Osteogenesis imperfecta in Brazilian patients-Reference-Cited by-同舟云学术

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Osteogenesis imperfecta in Brazilian patients

Published:2019-06 Issue:2 Volume:42 Page:344-350
ISSN:1678-4685
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Trancozo Maira¹,Moraes Marcos V.D.¹,Silva Dalila A.¹,Soares Jéssica A.M.²,Barbirato Clara²,Almeida Márcio G.²,Santos Lígia R.¹,Rebouças Maria R. G. O.³,Akel Jr Akel N.³,Sipolatti Valentim³,Nunes Vanda R. R.³,Errera Flavia I. V.⁴,Aguena Meire⁵,Passos-Bueno Maria R.⁵,Paula Flavia de¹^ORCID

Affiliation:

1. Universidade Federal do Espírito Santo, Brazil; Universidade Federal do Espírito Santo, Brazil

2. Universidade Federal do Espírito Santo, Brazil

3. Hospital Estadual Infantil Nossa Senhora da Glória, Brazil

4. Universidade Federal do Espírito Santo, Brazil; Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória, Brazil

5. Universidade de São Paulo, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Link

http://www.scielo.br/pdf/gmb/v42n2/1415-4757-GMB-1678-4685-GMB-2018-0043.pdf

Reference34 articles.

1. Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice;Árvai K;Sci Rep,2016

2. A novel COL1A1 gene-splicing mutation (c.1875+1G > C) in a Brazilian patient with osteogenesis imperfecta;Barbirato C;Genet Mol Res,2009

3. Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta;Barbirato C;Genet Mol Res,2015

4. Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta;Barbirato C;Genet Mol Res,2016

5. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum;Bardai G;Osteoporos Int,2016

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta;The Journal of Molecular Diagnostics;2024-09

2. The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect;Journal of Clinical Investigation;2024-06-17

3. Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort;Bone;2023-04

4. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants;Bone;2022-02

5. Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta;Journal of Clinical Medicine;2021-07-16

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