; Nampoothiri S; Petersen MB; De Paepe A
    Orphanet J Rare Dis; 2013 May; 8():78. PubMed ID: 23692737
    [TBL] [Abstract][Full Text] [Related]  

  • 4. COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
    Morlino S; Micale L; Ritelli M; Rohrbach M; Zoppi N; Vandersteen A; Mackay S; Agolini E; Cocciadiferro D; Sasaki E; Madeo A; Ferraris A; Reardon W; Di Rocco M; Novelli A; Grammatico P; Malfait F; Mazza T; Hakim A; Giunta C; Colombi M; Castori M
    Clin Genet; 2020 Mar; 97(3):396-406. PubMed ID: 31794058
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in
    Lin Z; Zeng J; Wang X
    Biosci Rep; 2019 Jul; 39(7):. PubMed ID: 31239369
    [TBL] [Abstract][Full Text] [Related]  

  • 6. First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
    Chen F; Guo R; Itoh S; Moreno L; Rosenthal E; Zappitelli T; Zirngibl RA; Flenniken A; Cole W; Grynpas M; Osborne LR; Vogel W; Adamson L; Rossant J; Aubin JE
    J Bone Miner Res; 2014 Jun; 29(6):1412-23. PubMed ID: 24443344
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.
    Morabito LA; Allegri AEM; Capra AP; Capasso M; Capra V; Garaventa A; Maghnie M; Briuglia S; Wasniewska MG
    Genes (Basel); 2022 Mar; 13(4):. PubMed ID: 35456387
    [TBL] [Abstract][Full Text] [Related]  

  • 8. COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
    Venable E; Knight DRT; Thoreson EK; Baudhuin LM
    Am J Med Genet C Semin Med Genet; 2023 Jun; 193(2):147-159. PubMed ID: 36896471
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
    Cabral WA; Makareeva E; Letocha AD; Scribanu N; Fertala A; Steplewski A; Keene DR; Persikov AV; Leikin S; Marini JC
    Hum Mutat; 2007 Apr; 28(4):396-405. PubMed ID: 17206620
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
    Takeda R; Yamaguchi T; Hayashi S; Sano S; Kawame H; Kanki S; Taketani T; Yoshimura H; Nakamura Y; Kosho T
    Am J Med Genet A; 2022 Sep; 188(9):2560-2575. PubMed ID: 35822426
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.
    Cabral WA; Makareeva E; Colige A; Letocha AD; Ty JM; Yeowell HN; Pals G; Leikin S; Marini JC
    J Biol Chem; 2005 May; 280(19):19259-69. PubMed ID: 15728585
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
    Zhang H; Yue H; Wang C; Hu W; Gu J; He J; Fu W; Hu Y; Li M; Zhang Z
    Mol Med Rep; 2016 Nov; 14(5):4918-4926. PubMed ID: 27748872
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.
    Ohata Y; Takeyari S; Nakano Y; Kitaoka T; Nakayama H; Bizaoui V; Yamamoto K; Miyata K; Yamamoto K; Fujiwara M; Kubota T; Michigami T; Yamamoto K; Yamamoto T; Namba N; Ebina K; Yoshikawa H; Ozono K
    Osteoporos Int; 2019 Nov; 30(11):2333-2342. PubMed ID: 31363794
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients.
    Micha D; Pals G; Smit TH; Ghazanfari S
    Biochem Biophys Res Commun; 2020 Jan; 521(2):310-317. PubMed ID: 31668813
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.
    Raff ML; Craigen WJ; Smith LT; Keene DR; Byers PH
    Hum Genet; 2000 Jan; 106(1):19-28. PubMed ID: 10982177
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
    Edwards MJ; Wenstrup RJ; Byers PH; Cohn DH
    Hum Mutat; 1992; 1(1):47-54. PubMed ID: 1301191
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.
    Mundlos S; Chan D; Weng YM; Sillence DO; Cole WG; Bateman JF
    J Biol Chem; 1996 Aug; 271(35):21068-74. PubMed ID: 8702873
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.