Conrad, Bernard

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2011

Nicoulaz, A; Rubi, F; Lieder, L; Wolf, R; Goeggel-Simonetti, B; Steinlin, M; Wiest, R; Bonel, H M; Schaller, A; Gallati, S; Conrad, B (2011). Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality. American journal of medical genetics. Part A, 155A(8), pp. 1964-8. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.33210

2008

Mefford, Heather C; Sharp, Andrew J; Baker, Carl; Itsara, Andy; Jiang, Zhaoshi; Buysse, Karen; Huang, Shuwen; Maloney, Viv K; Crolla, John A; Baralle, Diana; Collins, Amanda; Mercer, Catherine; Norga, Koen; de Ravel, Thomy; Devriendt, Koen; Bongers, Ernie M H F; de Leeuw, Nicole; Reardon, William; Gimelli, Stefania; Bena, Frederique; ... (2008). Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England journal of medicine NEJM, 359(16), pp. 1685-99. Waltham, Mass.: Massachusetts Medical Society MMS 10.1056/NEJMoa0805384

2007

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

Conrad, Bernard; Antonarakis, Stylianos E (2007). Gene duplication: a drive for phenotypic diversity and cause of human disease. Annual review of genomics and human genetics, 8, pp. 17-35. Palo Alto, Calif.: Annual Reviews Inc. 10.1146/annurev.genom.8.021307.110233

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

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