Fu QH - Search Results

1

Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.

Bei F, Sun JH, Yu YG, Jia J, Zheng ZJ, Fu QH, Cai W. Bei F, et al. Among authors: fu qh. Gene. 2013 Jul 25;524(2):396-400. doi: 10.1016/j.gene.2013.03.139. Epub 2013 Apr 12. Gene. 2013. PMID: 23587913

2

Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia.

Yao RE, Wang J, Geng J, Zheng Z, Yu T, Yu Y, Fu Q. Yao RE, et al. J Pediatr Endocrinol Metab. 2012;25(7-8):769-73. doi: 10.1515/jpem-2012-0024. J Pediatr Endocrinol Metab. 2012. PMID: 23155708

3

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.

Zheng Z, Yao RE, Geng J, Jin X, Shen Y, Ying D, Fu Q, Yu Y. Zheng Z, et al. Gene. 2013 Mar 10;516(2):301-6. doi: 10.1016/j.gene.2012.12.090. Epub 2013 Jan 4. Gene. 2013. PMID: 23296059

4

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

Zheng Z, Geng J, Yao RE, Li C, Ying D, Shen Y, Ying L, Yu Y, Fu Q. Zheng Z, et al. Gene. 2013 Nov 10;530(2):295-300. doi: 10.1016/j.gene.2013.08.031. Epub 2013 Aug 22. Gene. 2013. PMID: 23973728

5

A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.

Wang B, Zheng Z, Wang Z, Zhang X, Yang H, Cai H, Fu Q. Wang B, et al. Am J Med Genet A. 2016 Jan;170A(1):135-41. doi: 10.1002/ajmg.a.37391. Epub 2015 Sep 16. Am J Med Genet A. 2016. PMID: 26374086

6

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.

Zheng Z, Hong L, Huang X, Yang P, Li J, Ding Y, Yao RE, Geng J, Shen Y, Shen Y, Fu Q, Yu Y. Zheng Z, et al. PLoS One. 2013 Jun 25;8(6):e67039. doi: 10.1371/journal.pone.0067039. Print 2013. PLoS One. 2013. PMID: 23825611 Free PMC article.

7

Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.

Yang H, Wang L, Geng J, Yu T, Yao RE, Shen Y, Yin L, Ying D, Huang R, Zhou Y, Chen H, Liu L, Mo X, Shen Y, Fu Q, Yu Y. Yang H, et al. Cell Physiol Biochem. 2013;32(3):635-44. doi: 10.1159/000354467. Epub 2013 Sep 10. Cell Physiol Biochem. 2013. PMID: 24022022 Free article.

8

Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.

Yang H, Zheng Z, Cai H, Li H, Ye X, Zhang X, Wang Z, Fu Q. Yang H, et al. Hum Genet. 2016 Oct;135(10):1181-9. doi: 10.1007/s00439-016-1701-7. Epub 2016 Jul 9. Hum Genet. 2016. PMID: 27395407

9

Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.

Wang J, Yu T, Yin L, Li J, Yu L, Shen Y, Yu Y, Shen Y, Fu Q. Wang J, et al. PLoS One. 2013 Jun 6;8(6):e65676. doi: 10.1371/journal.pone.0065676. Print 2013. PLoS One. 2013. PMID: 23762408 Free PMC article.

10

A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

You G, Cai H, Jiang L, Zheng Z, Wang B, Fu Q, Wang J. You G, et al. Clin Chim Acta. 2016 Aug 1;459:73-78. doi: 10.1016/j.cca.2016.05.024. Epub 2016 May 27. Clin Chim Acta. 2016. PMID: 27241686 No abstract available.

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