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[Misnaming things adds to the world's misfortune].
Munnich A. Munnich A. Med Sci (Paris). 2016 Oct;32(10):795-796. doi: 10.1051/medsci/20163210001. Epub 2016 Oct 19. Med Sci (Paris). 2016. PMID: 27758732 Free article. French. No abstract available.
[MAOB: a modifier gene in phenylketonuria?].
Ghozlan A, Munnich A. Ghozlan A, et al. Among authors: munnich a. Med Sci (Paris). 2004 Oct;20(10):929-32. doi: 10.1051/medsci/20042010929. Med Sci (Paris). 2004. PMID: 15461973 Free article. Review. French.
[Jean Frézal, and the emergence of medical genetics].
Gilgenkrantz S, Munnich A, Briard ML, Le Merrer M, Feingold J, Mattei JF. Gilgenkrantz S, et al. Among authors: munnich a. Med Sci (Paris). 2008 Nov;24(11):991-6. Med Sci (Paris). 2008. PMID: 19038109 Free article. French. No abstract available.
[The 2000 years].
Peschanski M, Bergeron M, Boué A, Coppens Y, Changeux JP, Corvol P, Lazar P, Kahn A, Bichet DG, Friedlander G, Epelbaum J, Kroemer G, Chneiweiss H, Munnich A, Bouvier M, Jordan B, Frydman R, Morange M, Fougereau M. Peschanski M, et al. Among authors: munnich a. Med Sci (Paris). 2015 Mar;31 Spec No 1:47-90. doi: 10.1051/medsci/201531s1005. Epub 2015 Jun 3. Med Sci (Paris). 2015. PMID: 26038812 Free article. French. No abstract available.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L. Mazel B, et al. Among authors: munnich a. Am J Med Genet B Neuropsychiatr Genet. 2024 Mar 8:e32970. doi: 10.1002/ajmg.b.32970. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38459409
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. Wang HH, et al. Among authors: munnich a. J Clin Invest. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054. J Clin Invest. 2024. PMID: 37943610 Free PMC article.
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A. Saadi A, et al. Among authors: munnich a. Am J Med Genet A. 2023 Sep;191(9):2274-2289. doi: 10.1002/ajmg.a.63335. Epub 2023 Jun 30. Am J Med Genet A. 2023. PMID: 37387251
1,062 results