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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: molin a. 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.
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
Molin A, Benoist G, Jeanne-Pasquier C, Elkartoufi N, Litzer J, Decamp M, Gruchy N, Durand-Malbruny M, Begorre M, Attie-Bitach T, Leporrier N. Molin A, et al. Eur J Med Genet. 2013 Oct;56(10):580-3. doi: 10.1016/j.ejmg.2013.08.002. Epub 2013 Aug 15. Eur J Med Genet. 2013. PMID: 23954617
CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.
Molin A, Baudoin R, Kaufmann M, Souberbielle JC, Ryckewaert A, Vantyghem MC, Eckart P, Bacchetta J, Deschenes G, Kesler-Roussey G, Coudray N, Richard N, Wraich M, Bonafiglia Q, Tiulpakov A, Jones G, Kottler ML. Molin A, et al. J Clin Endocrinol Metab. 2015 Oct;100(10):E1343-52. doi: 10.1210/jc.2014-4387. Epub 2015 Jul 27. J Clin Endocrinol Metab. 2015. PMID: 26214117
Hyperparathyroidism complicating CYP 24A1 mutations.
Loyer C, Leroy C, Molin A, Odou MF, Huglo D, Lion G, Ernst O, Hoffmann M, Porchet N, Carnaille B, Pattou F, Kottler ML, Vantyghem MC. Loyer C, et al. Among authors: molin a. Ann Endocrinol (Paris). 2016 Oct;77(5):615-619. doi: 10.1016/j.ando.2016.03.002. Epub 2016 Jul 1. Ann Endocrinol (Paris). 2016. PMID: 27378451
143 results