Meng LL - Search Results

1

Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility.

Hu TY, Zhang H, Meng LL, Yuan SM, Tu CF, Du J, Lu GX, Lin G, Nie HC, Tan YQ. Hu TY, et al. Among authors: meng ll. Hum Mutat. 2021 Jan;42(1):31-36. doi: 10.1002/humu.24138. Epub 2020 Nov 15. Hum Mutat. 2021. PMID: 33169450

2

Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias.

Yuan S, Meng L, Zhang Y, Tu C, Du J, Li W, Liang P, Lu G, Tan YQ. Yuan S, et al. Steroids. 2017 Sep;125:61-66. doi: 10.1016/j.steroids.2017.06.010. Epub 2017 Jun 27. Steroids. 2017. PMID: 28663096

3

[Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene].

Meng L, Du J, Li W, Lu G, Tan Y. Meng L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):504-508. doi: 10.3760/cma.j.issn.1003-9406.2017.04.008. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28777847 Chinese.

4

DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.

He WB, Tu CF, Liu Q, Meng LL, Yuan SM, Luo AX, He FS, Shen J, Li W, Du J, Zhong CG, Lu GX, Lin G, Fan LQ, Tan YQ. He WB, et al. Among authors: meng ll. J Med Genet. 2018 Mar;55(3):198-204. doi: 10.1136/jmedgenet-2017-104992. Epub 2018 Jan 13. J Med Genet. 2018. PMID: 29331980

5

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Li H, Du J, Li W, Cheng D, He W, Yi D, Xiong B, Yuan S, Tu C, Meng L, Luo A, Lin G, Lu G, Tan YQ. Li H, et al. Mol Cytogenet. 2018 Feb 5;11:15. doi: 10.1186/s13039-018-0365-5. eCollection 2018. Mol Cytogenet. 2018. PMID: 29441129 Free PMC article.

6

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients.

Yuan SM, Zhang YN, Du J, Li W, Tu CF, Meng LL, Lin G, Lu GX, Tan YQ. Yuan SM, et al. Among authors: meng ll. Asian J Androl. 2018 Sep-Oct;20(5):473-478. doi: 10.4103/aja.aja_17_18. Asian J Androl. 2018. PMID: 29785970 Free PMC article.

7

Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect.

Meng L, Tu C, Lu G, Lin G, Tan Y. Meng L, et al. Sci China Life Sci. 2019 Jan;62(1):144-147. doi: 10.1007/s11427-018-9329-3. Epub 2018 Jun 28. Sci China Life Sci. 2019. PMID: 29961235 No abstract available.

8

Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China.

Meng LL, Yuan SM, Tu CF, Lin G, Lu GX, Tan YQ. Meng LL, et al. Ann Hematol. 2019 Jan;98(1):223-226. doi: 10.1007/s00277-018-3417-3. Epub 2018 Jul 1. Ann Hematol. 2019. PMID: 29961904 No abstract available.

9

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.

Tan YQ, Tu C, Meng L, Yuan S, Sjaarda C, Luo A, Du J, Li W, Gong F, Zhong C, Deng HX, Lu G, Liang P, Lin G. Tan YQ, et al. Genet Med. 2019 May;21(5):1209-1217. doi: 10.1038/gim.2017.130. Epub 2017 Aug 24. Genet Med. 2019. PMID: 31048812 Free article.

10

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.

Wang W, Tu C, Nie H, Meng L, Li Y, Yuan S, Zhang Q, Du J, Wang J, Gong F, Fan L, Lu GX, Lin G, Tan YQ. Wang W, et al. J Med Genet. 2019 Nov;56(11):750-757. doi: 10.1136/jmedgenet-2019-106031. Epub 2019 Aug 14. J Med Genet. 2019. PMID: 31413122 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

143 results

Search Page

Filters