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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos 2001
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Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome Marneros, A. G.; Mehenni, H.; Reichenberger, E.; Antonarakis, Stylianos; ... Olsen, B. R. 2001
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Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis Hutter, P; Rey-Berthod, C; Chappuis, Pierre; Couturier, A; ... Soravia, Claudio 2001
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Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation Von Planta, Maya; Humbert, James Ronald; Wacker, Pierre; Rimensberger, Peter; ... Beris, Photis 2001
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Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes Neerman Arbez, Marguerite; De Moerloose, Philippe; Honsberger, A.; Parlier, G.; ... Morris, Michael Andréw 2001
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001
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Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency Bartoloni, Lucia; Wattenhofer, M.; Kudoh, J.; Berry, A.; ... Antonarakis, Stylianos 2000
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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) Maiti, A. K.; Bartoloni, Lucia; Mitchison, H. M.; Meeks, M.; ... Antonarakis, Stylianos 2000
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Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G 2000
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mtDNA analysis of Nile River Valley populations : a genetic corridor or a barrier to migration? Krings, Matthias; Salem, Abd-el Halim; Bauer, Karin; Geisert, Helga; ... Stoneking, Mark 1999
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The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos 1999
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Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency Neerman Arbez, Marguerite; Johnson, K. M.; Morris, Michael Andréw; McVey, J. H.; ... Tuddenham, E. G. 1999
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Mutation analyses of North American APS-1 patients Heino, M.; Scott, Hamish Steele; Chen, Q.; Peterson, P.; ... Krohn, K. 1999
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A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients Rosatelli, M. C.; Meloni, A.; Devoto, M.; Cao, A.; ... Antonarakis, Stylianos 1998
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Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis Scott, Hamish Steele; Kyriakou, D. S.; Peterson, P.; Heino, M.; ... Antonarakis, Stylianos 1998
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APECED: a monogenic autoimmune disease providing new clues to self-tolerance Peterson, P.; Nagamine, K.; Scott, Hamish Steele; Heino, M.; ... Krohn, K. J. 1998
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Overexpression of the nonpancreatic secretory group II PLA2 messenger RNA and protein in colorectal adenomas from familial adenomatous polyposis patients Kennedy, B P; Soravia, Claudio; Moffat, J; Xia, L; ... Bapat, B 1998
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Genotype-phenotype correlations in attenuated adenomatous polyposis coli Soravia, Claudio; Berk, T; Madlensky, L; Mitri, A; ... Bapat, B 1998
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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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