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Magyar, István; Colman, Dvora; Arnold, Eliane; Baumgartner, Daniela; Bottani, Armand; Fokstuen, Siv; Addor, Marie-Claude; Berger, Wolfgang; Carrel, Thierry; Steinmann, Beat; Mátyás, Gábor (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human mutation, 30(9), pp. 1355-64. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21058
Bottani, Armand; Orrico, Alfredo; Galli, Lucia; Karam, Olivier; Haenggeli, Charles-André; Ferey, Solène; Conrad, Bernard (2007). Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1. American journal of medical genetics. Part A, 143A(19), pp. 2334-8. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.31733
Béna, Frédérique; Bottani, Armand; Marcelli, Fabienne; Sizonenko, Loredana D'Amato; Conrad, Bernard; Dahoun, Sophie (2007). A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features. American journal of medical genetics. Part A, 143A(16), pp. 1894-9. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.31789
Bottani, Armand; Chelly, Jamel; de Brouwer, Arjan P M; Pardo, Bruno; Barker, Mandy; Capra, Valeria; Bartoloni, Lucia; Antonarakis, Stylianos E; Conrad, Bernard (2007). Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation. American journal of medical genetics. Part A, 143A(8), pp. 888-90. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.31651
