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De novo 15q13.3 microdeletion with cryptogenic West syndrome.
Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M. Lacaze E, et al. Among authors: richard n. Am J Med Genet A. 2013 Oct;161A(10):2582-7. doi: 10.1002/ajmg.a.36085. Epub 2013 Aug 8. Am J Med Genet A. 2013. PMID: 23929658
[GnRH deficiency: new insights from genetics].
Kottler ML, Hamel A, Malville E, Richard N. Kottler ML, et al. Among authors: richard n. J Soc Biol. 2004;198(1):80-7. J Soc Biol. 2004. PMID: 15146960 Review. French.
A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH.
Kottler ML, Chou YY, Chabre O, Richard N, Polge C, Brailly-Tabard S, Chanson P, Guiochon-Mantel A, Huhtaniemi I, Young J. Kottler ML, et al. Among authors: richard n. Eur J Endocrinol. 2010 Mar;162(3):633-41. doi: 10.1530/EJE-09-0648. Epub 2009 Dec 4. Eur J Endocrinol. 2010. PMID: 19966036
Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis.
Richard N, Leprince C, Gruchy N, Pigny P, Andrieux J, Mittre H, Manouvrier S, Lahlou N, Weill J, Kottler ML. Richard N, et al. Endocr J. 2011;58(9):769-76. doi: 10.1507/endocrj.k11e-119. Epub 2011 Jun 30. Endocr J. 2011. PMID: 21720050 Free article.
322 results