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Page 1
Variable phenotypic expression of Apert syndrome in monozygotic twins.
Dap M, Bach-Segura P, Bertholdt C, Menzies D, Masutti JP, Klein O, Perdriolle-Galet E, Lambert L, Morel O. Dap M, et al. Among authors: masutti jp. Clin Case Rep. 2018 Nov 11;7(1):54-57. doi: 10.1002/ccr3.1915. eCollection 2019 Jan. Clin Case Rep. 2018. PMID: 30656008 Free PMC article.
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.
Jourdan-Voyen L, Touraine R, Masutti JP, Busa T, Vincent-Delorme C, Dreyfus L, Molin A, Savey B, Mounzer A, Assaf Z, Atallah V, da Cruz V, Gaillard D, Leroy-Terquem E, Mouton JB, Ghoumid J, Picaud JC, Dijoud F, Bouquillon S, Baumann C, Lambert L. Jourdan-Voyen L, et al. Among authors: masutti jp. Arch Dis Child Fetal Neonatal Ed. 2020 Jul;105(4):387-392. doi: 10.1136/archdischild-2019-317121. Epub 2019 Oct 22. Arch Dis Child Fetal Neonatal Ed. 2020. PMID: 31641027
[A Buschke and Lowenstein tumor in a female patient].
Reichenbach I, Koebele A, Foliguet B, Hatier M, Masutti JP, Landes P. Reichenbach I, et al. Among authors: masutti jp. J Gynecol Obstet Biol Reprod (Paris). 1995;24(5):491-5. J Gynecol Obstet Biol Reprod (Paris). 1995. PMID: 7499735 Review. French.
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P; Collaborators. Bourgon N, et al. Ultrasound Obstet Gynecol. 2022 Apr;59(4):532-542. doi: 10.1002/uog.23715. Epub 2022 Mar 10. Ultrasound Obstet Gynecol. 2022. PMID: 34170046 Free article.
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
Jeanpierre C, Macé G, Parisot M, Morinière V, Pawtowsky A, Benabou M, Martinovic J, Amiel J, Attié-Bitach T, Delezoide AL, Loget P, Blanchet P, Gaillard D, Gonzales M, Carpentier W, Nitschke P, Tores F, Heidet L, Antignac C, Salomon R; Société Française de Foetopathologie. Jeanpierre C, et al. J Med Genet. 2011 Jul;48(7):497-504. doi: 10.1136/jmg.2010.088526. Epub 2011 Apr 13. J Med Genet. 2011. PMID: 21490379 Free article.