Teng Y - Search Results

1

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.

Liu Y, Chen M, Liu J, Mao A, Teng Y, Yan H, Zhu H, Li Z, Liang D, Wu L. Liu Y, et al. Among authors: teng y. Clin Chem. 2022 Jul 3;68(7):927-939. doi: 10.1093/clinchem/hvac046. Clin Chem. 2022. PMID: 35714169

2

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.

Linpeng S, Liu J, Pan J, Cao Y, Teng Y, Liang D, Li Z, Wu L. Linpeng S, et al. Among authors: teng y. Biomed Res Int. 2018 Nov 15;2018:4032543. doi: 10.1155/2018/4032543. eCollection 2018. Biomed Res Int. 2018. PMID: 30581852 Free PMC article.

3

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series.

Long X, Li Z, Huang Y, Zhang L, Lv W, Teng Y, Linpeng S, Liang D, Wu L. Long X, et al. Among authors: teng y. Medicine (Baltimore). 2019 May;98(20):e15692. doi: 10.1097/MD.0000000000015692. Medicine (Baltimore). 2019. PMID: 31096510 Free PMC article.

4

[Prenatal diagnosis for 30 women carrying a FMR1 mutation].

Huang W, Xue J, Kang H, Guan X, Teng Y, Wu L, Duan R. Huang W, et al. Among authors: teng y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Sep 10;36(9):866-869. doi: 10.3760/cma.j.issn.1003-9406.2019.09.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31515777 Chinese.

5

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Liu Y, Xue J, Li Z, Linpeng S, Tan H, Teng Y, Liang D, Wu L. Liu Y, et al. Among authors: teng y. Mol Genet Genomic Med. 2020 Mar;8(3):e1127. doi: 10.1002/mgg3.1127. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943912 Free PMC article.

6

Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome.

Jiang X, Teng Y, Chen X, Liang N, Li Z, Liang D, Wu L. Jiang X, et al. Among authors: teng y. Clin Chim Acta. 2020 Jul;506:180-186. doi: 10.1016/j.cca.2020.03.036. Epub 2020 Mar 27. Clin Chim Acta. 2020. PMID: 32229106

7

Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.

Pan J, Zhang C, Teng Y, Zeng S, Chen S, Liang D, Li Z, Wu L. Pan J, et al. Among authors: teng y. Ann Lab Med. 2021 Jan;41(1):101-107. doi: 10.3343/alm.2021.41.1.101. Epub 2020 Aug 25. Ann Lab Med. 2021. PMID: 32829585 Free PMC article.

8

Biochemical and genetic characteristics of 40 neonates with carnitine deficiency.

Zhou X, Teng Y, Lin-Peng S, Li Z, Wu L, Liang D. Zhou X, et al. Among authors: teng y. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2020 Oct 28;45(10):1164-1171. doi: 10.11817/j.issn.1672-7347.2020.190241. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2020. PMID: 33268576 Free article. Chinese, English.

9

Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.

Chen X, Yin W, Chen S, Zhang W, Li H, Kuang H, Zhou M, Teng Y, Zhang J, Shen G, Liang D, Li Z, Hu B, Wu L. Chen X, et al. Among authors: teng y. Hum Genet. 2021 May;140(5):791-803. doi: 10.1007/s00439-020-02243-2. Epub 2021 Jan 4. Hum Genet. 2021. PMID: 33392778

10

Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.

Zhang L, Pan L, Teng Y, Liang D, Li Z, Wu L. Zhang L, et al. Among authors: teng y. Clin Genet. 2021 Aug;100(2):219-226. doi: 10.1111/cge.13976. Epub 2021 Jun 9. Clin Genet. 2021. PMID: 33942288

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