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An intermediate phenotype in IDH related enchondromatosis spectrum.
Yilmaz-Gulec E, Marzin P, Huber-Lequesne C, Cormier-Daire V. Yilmaz-Gulec E, et al. Among authors: marzin p. Eur J Med Genet. 2023 Mar;66(3):104697. doi: 10.1016/j.ejmg.2023.104697. Epub 2023 Jan 14. Eur J Med Genet. 2023. PMID: 36649847
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.
Rouen A, Carlier L, Heide S, Egloff M, Marzin P, Ader F, Schwartz M, Rogers E, Joyé N, Balet R, Lédée N, Prat-Ellenberg L, Cassuto NG, Siffroi JP. Rouen A, et al. Among authors: marzin p. Reprod Biomed Online. 2017 Oct;35(4):372-378. doi: 10.1016/j.rbmo.2017.06.017. Epub 2017 Jun 27. Reprod Biomed Online. 2017. PMID: 28711302
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study; Attié-Bitach T, Boutaud L, Héron D, Mignot C. Depienne C, et al. Among authors: marzin p. Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10. Hum Genet. 2017. PMID: 28283832 Free PMC article.
New perspectives on the treatment of skeletal dysplasia.
Marzin P, Cormier-Daire V. Marzin P, et al. Ther Adv Endocrinol Metab. 2020 Mar 3;11:2042018820904016. doi: 10.1177/2042018820904016. eCollection 2020. Ther Adv Endocrinol Metab. 2020. PMID: 32166011 Free PMC article. Review.
24 results