Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

27 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 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: hyon c. 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.
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K. Bashamboo A, et al. Among authors: hyon c. Am J Hum Genet. 2018 Mar 1;102(3):487-493. doi: 10.1016/j.ajhg.2018.01.021. Epub 2018 Feb 22. Am J Hum Genet. 2018. PMID: 29478779 Free PMC article.
Are human male patients with DAX1/NR0B1 mutations infertile?
Ravel C, Hyon C, Siffroi JP, Christin-Maitre S. Ravel C, et al. Among authors: hyon c. Ann Endocrinol (Paris). 2014 May;75(2):126-7. doi: 10.1016/j.ando.2014.03.003. Epub 2014 Apr 21. Ann Endocrinol (Paris). 2014. PMID: 24751136 Review.
Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.
Hyon C, Mansour-Hendili L, Chantot-Bastaraud S, Donadille B, Kerlan V, Dodé C, Jonard S, Delemer B, Gompel A, Reznik Y, Touraine P, Siffroi JP, Christin-Maitre S. Hyon C, et al. J Clin Endocrinol Metab. 2016 May;101(5):2099-104. doi: 10.1210/jc.2016-1291. Epub 2016 Mar 22. J Clin Endocrinol Metab. 2016. PMID: 27003306
27 results