Rajkovic A - Search Results

1

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A. Portnoi MF, et al. Among authors: rajkovic a. Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037. Hum Mol Genet. 2018. PMID: 29373757 Free PMC article. Clinical Trial.

2

NOBOX homeobox mutation causes premature ovarian failure.

Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. Qin Y, et al. Among authors: rajkovic a. Am J Hum Genet. 2007 Sep;81(3):576-81. doi: 10.1086/519496. Epub 2007 Jul 10. Am J Hum Genet. 2007. PMID: 17701902 Free PMC article.

3

Transcription factor FIGLA is mutated in patients with premature ovarian failure.

Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A. Zhao H, et al. Among authors: rajkovic a. Am J Hum Genet. 2008 Jun;82(6):1342-8. doi: 10.1016/j.ajhg.2008.04.018. Epub 2008 May 22. Am J Hum Genet. 2008. PMID: 18499083 Free PMC article.

4

Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis.

Shin YH, Choi Y, Erdin SU, Yatsenko SA, Kloc M, Yang F, Wang PJ, Meistrich ML, Rajkovic A. Shin YH, et al. Among authors: rajkovic a. PLoS Genet. 2010 Nov 4;6(11):e1001190. doi: 10.1371/journal.pgen.1001190. PLoS Genet. 2010. PMID: 21079677 Free PMC article.

5

Application of chromosomal microarray in the evaluation of abnormal prenatal findings.

Yatsenko SA, Davis S, Hendrix NW, Surti U, Emery S, Canavan T, Speer P, Hill L, Clemens M, Rajkovic A. Yatsenko SA, et al. Among authors: rajkovic a. Clin Genet. 2013 Jul;84(1):47-54. doi: 10.1111/cge.12027. Epub 2012 Nov 4. Clin Genet. 2013. PMID: 23020214

6

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA. Peterson JF, et al. Among authors: rajkovic a. Am J Med Genet A. 2014 Feb;164A(2):364-9. doi: 10.1002/ajmg.a.36238. Am J Med Genet A. 2014. PMID: 24592505

7

Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.

Mroczkowski HJ, Arnold G, Schneck FX, Rajkovic A, Yatsenko SA. Mroczkowski HJ, et al. Among authors: rajkovic a. Am J Med Genet A. 2014 Oct;164A(10):2623-6. doi: 10.1002/ajmg.a.36627. Epub 2014 Jul 29. Am J Med Genet A. 2014. PMID: 25073539

8

Recent advances of genomic testing in perinatal medicine.

Peters DG, Yatsenko SA, Surti U, Rajkovic A. Peters DG, et al. Among authors: rajkovic a. Semin Perinatol. 2015 Feb;39(1):44-54. doi: 10.1053/j.semperi.2014.10.009. Epub 2014 Nov 28. Semin Perinatol. 2015. PMID: 25444417 Free PMC article. Review.

9

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: rajkovic a. 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.

10

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up.

Yatsenko SA, Peters DG, Saller DN, Chu T, Clemens M, Rajkovic A. Yatsenko SA, et al. Among authors: rajkovic a. Genet Med. 2015 Oct;17(10):836-8. doi: 10.1038/gim.2014.197. Epub 2015 Jan 8. Genet Med. 2015. PMID: 25569438 Free PMC article.

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