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PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy Guicheney, P; Vignier, N; Zhang, X; He, Y; ... Tryggvason, K 1998
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Mechanism of retinoblastoma gene inactivation in the spectrum of neuroendocrine lung tumors Gouyer, V; Gazzéri, S; Bolon, Isabelle; Drevet, C; ... Brambilla, E 1998
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos 1997
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Positional cloning of the APECED gene Nagamine, K.; Peterson, P.; Scott, Hamish Steele; Kudoh, J.; ... Shimizu, N. 1997
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Mutational analysis of the protein subunits of the signal recognition particle Alu-domain Bui, Nazarena; Wolff, N; Cusack, S; Strub, Katharina 1997
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The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Mehta, T. Y.; ... Antonarakis, Stylianos 1997
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Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency Villard, Jean; Reith, Walter; Barras, Emmanuele; Gos, A.; ... Mach, Bernard 1997
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Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation Hutter, Pierre; Couturier, A.; Scott, R. J.; Alday, P.; ... Buerstedde, J. M. 1996
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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Transient translational silencing by reversible mRNA deadenylation Huarte, Joachim; Stutz, A.; O'Connell, M. L.; Gubler, P.; ... Vassalli, Jean-Dominique 1992
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