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Page 1
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic JM, Carbonne B, D'Hervé D, Aubry MC, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M. Quélin C, et al. Among authors: aubry mc. Eur J Med Genet. 2012 Feb;55(2):81-90. doi: 10.1016/j.ejmg.2011.12.002. Epub 2011 Dec 22. Eur J Med Genet. 2012. PMID: 22226660 Free article.
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.
Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, Encha-Razavi F, Benachi A. Martinovic-Bouriel J, et al. Among authors: aubry mc. Am J Med Genet A. 2007 Feb 1;143A(3):219-28. doi: 10.1002/ajmg.a.31599. Am J Med Genet A. 2007. PMID: 17236193
Prenatal diagnosis of diastematomyelia.
Sonigo-Cohen P, Schmit P, Zerah M, Chat L, Simon I, Aubry MC, Gonzales M, Pierre-Kahn A, Brunelle F. Sonigo-Cohen P, et al. Among authors: aubry mc. Childs Nerv Syst. 2003 Aug;19(7-8):555-60. doi: 10.1007/s00381-003-0771-8. Epub 2003 Jul 4. Childs Nerv Syst. 2003. PMID: 12845458
262 results