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 *

149 related articles for article (PubMed ID: 35581901)

  • 1. Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.
    Cruz-Centeno N; Saenz-Maisonet JF; López-Dones PM; Santiago-Cornier A; Ortiz-Justiniano VN
    Am J Case Rep; 2022 May; 23():e935526. PubMed ID: 35581901
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.
    Basel D; Steiner RD
    Genet Med; 2009 Jun; 11(6):375-85. PubMed ID: 19533842
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.
    Sałacińska K; Michałus I; Pinkier I; Rutkowska L; Chlebna-Sokół D; Jakubowska-Pietkiewicz E; Kępczyński Ł; Salachna D; Gach A
    Mol Genet Genomic Med; 2022 Aug; 10(8):e1996. PubMed ID: 35748117
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model.
    Huang H; Liu J; Zhang G
    Clin Chim Acta; 2021 Jun; 517():133-138. PubMed ID: 33705765
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta.
    Rauch F; Lalic L; Roughley P; Glorieux FH
    J Bone Miner Res; 2010 Jun; 25(6):1367-74. PubMed ID: 19929435
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.
    Lang SH; Gallo RA; Forghani I
    Am J Med Genet A; 2022 Jun; 188(6):1885-1889. PubMed ID: 35243755
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
    Li LJ; Lyu F; Song YW; Wang O; Jiang Y; Xia WB; Xing XP; Li M
    Chin Med J (Engl); 2019 Jan; 132(2):145-153. PubMed ID: 30614853
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta.
    Pallos D; Hart PS; Cortelli JR; Vian S; Wright JT; Korkko J; Brunoni D; Hart TC
    Arch Oral Biol; 2001 May; 46(5):459-70. PubMed ID: 11286811
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
    Pollitt RC; Saraff V; Dalton A; Webb EA; Shaw NJ; Sobey GJ; Mughal MZ; Hobson E; Ali F; Bishop NJ; Arundel P; Högler W; Balasubramanian M
    Am J Med Genet A; 2016 Dec; 170(12):3150-3156. PubMed ID: 27576954
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Complete COL1A1 allele deletions in osteogenesis imperfecta.
    van Dijk FS; Huizer M; Kariminejad A; Marcelis CL; Plomp AS; Terhal PA; Meijers-Heijboer H; Weiss MM; van Rijn RR; Cobben JM; Pals G
    Genet Med; 2010 Nov; 12(11):736-41. PubMed ID: 21113976
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang].
    Luo YF; Dilihuma J; Sun GH; Reyilanmu B; Liang L; Du XY; Mireguli M
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):135-139. PubMed ID: 32102151
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.