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Page 1
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. Among authors: marret s. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A. Le Meur N, et al. Among authors: marret s. Am J Med Genet A. 2005 May 1;134(4):439-42. doi: 10.1002/ajmg.a.30660. Am J Med Genet A. 2005. PMID: 15810003
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P. Ottolenghi C, et al. Among authors: marret s. Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21560188
Pathophysiology of cerebral palsy.
Marret S, Vanhulle C, Laquerriere A. Marret S, et al. Handb Clin Neurol. 2013;111:169-76. doi: 10.1016/B978-0-444-52891-9.00016-6. Handb Clin Neurol. 2013. PMID: 23622161 Review.
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.
Lagoutte-Renosi J, Ségalas-Milazzo I, Crahes M, Renosi F, Menu-Bouaouiche L, Torre S, Lardennois C, Rio M, Marret S, Brasse-Lagnel C, Laquerrière A, Bekri S. Lagoutte-Renosi J, et al. Among authors: marret s. JIMD Rep. 2015 Oct 17;28:1-10. doi: 10.1007/8904_2015_499. Online ahead of print. JIMD Rep. 2015. PMID: 26475292 Free PMC article.
Pyridoxine-dependent epilepsy: report on three families with neuropathology.
Marguet F, Barakizou H, Tebani A, Abily-Donval L, Torre S, Bayoudh F, Jebnoun S, Brasseur-Daudruy M, Marret S, Laquerriere A, Bekri S. Marguet F, et al. Among authors: marret s. Metab Brain Dis. 2016 Dec;31(6):1435-1443. doi: 10.1007/s11011-016-9869-z. Epub 2016 Jul 20. Metab Brain Dis. 2016. PMID: 27438048
322 results