Peng Y - Search Results

1

[Identification of a de novo interstitial 21q22.12q22.13 deletion in a patient with intellectual disability].

Peng Y, Jia Z, Pang J, Hu J, Xi H, Wang H. Peng Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):704-707. doi: 10.3760/cma.j.issn.1003-9406.2019.07.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302916 Chinese.

2

Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing.

Liang D, Lv W, Wang H, Xu L, Liu J, Li H, Hu L, Peng Y, Wu L. Liang D, et al. Among authors: peng y. Prenat Diagn. 2013 May;33(5):409-15. doi: 10.1002/pd.4033. Epub 2013 Jan 9. Prenat Diagn. 2013. PMID: 23299662

3

[Phenotype-genotype correlation analysis of 12 cases with Angelman/Prader-Willi syndrome].

Chen C, Peng Y, Xia Y, Li H, Zhu H, Pan Q, Yin F, Wu L. Chen C, et al. Among authors: peng y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):708-12. doi: 10.3760/cma.j.issn.1003-9406.2014.06.006. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 25449072 Chinese.

4

[Genetic diagnosis and analysis for two cases of ring chromosome 22].

Peng Y, Tang G, Zhang R, Zhang Y, Xia Y, Ma R, Guo R, Wu L. Peng Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):494-7. doi: 10.3760/cma.j.issn.1003-9406.2016.04.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27455005 Chinese.

5

Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.

Zhang Y, Li H, Pang J, Peng Y, Shu L, Wang H. Zhang Y, et al. Among authors: peng y. Clin Chim Acta. 2019 Apr;491:15-18. doi: 10.1016/j.cca.2019.01.007. Epub 2019 Jan 10. Clin Chim Acta. 2019. PMID: 30639237

6

[Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome].

Jiang C, Pan N, Lyu W, Peng Y, Liu J, Guo R, Chang J, Liang D, Wu L. Jiang C, et al. Among authors: peng y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):340-343. doi: 10.3760/cma.j.issn.1003-9406.2019.04.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30950021 Chinese.

7

[Genetic analysis of a child with mental retardation and hypospadia].

Ma N, Pang J, Peng Y, Jia Z, Xi H, Liu G, Zhou Y, Wang H. Ma N, et al. Among authors: peng y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1199-1202. doi: 10.3760/cma.j.issn.1003-9406.2019.12.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813147 Chinese.

8

[Analysis on the Genotype of 5018 Cases of Thalassemia in Hunan Area].

Liu Q, Jia ZJ, Xi H, Liu J, Peng Y, Wang H. Liu Q, et al. Among authors: peng y. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019 Dec;27(6):1938-1942. doi: 10.19746/j.cnki.issn.1009-2137.2019.06.037. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019. PMID: 31839063 Chinese.

9

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.

Huang Y, Mao X, van Jaarsveld RH, Shu L, Terhal PA, Jia Z, Xi H, Peng Y, Yan H, Yuan S, Li Q, Wang H, Bellen HJ. Huang Y, et al. Among authors: peng y. Hum Mol Genet. 2020 Jun 3;29(9):1537-1546. doi: 10.1093/hmg/ddaa078. Hum Mol Genet. 2020. PMID: 32338762 Free PMC article.

10

Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.

Peng Y, Pang J, Hu J, Jia Z, Xi H, Ma N, Yang S, Liu J, Huang X, Tang C, Wang H. Peng Y, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1312. doi: 10.1002/mgg3.1312. Epub 2020 Jun 4. Mol Genet Genomic Med. 2020. PMID: 32500674 Free PMC article.

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