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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.
Y chromosome variants and male reproductive function.
McElreavey K, Ravel C, Chantot-Bastaraud S, Siffroi JP. McElreavey K, et al. Int J Androl. 2006 Feb;29(1):298-303; discussion 304-6. doi: 10.1111/j.1365-2605.2005.00637.x. Int J Androl. 2006. PMID: 16466551 Review.
Mutations in the protamine 1 gene associated with male infertility.
Ravel C, Chantot-Bastaraud S, El Houate B, Berthaut I, Verstraete L, De Larouziere V, Lourenço D, Dumaine A, Antoine JM, Mandelbaum J, Siffroi JP, McElreavey K. Ravel C, et al. Mol Hum Reprod. 2007 Jul;13(7):461-4. doi: 10.1093/molehr/gam031. Epub 2007 May 9. Mol Hum Reprod. 2007. PMID: 17494104
Underlying karyotype abnormalities in IVF/ICSI patients.
Chantot-Bastaraud S, Ravel C, Siffroi JP. Chantot-Bastaraud S, et al. Reprod Biomed Online. 2008 Apr;16(4):514-22. doi: 10.1016/s1472-6483(10)60458-0. Reprod Biomed Online. 2008. PMID: 18413060 Review.
95 results