Jiang H - Search Results

1

MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.

Desai S, Wood-Trageser M, Matic J, Chipkin J, Jiang H, Bachelot A, Dulon J, Sala C, Barbieri C, Cocca M, Toniolo D, Touraine P, Witchel S, Rajkovic A. Desai S, et al. Among authors: jiang h. J Clin Endocrinol Metab. 2017 Feb 1;102(2):576-582. doi: 10.1210/jc.2016-2565. J Clin Endocrinol Metab. 2017. PMID: 27802094 Free PMC article.

2

Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure.

Katari S, Wood-Trageser MA, Jiang H, Kalynchuk E, Muzumdar R, Yatsenko SA, Rajkovic A. Katari S, et al. Among authors: jiang h. J Clin Endocrinol Metab. 2015 Jun;100(6):2154-7. doi: 10.1210/jc.2015-1401. Epub 2015 Apr 15. J Clin Endocrinol Metab. 2015. PMID: 25875778 Free PMC article.

3

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A. Wood-Trageser MA, et al. Among authors: jiang h. Am J Hum Genet. 2014 Dec 4;95(6):754-62. doi: 10.1016/j.ajhg.2014.11.002. Am J Hum Genet. 2014. PMID: 25480036 Free PMC article.

4

Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.

Yang X, Touraine P, Desai S, Humphreys G, Jiang H, Yatsenko A, Rajkovic A. Yang X, et al. Among authors: jiang h. J Assist Reprod Genet. 2019 Jan;36(1):39-45. doi: 10.1007/s10815-018-1349-4. Epub 2018 Nov 7. J Assist Reprod Genet. 2019. PMID: 30406445 Free PMC article.

5

A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.

Yatsenko SA, Wood-Trageser M, Chu T, Jiang H, Rajkovic A. Yatsenko SA, et al. Among authors: jiang h. Genet Med. 2019 Oct;21(10):2275-2284. doi: 10.1038/s41436-019-0505-2. Epub 2019 Apr 5. Genet Med. 2019. PMID: 30948856 Free article.

6

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A. AlAsiri S, et al. Among authors: jiang h. J Clin Invest. 2015 Jan;125(1):258-62. doi: 10.1172/JCI78473. Epub 2014 Dec 1. J Clin Invest. 2015. PMID: 25437880 Free PMC article.

7

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.

Ren Y, Diao F, Katari S, Yatsenko S, Jiang H, Wood-Trageser MA, Rajkovic A. Ren Y, et al. Among authors: jiang h. Mol Genet Genomic Med. 2018 Mar;6(2):276-281. doi: 10.1002/mgg3.345. Epub 2018 Jan 24. Mol Genet Genomic Med. 2018. PMID: 29363275 Free PMC article.

8

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

Gurbuz F, Desai S, Diao F, Turkkahraman D, Wranitz F, Wood-Trageser M, Shin YH, Kotan LD, Jiang H, Witchel S, Gurtunca N, Yatsenko S, Mysliwec D, Topaloglu K, Rajkovic A. Gurbuz F, et al. Among authors: jiang h. Clin Genet. 2018 Apr;93(4):853-859. doi: 10.1111/cge.13183. Epub 2018 Jan 24. Clin Genet. 2018. PMID: 29178422

9

A novel homozygous frame-shift variant in the LHCGR gene is associated with primary ovarian insufficiency in a Pakistani family.

Zielen AC, Khan MJ, Pollock N, Jiang H, Ahmed J, Nazli R, Jabeen M, Yatsenko A, Rajkovic A. Zielen AC, et al. Among authors: jiang h. Clin Genet. 2018 Oct;94(3-4):396-397. doi: 10.1111/cge.13406. Epub 2018 Jul 17. Clin Genet. 2018. PMID: 30016538 Free PMC article.

10

Importance of complete phenotyping in prenatal whole exome sequencing.

Aarabi M, Sniezek O, Jiang H, Saller DN, Bellissimo D, Yatsenko SA, Rajkovic A. Aarabi M, et al. Among authors: jiang h. Hum Genet. 2018 Feb;137(2):175-181. doi: 10.1007/s00439-017-1860-1. Epub 2018 Feb 1. Hum Genet. 2018. PMID: 29392406

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