Xu XJ - Search Results

1

Extremely low level of serum pigment epithelium-derived factor is a special biomarker of Chinese osteogenesis imperfecta patients with SERPINF1 mutations.

Wang JY, Li LJ, Zhang Q, Liu Y, Lv F, Xu XJ, Song YW, Wang O, Jiang Y, Xia WB, Xing XP, Li M. Wang JY, et al. Among authors: xu xj. Clin Chim Acta. 2018 Mar;478:216-221. doi: 10.1016/j.cca.2017.10.032. Epub 2017 Nov 6. Clin Chim Acta. 2018. PMID: 29104038

2

Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

Liu Y, Song L, Ma D, Lv F, Xu X, Wang J, Xia W, Jiang Y, Wang O, Song Y, Xing X, Asan, Li M. Liu Y, et al. Clin Chim Acta. 2016 Oct 1;461:172-80. doi: 10.1016/j.cca.2016.07.012. Epub 2016 Jul 20. Clin Chim Acta. 2016. PMID: 27450065

3

Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients.

Liu Y, Wang J, Ma D, Lv F, Xu X, Xia W, Jiang Y, Wang O, Xing X, Zhou P, Wang J, Yu W; ASAN; Li M. Liu Y, et al. Clin Chim Acta. 2016 Nov 1;462:201-209. doi: 10.1016/j.cca.2016.09.019. Epub 2016 Sep 25. Clin Chim Acta. 2016. PMID: 27678411

4

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.

Lv F, Xu X, Song Y, Li L, Asan, Wang J, Yang H, Wang O, Jiang Y, Xia W, Xing X, Li M. Lv F, et al. Calcif Tissue Int. 2018 Mar;102(3):296-309. doi: 10.1007/s00223-017-0360-6. Epub 2017 Nov 24. Calcif Tissue Int. 2018. PMID: 29177700

5

Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients.

Lv F, Xu XJ, Song YW, Li LJ, Wang O, Jiang Y, Xia WB, Xing XP, Gao P, Li M. Lv F, et al. Among authors: xu xj. Clin Chim Acta. 2017 May;468:39-45. doi: 10.1016/j.cca.2017.02.007. Epub 2017 Feb 10. Clin Chim Acta. 2017. PMID: 28192073

6

Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.

Xu XJ, Lv F, Song YW, Li LJ, Asan, Wei XX, Zhao XL, Jiang Y, Wang O, Xing XP, Xia WB, Li M. Xu XJ, et al. Clin Chim Acta. 2019 Feb;489:21-28. doi: 10.1016/j.cca.2018.11.004. Epub 2018 Nov 5. Clin Chim Acta. 2019. PMID: 30408480

7

Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.

Lv F, Xu XJ, Wang JY, Liu Y, Asan, Wang JW, Song LJ, Song YW, Jiang Y, Wang O, Xia WB, Xing XP, Li M. Lv F, et al. Among authors: xu xj. J Hum Genet. 2016 Jun;61(6):539-45. doi: 10.1038/jhg.2016.11. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911354

8

A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family.

Lv F, Xu XJ, Wang JY, Liu Y, Jiang Y, Wang O, Xia WB, Xing XP, Li M. Lv F, et al. Among authors: xu xj. Clin Chim Acta. 2016 Jun 1;457:69-74. doi: 10.1016/j.cca.2016.04.004. Epub 2016 Apr 9. Clin Chim Acta. 2016. PMID: 27067446

9

A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta.

Xu XJ, Lv F, Liu Y, Wang JY, Song YW, Asan, Wang JW, Song LJ, Jiang Y, Wang O, Xia WB, Xing XP, Li M. Xu XJ, et al. Clin Chim Acta. 2016 Sep 1;460:33-9. doi: 10.1016/j.cca.2016.06.011. Epub 2016 Jun 14. Clin Chim Acta. 2016. PMID: 27312322

10

Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.

Xu XJ, Lv F, Liu Y, Wang JY, Ma DD, Asan, Wang JW, Song LJ, Jiang Y, Wang O, Xia WB, Xing XP, Li M. Xu XJ, et al. J Hum Genet. 2017 Feb;62(2):205-211. doi: 10.1038/jhg.2016.109. Epub 2016 Aug 25. J Hum Genet. 2017. PMID: 27762305

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