Xiao JF - Search Results

1

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family.

Liu HY, Xiao JF, Huang J, Wang Y, Wu D, Li T, Wang HD, Guo LJ, Guo QN, Xiao H, Lyu X, Yu ZH. Liu HY, et al. Among authors: xiao h, xiao jf. Chin Med J (Engl). 2017 Jan 5;130(1):104-107. doi: 10.4103/0366-6999.196568. Chin Med J (Engl). 2017. PMID: 28051032 Free PMC article. No abstract available.

2

[Genetic study of a Chinese pedigree affected with pachyonychia congenita].

Zhao F, Xing B, Xiao J, Zhao X. Zhao F, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):985-988. doi: 10.3760/cma.j.issn.1003-9406.2019.10.008. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31598941 Chinese.

3

Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene.

Xiao Y, Liu Y, Yang K, Yang Y, Zhou X, Lu C, Xiao J, Liu F, Zhang X. Xiao Y, et al. Clin Chim Acta. 2015 Jan 15;439:58-60. doi: 10.1016/j.cca.2014.09.034. Epub 2014 Oct 7. Clin Chim Acta. 2015. PMID: 25304743 No abstract available.

4

[Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta].

Zhao X, Xiao J, Wang H, Ren X, Gao J, Wu Y, Lu C, Zhang X. Zhao X, et al. Zhonghua Yi Xue Za Zhi. 2015 Nov 17;95(43):3484-9. Zhonghua Yi Xue Za Zhi. 2015. PMID: 26813269 Chinese.

5

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.

Li L, Mao B, Li S, Xiao J, Wang H, Zhang J, Ren X, Wang Y, Wu Y, Cao Y, Lu C, Gao J, You Y, Zhao F, Geng X, Xiao Y, Jiang C, Ye Y, Yang T, Zhao X, Zhang X. Li L, et al. Hum Mutat. 2019 May;40(5):588-600. doi: 10.1002/humu.23718. Epub 2019 Feb 25. Hum Mutat. 2019. PMID: 30715774

6

Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.

Mao B, Zhang J, You Y, Xiao J, Zhao X. Mao B, et al. J Dermatol. 2018 Feb;45(2):e45-e46. doi: 10.1111/1346-8138.14087. Epub 2017 Oct 17. J Dermatol. 2018. PMID: 29044727 No abstract available.

7

[Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing].

Lu C, Wu W, Xiao J, Meng Y, Zhang S, Zhang X. Lu C, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):301-4. doi: 10.3760/cma.j.issn.1003-9406.2013.03.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23744319 Chinese.

8

[Analysis of gross deletions of COL1A1/2 genes in Chinese families affected with osteogenesis imperfecta].

Wang H, Zhao X, Ren X, Xiao J, Zhang X. Wang H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):431-4. doi: 10.3760/cma.j.issn.1003-9406.2016.04.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27454992 Chinese.

9

[Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].

Lu CX, Gao X, Wang JW, Zhang M, Zhu HW, Sun J, Xiao JF, Yang W, Zhao XL, Qi Z, Zhang X. Lu CX, et al. Among authors: xiao jf. Zhonghua Yi Xue Za Zhi. 2011 Nov 15;91(42):2971-6. Zhonghua Yi Xue Za Zhi. 2011. PMID: 22333022 Chinese.

10

Longitudinal dynamic MRI radiomic models for early prediction of prognosis in locally advanced cervical cancer treated with concurrent chemoradiotherapy.

Cai C, Xiao JF, Cai R, Ou D, Wang YW, Chen JY, Xu HP. Cai C, et al. Among authors: xiao jf. Radiat Oncol. 2024 Dec 21;19(1):181. doi: 10.1186/s13014-024-02574-8. Radiat Oncol. 2024. PMID: 39707484 Free PMC article.

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