Luo F - Search Results

1

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.

Wang Q, Zhang J, Wang H, Feng Q, Luo F, Xie J. Wang Q, et al. Among authors: luo f. J Hum Genet. 2019 Nov;64(11):1067-1073. doi: 10.1038/s10038-019-0651-z. Epub 2019 Aug 19. J Hum Genet. 2019. PMID: 31427716 Free PMC article.

2

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.

Wang Q, Yang J, Liu Y, Li X, Luo F, Xie J. Wang Q, et al. Among authors: luo f. BMC Med Genet. 2018 Nov 6;19(1):193. doi: 10.1186/s12881-018-0707-5. BMC Med Genet. 2018. PMID: 30400883 Free PMC article.

3

[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].

Wang H, Xie J, Wu W, Xu Z, Luo F, Geng Q. Wang H, et al. Among authors: luo f. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):322-5. doi: 10.3760/cma.j.issn.1003-9406.2013.03.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23744324 Chinese.

4

[Genetic analysis for a family with Cockayne syndrome].

Chen L, Yu S, Wu W, Geng Q, Luo F, Xie J. Chen L, et al. Among authors: luo f. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):285-8. doi: 10.3760/cma.j.issn.1003-9406.2014.03.006. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 24928003 Chinese.

5

Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.

Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Wu W, et al. Among authors: luo f. Eur J Med Genet. 2017 Jul;60(7):369-373. doi: 10.1016/j.ejmg.2017.04.008. Epub 2017 Apr 15. Eur J Med Genet. 2017. PMID: 28419882

6

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.

Wang Q, Geng Q, Zhou Q, Luo F, Li P, Xie J. Wang Q, et al. Among authors: luo f. Mol Cytogenet. 2017 Dec 19;10:46. doi: 10.1186/s13039-017-0347-z. eCollection 2017. Mol Cytogenet. 2017. PMID: 29270226 Free PMC article.

7

Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.

Hao Y, Liu Y, Yang J, Li X, Luo F, Geng Q, Li S, Li P, Wu W, Xie J. Hao Y, et al. Among authors: luo f. Front Genet. 2022 Aug 31;13:961196. doi: 10.3389/fgene.2022.961196. eCollection 2022. Front Genet. 2022. PMID: 36118903 Free PMC article.

8

[The prenatal genetic diagnosis of a family with complete androgen insensitivity syndrome].

Wu WQ, Liu Y, Geng Q, Luo FW, Chen WB, Yuan H, Xie JS. Wu WQ, et al. Among authors: luo fw. Zhonghua Yi Xue Za Zhi. 2016 Dec 20;96(47):3793-3796. doi: 10.3760/cma.j.issn.0376-2491.2016.47.005. Zhonghua Yi Xue Za Zhi. 2016. PMID: 28057092 Chinese.

9

[Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus].

Geng Q, Luo FW, Wu WQ, Xu ZY, Wang L, Wang Q, Xie JS. Geng Q, et al. Zhonghua Nan Ke Xue. 2013 Jul;19(7):642-6. Zhonghua Nan Ke Xue. 2013. PMID: 23926684 Chinese.

10

[One case of 2q37 deletion syndrome: clinical and genetic diagnosis].

Geng Q, Xie JS, Wu WQ, Luo FW, Chen WB. Geng Q, et al. Zhonghua Er Ke Za Zhi. 2013 Dec;51(12):934-7. Zhonghua Er Ke Za Zhi. 2013. PMID: 24495766 Chinese.

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