Fu Q - Search Results

1

Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA-IVS in an Unselected Chinese Cohort.

He X, Zhang X, Jing H, Zhang X, Gao M, Chen H, Geng J, Zheng Z, Fu Q, Zhu Z, Zheng J. He X, et al. Among authors: fu q. Pediatr Cardiol. 2019 Apr;40(4):762-767. doi: 10.1007/s00246-019-02062-x. Epub 2019 Mar 13. Pediatr Cardiol. 2019. PMID: 30868185

2

Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot.

Wang J, Lu Y, Chen H, Yin M, Yu T, Fu Q. Wang J, et al. Among authors: fu q. Pathology. 2011 Jun;43(4):322-6. doi: 10.1097/PAT.0b013e32834635a9. Pathology. 2011. PMID: 21519287

3

Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.

Chen YW, Zhao W, Zhang ZF, Fu Q, Shen J, Zhang Z, Ji W, Wang J, Li F. Chen YW, et al. Among authors: fu q. Pediatr Cardiol. 2011 Oct;32(7):958-65. doi: 10.1007/s00246-011-0024-7. Epub 2011 Jun 4. Pediatr Cardiol. 2011. PMID: 21643846

4

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.

Xu YJ, Wang J, Xu R, Zhao PJ, Wang XK, Sun HJ, Bao LM, Shen J, Fu QH, Li F, Sun K. Xu YJ, et al. BMC Med Genet. 2011 Dec 21;12:169. doi: 10.1186/1471-2350-12-169. BMC Med Genet. 2011. PMID: 22185286 Free PMC article.

5

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. Among authors: fu q. J Pediatr Endocrinol Metab. 2012;25(7-8):769-73. doi: 10.1515/jpem-2012-0024. J Pediatr Endocrinol Metab. 2012. PMID: 23155708

6

Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.

Geng J, Wang J, Yao RE, Liu XQ, Fu QH. Geng J, et al. World J Pediatr. 2013 May;9(2):158-62. doi: 10.1007/s12519-012-0388-7. Epub 2012 Dec 29. World J Pediatr. 2013. PMID: 23275100

7

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. Among authors: fu q. Gene. 2013 Mar 10;516(2):301-6. doi: 10.1016/j.gene.2012.12.090. Epub 2013 Jan 4. Gene. 2013. PMID: 23296059

8

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. Gene. 2013 Jul 25;524(2):396-400. doi: 10.1016/j.gene.2013.03.139. Epub 2013 Apr 12. Gene. 2013. PMID: 23587913

9

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. Among authors: fu q. PLoS One. 2013 Jun 25;8(6):e67039. doi: 10.1371/journal.pone.0067039. Print 2013. PLoS One. 2013. PMID: 23825611 Free PMC article.

10

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. Among authors: fu q. Gene. 2013 Nov 10;530(2):295-300. doi: 10.1016/j.gene.2013.08.031. Epub 2013 Aug 22. Gene. 2013. PMID: 23973728

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