Yu T - Search Results

1

New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.

Xu Y, Wang Y, Li N, Yao R, Li G, Li J, Ding Y, Chen Y, Huang X, Chen Y, Qing Y, Yu T, Shen Y, Wang X, Shen Y, Wang J. Xu Y, et al. Among authors: yu t. Eur J Endocrinol. 2019 Sep;181(3):311-323. doi: 10.1530/EJE-19-0111. Eur J Endocrinol. 2019. PMID: 31277073

2

Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease.

Wang J, Liu H, Chen G, Tsuei SH, Yu T, Fu Q. Wang J, et al. Among authors: yu t. J Pediatr Endocrinol Metab. 2011;24(9-10):827-9. doi: 10.1515/jpem.2011.278. J Pediatr Endocrinol Metab. 2011. PMID: 22145486

3

Homozygous protein C deficiency with late onset venous thrombosis: identification and in vitro expression study of a novel Pro275Ser mutation.

Yu T, Dai J, Liu H, Wang J, Ding Q, Wang H, Wang X, Fu Q. Yu T, et al. Pathology. 2012 Jun;44(4):348-53. doi: 10.1097/PAT.0b013e328353a218. Pathology. 2012. PMID: 22531345

4

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: yu t, yu y. J Pediatr Endocrinol Metab. 2012;25(7-8):769-73. doi: 10.1515/jpem-2012-0024. J Pediatr Endocrinol Metab. 2012. PMID: 23155708

5

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. Among authors: yu l, yu t, yu y. PLoS One. 2013 Jun 6;8(6):e65676. doi: 10.1371/journal.pone.0065676. Print 2013. PLoS One. 2013. PMID: 23762408 Free PMC article.

6

The Fas/Fas ligand death receptor pathway contributes to phenylalanine-induced apoptosis in cortical neurons.

Huang X, Lu Z, Lv Z, Yu T, Yang P, Shen Y, Ding Y, Fu D, Zhang X, Fu Q, Yu Y. Huang X, et al. Among authors: yu t, yu y. PLoS One. 2013 Aug 7;8(8):e71553. doi: 10.1371/journal.pone.0071553. Print 2013. PLoS One. 2013. PMID: 23940767 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. Among authors: yu t, yu y. 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

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

Yu T, Yu Y, Wang J, Yin L, Zhou Y, Ying D, Huang R, Chen H, Wu S, Shen Y, Fu Q, Chen F. Yu T, et al. Among authors: yu y. Mol Med Rep. 2014 Apr;9(4):1191-6. doi: 10.3892/mmr.2014.1955. Epub 2014 Feb 17. Mol Med Rep. 2014. PMID: 24535484

9

A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.

Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y. Wang J, et al. Among authors: yu t. J Bone Miner Res. 2016 Apr;31(4):882-9. doi: 10.1002/jbmr.2761. Epub 2015 Dec 28. J Bone Miner Res. 2016. PMID: 26643732 Free PMC article.

10

Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.

Li N, Li J, Ding Y, Yu T, Shen Y, Fu Q, Shen Y, Huang X, Wang J. Li N, et al. Among authors: yu t. Mol Med Rep. 2016 Apr;13(4):3127-32. doi: 10.3892/mmr.2016.4906. Epub 2016 Feb 18. Mol Med Rep. 2016. PMID: 26936515

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