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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: mittre h. 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.
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
Molin A, Wiedemann A, Demers N, Kaufmann M, Do Cao J, Mainard L, Dousset B, Journeau P, Abeguile G, Coudray N, Mittre H, Richard N, Weryha G, Sorlin A, Jones G, Kottler ML, Feillet F. Molin A, et al. Among authors: mittre h. J Bone Miner Res. 2017 Sep;32(9):1893-1899. doi: 10.1002/jbmr.3181. Epub 2017 Jul 13. J Bone Miner Res. 2017. PMID: 28548312 Free article.
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
Snanoudj S, Molin A, Colson C, Coudray N, Paulien S, Mittre H, Gérard M, Schaefer E, Goldenberg A, Bacchetta J, Odent S, Naudion S, Demeer B, Faivre L, Gruchy N, Kottler ML, Richard N. Snanoudj S, et al. Among authors: mittre h. J Bone Miner Res. 2020 May;35(5):913-919. doi: 10.1002/jbmr.3948. Epub 2020 Jan 13. J Bone Miner Res. 2020. PMID: 31886927 Free article.
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: mittre h. Endocr J. 2011;58(9):769-76. doi: 10.1507/endocrj.k11e-119. Epub 2011 Jun 30. Endocr J. 2011. PMID: 21720050 Free article.
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: mittre h. 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
Supernumerary marker chromosomes management in prenatal diagnosis.
Gruchy N, Lebrun M, Herlicoviez M, Alliet J, Gourdier D, Kottler ML, Mittre H, Leporrier N. Gruchy N, et al. Among authors: mittre h. Am J Med Genet A. 2008 Nov 1;146A(21):2770-6. doi: 10.1002/ajmg.a.32532. Am J Med Genet A. 2008. PMID: 18925665
51 results