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 *

264 related articles for article (PubMed ID: 32234057)

  • 1. Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.
    Andersson K; Malmgren B; Åström E; Nordgren A; Taylan F; Dahllöf G
    Orphanet J Rare Dis; 2020 Mar; 15(1):80. PubMed ID: 32234057
    [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. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
    Tüysüz B; Elkanova L; Uludağ Alkaya D; Güleç Ç; Toksoy G; Güneş N; Yazan H; Bayhan AI; Yıldırım T; Yeşil G; Uyguner ZO
    Bone; 2022 Feb; 155():116293. PubMed ID: 34902613
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
    Keller RB; Tran TT; Pyott SM; Pepin MG; Savarirayan R; McGillivray G; Nickerson DA; Bamshad MJ; Byers PH
    Genet Med; 2018 Apr; 20(4):411-419. PubMed ID: 28817112
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
    Bardai G; Moffatt P; Glorieux FH; Rauch F
    Osteoporos Int; 2016 Dec; 27(12):3607-3613. PubMed ID: 27509835
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
    Ho Duy B; Zhytnik L; Maasalu K; Kändla I; Prans E; Reimann E; Märtson A; Kõks S
    Hum Genomics; 2016 Aug; 10(1):27. PubMed ID: 27519266
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.
    Paduano F; Fischetto R; Moretti B; De Vito D; Tatullo M
    Front Endocrinol (Lausanne); 2023; 14():1254695. PubMed ID: 37929041
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
    Xi L; Zhang H; Zhang ZL
    J Bone Miner Metab; 2021 May; 39(3):416-422. PubMed ID: 33070251
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.
    Higuchi Y; Hasegawa K; Futagawa N; Yamashita M; Tanaka H; Tsukahara H
    Mol Genet Genomic Med; 2021 Jun; 9(6):e1675. PubMed ID: 33939306
    [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. 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]  

  • 14. Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.
    Hruskova L; Fijalkowski I; Van Hul W; Marik I; Mortier G; Martasek P; Mazura I
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Sep; 160(3):442-7. PubMed ID: 27132807
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
    Zhytnik L; Maasalu K; Reimann E; Prans E; Kõks S; Märtson A
    Hum Genomics; 2017 Aug; 11(1):19. PubMed ID: 28810924
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
    Symoens S; Malfait F; D'hondt S; Callewaert B; Dheedene A; Steyaert W; Bächinger HP; De Paepe A; Kayserili H; Coucke PJ
    Orphanet J Rare Dis; 2013 Sep; 8():154. PubMed ID: 24079343
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy.
    Lindahl K; Åström E; Dragomir A; Symoens S; Coucke P; Larsson S; Paschalis E; Roschger P; Gamsjaeger S; Klaushofer K; Fratzl-Zelman N; Kindmark A
    Bone; 2018 Sep; 114():268-277. PubMed ID: 29936144
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
    Stephen J; Shukla A; Dalal A; Girisha KM; Shah H; Gupta N; Kabra M; Dabadghao P; Hasegawa K; Tanaka H; Phadke SR
    Am J Med Genet A; 2014 Jun; 164A(6):1482-9. PubMed ID: 24668929
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.