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Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
Solé G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Faivre L, Landré E, Debruxelles S, Dieux-Coeslier A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C. Solé G, et al. Among authors: lacombe d. J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1394-8. doi: 10.1136/jnnp.2008.162263. J Neurol Neurosurg Psychiatry. 2009. PMID: 19917821
[Does germinal chromosomal mosaicism exist?].
Goizet C, Taine L, Wen ZQ, Horovitz J, Lacombe D, Saura R. Goizet C, et al. Among authors: lacombe d. J Gynecol Obstet Biol Reprod (Paris). 1997;26(3 Suppl):133-5. J Gynecol Obstet Biol Reprod (Paris). 1997. PMID: 9471442 French. No abstract available.
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Villard L, et al. Among authors: lacombe d. J Med Genet. 1999 Mar;36(3):183-6. J Med Genet. 1999. PMID: 10204841 Free PMC article.
W syndrome: report of three cases and review.
Goizet C, Bonneau D, Lacombe D. Goizet C, et al. Among authors: lacombe d. Am J Med Genet. 1999 Dec 22;87(5):446-9. Am J Med Genet. 1999. PMID: 10594887 Review.
665 results