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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. 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.
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Schwartz M, Sternberg D, Whalen S, Afenjar A, Isapof A, Chabrol B, Portnoï MF, Heide S, Keren B, Chantot-Bastaraud S, Siffroi JP. Schwartz M, et al. Among authors: portnoi mf. Am J Med Genet A. 2018 Jan;176(1):151-155. doi: 10.1002/ajmg.a.38515. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130637
Genes and premature ovarian failure.
Christin-Maitre S, Vasseur C, Portnoï MF, Bouchard P. Christin-Maitre S, et al. Among authors: portnoi mf. Mol Cell Endocrinol. 1998 Oct 25;145(1-2):75-80. doi: 10.1016/s0303-7207(98)00172-5. Mol Cell Endocrinol. 1998. PMID: 9922102 Review.
A 14q distal chromoanagenesis elucidated by whole genome sequencing.
Ader F, Heide S, Marzin P, Afenjar A, Diguet F, Chantot Bastaraud S, Rollat-Farnier PA, Sanlaville D, Portnoï MF, Siffroi JP, Schluth-Bolard C. Ader F, et al. Among authors: portnoi mf. Eur J Med Genet. 2020 Apr;63(4):103776. doi: 10.1016/j.ejmg.2019.103776. Epub 2019 Sep 25. Eur J Med Genet. 2020. PMID: 31562959
Fertility defects revealing germline biallelic nonsense NBN mutations.
Warcoin M, Lespinasse J, Despouy G, Dubois d'Enghien C, Laugé A, Portnoï MF, Christin-Maitre S, Stoppa-Lyonnet D, Stern MH. Warcoin M, et al. Among authors: portnoi mf. Hum Mutat. 2009 Mar;30(3):424-30. doi: 10.1002/humu.20904. Hum Mutat. 2009. PMID: 19105185
69 results