Wang J - Search Results

1

A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.

Li H, Gu P, Yao RE, Wang J, Fu Q, Wang J. Li H, et al. Among authors: wang j. Fetal Pediatr Pathol. 2014 Jun;33(3):182-90. doi: 10.3109/15513815.2014.890260. Epub 2014 Mar 6. Fetal Pediatr Pathol. 2014. PMID: 24601847

2

Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.

Li Y, Wang D, Wang W, Wang J, Li H, Wang J, Wang X, Fu Q. Li Y, et al. Among authors: wang x, wang w, wang j, wang d. Genet Test Mol Biomarkers. 2009 Dec;13(6):825-30. doi: 10.1089/gtmb.2009.0083. Genet Test Mol Biomarkers. 2009. PMID: 19839753

3

A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome.

Sun H, Zhou W, Wang J, Yin L, Lu Y, Fu Q. Sun H, et al. Among authors: wang j. Pathology. 2009;41(7):661-5. doi: 10.3109/00313020903273118. Pathology. 2009. PMID: 20001346

4

A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree.

Li Y, Wang J, Li H, Wang J, Wang X, Fu Q. Li Y, et al. Among authors: wang x, wang j. Pathology. 2010 Jan;42(1):91-3. doi: 10.3109/00313020903434694. Pathology. 2010. PMID: 20025490 No abstract available.

5

Mutations in VEGFA are associated with congenital left ventricular outflow tract obstruction.

Zhao W, Wang J, Shen J, Sun K, Zhu J, Yu T, Ji W, Chen Y, Fu Q, Li F. Zhao W, et al. Among authors: wang j. Biochem Biophys Res Commun. 2010 May 28;396(2):483-8. doi: 10.1016/j.bbrc.2010.04.124. Epub 2010 Apr 24. Biochem Biophys Res Commun. 2010. PMID: 20420808

6

A novel JAG1 mutation in a patient with Alagille's syndrome.

Wang Y, Yu Y, Wang J, Tsuei SH, Zaho L, Fu Q. Wang Y, et al. Among authors: wang j. Pathology. 2010;42(5):496-8. doi: 10.3109/00313025.2010.494286. Pathology. 2010. PMID: 20632836 No abstract available.

7

Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.

Yu Y, Wang J, Huang X, Wang Y, Yang P, Li J, Tsuei SH, Shen Y, Fu Q. Yu Y, et al. Among authors: wang j, wang y. Genet Test Mol Biomarkers. 2011 Mar;15(3):137-42. doi: 10.1089/gtmb.2010.0131. Epub 2011 Jan 3. Genet Test Mol Biomarkers. 2011. PMID: 21198393

8

[Mutation of TFAP-2B gene in patients with patent ductus arteriosus].

Chen YW, Zhao W, Li F, Ji W, Fu QH, Zhang ZF, Wang J. Chen YW, et al. Among authors: wang j. Zhonghua Er Ke Za Zhi. 2010 Dec;48(12):900-4. Zhonghua Er Ke Za Zhi. 2010. PMID: 21215182 Chinese.

9

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. Pathology. 2011 Jun;43(4):322-6. doi: 10.1097/PAT.0b013e32834635a9. Pathology. 2011. PMID: 21519287

10

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: wang j. Pediatr Cardiol. 2011 Oct;32(7):958-65. doi: 10.1007/s00246-011-0024-7. Epub 2011 Jun 4. Pediatr Cardiol. 2011. PMID: 21643846

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