Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients
Durmus, H, Laval, S H, Deymeer, F, Parman, Y, Kiyan, E, Gokyigiti, M, Ertekin, C, Ercan, I, Solakoglu, S, Karcagi, V, Straub, V, Bushby, K, Lochmüller, H, Serdaroglu-Oflazer, P
Published in Neurology (18.01.2011)
Published in Neurology (18.01.2011)
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Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis
Brown, M A, Laval, S H, Brophy, S, Calin, A
Published in Annals of the rheumatic diseases (01.11.2000)
Published in Annals of the rheumatic diseases (01.11.2000)
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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Lampe, A K, Dunn, D M, von Niederhausern, A C, Hamil, C, Aoyagi, A, Laval, S H, Marie, S K, Chu, M-L, Swoboda, K, Muntoni, F, Bonnemann, C G, Flanigan, K M, Bushby, K M D, Weiss, R B
Published in Journal of medical genetics (01.02.2005)
Published in Journal of medical genetics (01.02.2005)
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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue
Hicks, D., Lampe, A. K., Laval, S. H., Allamand, V., Jimenez-Mallebrera, C., Walter, M. C., Muntoni, F., Quijano-Roy, S., Richard, P., Straub, V., Lochmüller, H., Bushby, K. M. D.
Published in Brain (London, England : 1878) (01.01.2009)
Published in Brain (London, England : 1878) (01.01.2009)
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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
Lampe, A.K, Zou, Y, Sudano, D, O'Brien, K.K, Hicks, D, Laval, S.H, Charlton, R, Jimenez-Mallebrera, C, Zhang, R.-Z, Finkel, R.S, Tennekoon, G, Schreiber, G, van der Knaap, M.S, Marks, H, Straub, V, Flanigan, K.M, Chu, M.-L, Muntoni, F, Bushby, K.M.D, Bönnemann, C.G
Published in Human mutation (01.06.2008)
Published in Human mutation (01.06.2008)
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Whole-Genome Screening in Ankylosing Spondylitis: Evidence of Non-MHC Genetic-Susceptibility Loci
Laval, S.H., Timms, A., Edwards, S., Bradbury, L., Brophy, S., Milicic, A., Rubin, L., Siminovitch, K.A., Weeks, D.E., Calin, A., Wordsworth, B.P., Brown, M.A.
Published in American journal of human genetics (01.04.2001)
Published in American journal of human genetics (01.04.2001)
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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy
HICKS, Debbie, SARKOZY, Anna, BAILEY, Geraldine, MILLER, James, RADUNOVIC, Aleksander, HUGHES, Paul J, ROBERT, Richard, KRAUSE, Sabine, WALTER, Maggie C, LAVAL, Steven H, STRAUB, Volker, LOCHMÜLLER, Hanns, MUELAS, Nuria, BUSHBY, Kate, KÖEHLER, Katrin, HUEBNER, Angela, HUDSON, Gavin, CHINNERY, Patrick F, BARRESI, Rita, EAGLE, Michelle, POLVIKOSKI, Tuomo
Published in Brain (London, England : 1878) (01.01.2011)
Published in Brain (London, England : 1878) (01.01.2011)
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A genome-wide search for schizophrenia susceptibility genes
Shaw, S H, Kelly, M, Smith, A B, Shields, G, Hopkins, P J, Loftus, J, Laval, S H, Vita, A, De Hert, M, Cardon, L R, Crow, T J, Sherrington, R, DeLisi, L E
Published in American journal of medical genetics (07.09.1998)
Published in American journal of medical genetics (07.09.1998)
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Evidence for linkage to psychosis and cerebral asymmetry (relative hand skill) on the X chromosome
Laval, S H, Dann, J C, Butler, R J, Loftus, J, Rue, J, Leask, S J, Bass, N, Comazzi, M, Vita, A, Nanko, S, Shaw, S, Peterson, P, Shields, G, Smith, A B, Stewart, J, DeLisi, L E, Crow, T J
Published in American journal of medical genetics (07.09.1998)
Published in American journal of medical genetics (07.09.1998)
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Characterisation of the dysferlin skeletal muscle promoter
FOXTON, R. M, LAVAL, S. H, BUSHBY, K. M. D
Published in European journal of human genetics : EJHG (01.02.2004)
Published in European journal of human genetics : EJHG (01.02.2004)
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Y Chromosome Short Arm-Sxr Recombination in XSxr/Y Males Causes Deletion of Rbm and XY Female Sex Reversal
Laval, Steven H., Glenister, Peter H., Rasberry, Carol, Thornton, Claire E., Mahadevaiah, Shantha K., Cooke, Howard J., Burgoyne, Paul S., Cattanach, Bruce M.
Published in Proceedings of the National Academy of Sciences - PNAS (24.10.1995)
Published in Proceedings of the National Academy of Sciences - PNAS (24.10.1995)
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New Insights into the Man-Mouse Comparative Map of the X Chromosome
Blair, Helen J., Reed, Vivienne, Laval, Steven H., Boyd, Yvonne
Published in Genomics (San Diego, Calif.) (15.01.1994)
Published in Genomics (San Diego, Calif.) (15.01.1994)
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Mouse Homologues of the Human AZF Candidate Gene RBM Are Expressed in Spermatogonia and Spermatids, and Map to a Y Chromosome Deletion Interval Associated with a High Incidence of Sperm Abnormalities
Mahadevaiah, Shantha K., Odorisio, Teresa, Elliott, David J., Rattigan, Áine, Szot, Maria, Laval, Steven H., Washburn, Linda L., McCarrey, John R., Cattanach, Bruce M., Lovell-Badge, Robin, Burgoyne, Paul S.
Published in Human molecular genetics (01.04.1998)
Published in Human molecular genetics (01.04.1998)
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The X‐chromosome and susceptibility to ankylosing spondylitis
Hoyle, Emma, Laval, Steven H., Calin, Andrei, Wordsworth, B. Paul, Brown, Matthew A.
Published in Arthritis and rheumatism (01.06.2000)
Published in Arthritis and rheumatism (01.06.2000)
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