Ma R - Search Results

1

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Peng Y, Ma R, Zhou Y, Xia Y, Wen J, Zhang Y, Guo R, Li H, Pan Q, Zhang R, Tang C, Liang D, Wu L. Peng Y, et al. Among authors: ma r. Mol Cytogenet. 2015 Nov 9;8:88. doi: 10.1186/s13039-015-0191-y. eCollection 2015. Mol Cytogenet. 2015. PMID: 26557157 Free PMC article.

2

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.

Ma R, Peng Y, Zhang Y, Xia Y, Tang G, Chang J, Guo R, Gui B, Huang Y, Chen C, Liang D, Wu L. Ma R, et al. Mol Cytogenet. 2015 Feb 6;8:10. doi: 10.1186/s13039-015-0111-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 25774219 Free PMC article.

3

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

Guo R, Zhu G, Zhu H, Ma R, Peng Y, Liang D, Wu L. Guo R, et al. Among authors: ma r. J Hum Genet. 2015 Aug;60(8):435-42. doi: 10.1038/jhg.2015.43. Epub 2015 May 14. J Hum Genet. 2015. PMID: 25972034

4

Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

Chang J, Zhao L, Chen C, Peng Y, Xia Y, Tang G, Bai T, Zhang Y, Ma R, Guo R, Mei L, Liang D, Cao Q, Wu L. Chang J, et al. Among authors: ma r. Gene. 2015 Sep 10;569(1):46-50. doi: 10.1016/j.gene.2015.04.090. Epub 2015 Jun 20. Gene. 2015. PMID: 26099517

5

[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. Among authors: ma r. 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.

6

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.

Ma R, Deng L, Xia Y, Wei X, Cao Y, Guo R, Zhang R, Guo J, Liang D, Wu L. Ma R, et al. Sci Rep. 2017 Mar 21;7:44446. doi: 10.1038/srep44446. Sci Rep. 2017. PMID: 28322228 Free PMC article.

7

Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.

Huang Y, Mei L, Pan Q, Tan H, Quan Y, Gui B, Chang J, Ma R, Peng Y, Yang P, Liang D, Wu L. Huang Y, et al. Among authors: ma r. Gene. 2015 Jul 1;565(1):150-4. doi: 10.1016/j.gene.2015.03.066. Epub 2015 Mar 31. Gene. 2015. PMID: 25839938

8

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Zhang Y, Li H, Ma R, Mei L, Wei X, Liang D, Wu L. Zhang Y, et al. Among authors: ma r. Clin Chim Acta. 2016 Jan 30;453:75-9. doi: 10.1016/j.cca.2015.12.003. Epub 2015 Dec 4. Clin Chim Acta. 2016. PMID: 26656312

9

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers.

Gui B, Yao Z, Li Y, Liu D, Liu N, Xia Y, Huang Y, Mei L, Ma R, Lu S, Liang D, Wu L. Gui B, et al. Among authors: ma r. Reproduction. 2016 Apr;151(4):455-64. doi: 10.1530/REP-16-0007. Epub 2016 Jan 29. Reproduction. 2016. PMID: 26825930

10

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L. Jiang C, et al. Among authors: ma r. Clin Chim Acta. 2017 Jan;464:24-29. doi: 10.1016/j.cca.2016.10.029. Epub 2016 Oct 28. Clin Chim Acta. 2017. PMID: 27983999

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