Zhang F - Search Results

1

Whole exome sequencing identified a rare WT1 loss-of-function variant in a non-syndromic POI patient.

Wang Y, Chen Q, Zhang F, Yang X, Shang L, Ren S, Pan Y, Zhou Z, Li G, Fang Y, Jin L, Wu Y, Zhang X. Wang Y, et al. Among authors: zhang f, zhang x. Mol Genet Genomic Med. 2022 Jan;10(1):e1820. doi: 10.1002/mgg3.1820. Epub 2021 Nov 29. Mol Genet Genomic Med. 2022. PMID: 34845858 Free PMC article.

2

Assessing genome-wide copy number variation in the Han Chinese population.

Lu J, Lou H, Fu R, Lu D, Zhang F, Wu Z, Zhang X, Li C, Fang B, Pu F, Wei J, Wei Q, Zhang C, Wang X, Lu Y, Yan S, Yang Y, Jin L, Xu S. Lu J, et al. Among authors: zhang c, zhang f, zhang x. J Med Genet. 2017 Oct;54(10):685-692. doi: 10.1136/jmedgenet-2017-104613. Epub 2017 Jul 13. J Med Genet. 2017. PMID: 28705883

3

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.

Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group; Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics; Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. Liu J, et al. Among authors: zhang l, zhang b, zhang s, zhang f, zhang j, zhang x. Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14. Genet Med. 2019. PMID: 30636772 Free PMC article.

4

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Yang N, Wu N, Dong S, Zhang L, Zhao Y, Chen W, Du R, Song C, Ren X, Liu J, Pehlivan D, Liu Z, Rao J, Wang C, Zhao S, Breman AM, Xue H, Sun H, Shen J, Zhang S, Posey JE, Xu H, Jin L, Zhang J, Liu P, Sanna-Cherchi S, Qiu G, Wu Z, Lupski JR, Zhang F. Yang N, et al. Among authors: zhang l, zhang s, zhang f, zhang j. Kidney Int. 2020 Oct;98(4):1020-1030. doi: 10.1016/j.kint.2020.04.045. Epub 2020 May 22. Kidney Int. 2020. PMID: 32450157 Free PMC article.

5

Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.

Chen Q, Ke H, Luo X, Wang L, Wu Y, Tang S, Li J, Jin L, Zhang F, Qin Y, Chen X. Chen Q, et al. Among authors: zhang f. Hum Mol Genet. 2020 Sep 29;29(16):2698-2707. doi: 10.1093/hmg/ddaa153. Hum Mol Genet. 2020. PMID: 32716490

6

DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway.

Liu L, Liu W, Shi Y, Li L, Gao Y, Lei Y, Finnell R, Zhang T, Zhang F, Jin L, Li H, Tao W, Wang H. Liu L, et al. Among authors: zhang f, zhang t. J Genet Genomics. 2020 Jun 20;47(6):301-310. doi: 10.1016/j.jgg.2020.06.003. Epub 2020 Jun 27. J Genet Genomics. 2020. PMID: 32900645

7

A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice.

Pan Y, Yang X, Zhang F, Chen S, Zhou Z, Yin H, Ma H, Shang L, Yang J, Li G, Wang Y, Jin L, Shi Q, Wu Y. Pan Y, et al. Among authors: zhang f. Mol Genet Genomics. 2021 Jan;296(1):103-112. doi: 10.1007/s00438-020-01730-5. Epub 2020 Oct 6. Mol Genet Genomics. 2021. PMID: 33025164

8

"Response to the letter to the editor "Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency"".

Yang X, Zhang F, Shi Q, Wu Y. Yang X, et al. Among authors: zhang f. Hum Genet. 2021 Apr;140(4):695-697. doi: 10.1007/s00439-020-02233-4. Epub 2020 Nov 11. Hum Genet. 2021. PMID: 33175223 No abstract available.

9

Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.

Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F. Liu C, et al. Among authors: zhang f, zhang w. Am J Hum Genet. 2021 Feb 4;108(2):309-323. doi: 10.1016/j.ajhg.2021.01.002. Epub 2021 Jan 19. Am J Hum Genet. 2021. PMID: 33472045 Free PMC article.

10

Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.

Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, Gao Y, Wu H, Lv M, Gu Y, Lu S, Liu C, Tian S, Meng L, Wang W, Tan C, Nie H, Li D, Zhang H, Gong F, Hu L, Lu G, Xu W, Lin G, Zhang F, Cao Y, Tan YQ. Tu C, et al. Among authors: zhang q, zhang f, zhang h. Am J Hum Genet. 2021 Aug 5;108(8):1466-1477. doi: 10.1016/j.ajhg.2021.06.010. Epub 2021 Jul 7. Am J Hum Genet. 2021. PMID: 34237282 Free PMC article.

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