Literature DB >> 26177859

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Katarina Lindahl, Eva Åström, Carl-Johan Rubin, Giedre Grigelioniene, Barbro Malmgren, Östen Ljunggren, Andreas Kindmark.   

Abstract

Entities:  

Year:  2015        PMID： 26177859      PMCID： PMC4795116          DOI： 10.1038/ejhg.2015.129

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  9 in total

1.  Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Authors:  Osama Essawi; Sofie Symoens; Maha Fannana; Mohammad Darwish; Mohammad Farraj; Andy Willaert; Tamer Essawi; Bert Callewaert; Anne De Paepe; Fransiska Malfait; Paul J Coucke
Journal:  Mol Genet Genomic Med       Date:  2017-11-18       Impact factor: 2.183

2.  Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.

Authors:  Y Liu; D Ma; F Lv; X Xu; J Wang; W Xia; Y Jiang; O Wang; X Xing; W Yu; J Wang; J Sun; L Song; Y Zhu; H Yang; J Wang; M Li
Journal:  Osteoporos Int       Date:  2017-07-19       Impact factor: 4.507

3.  A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents.

Authors:  Siraprapa Tongkobpetch; Noppachart Limpaphayom; Apiruk Sangsin; Thantrira Porntaveetus; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  Genet Mol Biol       Date:  2017-09-21       Impact factor: 1.771

4.  Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.

Authors:  Meng Ren; Jingru Shi; Jinmeng Jia; Yongli Guo; Xin Ni; Tieliu Shi
Journal:  Orphanet J Rare Dis       Date:  2020-04-29       Impact factor: 4.123

5.  Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.

Authors:  Y Ohata; S Takeyari; Y Nakano; T Kitaoka; H Nakayama; V Bizaoui; K Yamamoto; K Miyata; K Yamamoto; M Fujiwara; T Kubota; T Michigami; K Yamamoto; T Yamamoto; N Namba; K Ebina; H Yoshikawa; K Ozono
Journal:  Osteoporos Int       Date:  2019-07-29       Impact factor: 4.507

6.  Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial.

Authors:  Arantza Infante; Blanca Gener; Miguel Vázquez; Nerea Olivares; Arantza Arrieta; Gema Grau; Isabel Llano; Luis Madero; Ana Maria Bueno; Belén Sagastizabal; Daniela Gerovska; Marcos J Araúzo-Bravo; Itziar Astigarraga; Clara I Rodríguez
Journal:  Clin Transl Med       Date:  2021-01

7.  Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen.

Authors:  Peikai Chen; Zhijia Tan; Hiu Tung Shek; Jia-Nan Zhang; Yapeng Zhou; Shijie Yin; Zhongxin Dong; Jichun Xu; Anmei Qiu; Lina Dong; Bo Gao; Michael Kai Tsun To
Journal:  Front Genet       Date:  2022-01-28       Impact factor: 4.599

8.  Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.

Authors:  Yazhao Mei; Hao Zhang; Zhenlin Zhang
Journal:  Front Endocrinol (Lausanne)       Date:  2022-07-14       Impact factor: 6.055

9.  Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.

Authors:  U Lindert; M Gnoli; M Maioli; M F Bedeschi; L Sangiorgi; M Rohrbach; C Giunta
Journal:  Calcif Tissue Int       Date:  2017-11-03       Impact factor: 4.333
  9 in total

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