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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. Among authors: kottler ml. Endocr J. 2011;58(9):769-76. doi: 10.1507/endocrj.k11e-119. Epub 2011 Jun 30. Endocr J. 2011. PMID: 21720050 Free article.
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: kottler ml. 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.
105 results