Gui B - Search Results

1

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.

Huang Y, Mei L, Gui B, Su W, Liang D, Wu L, Pan Q. Huang Y, et al. Among authors: gui b. Eye (Lond). 2014 Nov;28(11):1364-9. doi: 10.1038/eye.2014.196. Epub 2014 Aug 29. Eye (Lond). 2014. PMID: 25168411 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. Among authors: gui b. 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

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: gui b. Gene. 2015 Jul 1;565(1):150-4. doi: 10.1016/j.gene.2015.03.066. Epub 2015 Mar 31. Gene. 2015. PMID: 25839938

4

[Etiology and diagnosis of intellectual disability].

Yang P, Gui BH, Wu LQ. Yang P, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jun;17(6):543-8. Zhongguo Dang Dai Er Ke Za Zhi. 2015. PMID: 26108310 Free article. Chinese.

5

Morphometric analysis and developmental comparison of embryos from carriers with balanced chromosomal rearrangements in preimplantation genetic diagnosis cycles.

Gui B, Yao Z, Huang Y, Mei L, Li Y, Liu D, Liu N, Xia Y, Liang D, Wu L. Gui B, et al. Reprod Fertil Dev. 2016 Oct;28(12):1953-1963. doi: 10.1071/RD15093. Reprod Fertil Dev. 2016. PMID: 26118930

6

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. Reproduction. 2016 Apr;151(4):455-64. doi: 10.1530/REP-16-0007. Epub 2016 Jan 29. Reproduction. 2016. PMID: 26825930

7

A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening.

Gui B, Yang P, Yao Z, Li Y, Liu D, Liu N, Lu S, Liang D, Wu L. Gui B, et al. J Genet Genomics. 2016 Mar 20;43(3):155-9. doi: 10.1016/j.jgg.2016.01.003. Epub 2016 Jan 21. J Genet Genomics. 2016. PMID: 27020035 No abstract available.

8

Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.

Wei X, Ma Y, Xie B, Gui C, Shi M, Wei X, Huang Y, Fan X, Wei Q, Huang Q, Deng L, Zhang C, Deng X, Gui B, Chen Y. Wei X, et al. Among authors: gui c, gui b. BMC Med Genomics. 2024 May 21;17(1):135. doi: 10.1186/s12920-024-01908-5. BMC Med Genomics. 2024. PMID: 38773466 Free PMC article.

9

The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.

Ma Y, Gui C, Shi M, Wei L, He J, Xie B, Zheng H, Lei X, Wei X, Cheng Z, Zhou X, Chen S, Luo J, Huang Y, Gui B. Ma Y, et al. Among authors: gui b. Hum Genomics. 2024 Sep 16;18(1):103. doi: 10.1186/s40246-024-00653-1. Hum Genomics. 2024. PMID: 39285482 Free PMC article.

10

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Gui B, Song Y, Hu X, Li H, Qin Z, Su J, Li C, Fan X, Li M, Luo J, Feng Y, Song L, Chen S, Gong C, Shen Y. Gui B, et al. Gene. 2018 May 15;654:110-115. doi: 10.1016/j.gene.2018.02.047. Epub 2018 Feb 17. Gene. 2018. PMID: 29462647

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