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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Molin A, Lemoine S, Kaufmann M, Breton P, Nowoczyn M, Ballandonne C, Coudray N, Mittre H, Richard N, Ryckwaert A, Lavillaureix A, Jones G, Bacchetta J, Kottler ML. Molin A, et al. Among authors: richard n. Front Endocrinol (Lausanne). 2021 Oct 13;12:736240. doi: 10.3389/fendo.2021.736240. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34721296 Free PMC article.
[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.
[Epigenetics and pseudohypoparathyroidism].
Richard N, Abéguilé G, Coudray N, Kottler ML. Richard N, et al. Pathol Biol (Paris). 2010 Oct;58(5):367-71. doi: 10.1016/j.patbio.2009.09.007. Epub 2009 Nov 25. Pathol Biol (Paris). 2010. PMID: 19942373 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.
312 results