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Results 1-10 of 53 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2003Two further cases of Ohdo syndrome delineate the phenotypic variability of the conditionWhite, S.; Ades, L.; Amor, D.; Liebelt, J.; Bankier, A.; Baker, E.; Wilson, M.; Savarirayan, R.
1995Fragile X syndrome and other dynamic mutation diseasesSutherland, G.; Richards, R.
2000FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutationsGecz, J.
2002A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compactionCallen, D.; Eyre, H.; McDonnell, S.; Schuffenhauer, S.; Bhalla, K.
1997High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn SyndromeFang, Y.; Bain, S.; Haan, E.; Eyre, H.; MacDonald, M.; Wright, T.; Altherr, M.; Riess, O.; Sutherland, G.; Callen, D.
1998Fragile sites still breaking [Review]Sutherland, G.; Baker, E.; Richards, R.
1997Unbalanced t(4;11)(q32-q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromesByatt, S.; Baker, E.; Richards, R.; Roberts, C.; Smith, A.
1996FRAGILE X SYNDROME AND FRAGILE XE MENTAL RETARDATION [Review]Sutherland, G.; Mulley, J.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
2015Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsKumar, R.; Corbett, M.; Van Bon, B.; Gardner, A.; Woenig, J.; Jolly, L.; Douglas, E.; Friend, K.; Tan, C.; Van Esch, H.; Holvoet, M.; Raynaud, M.; Field, M.; Leffler, M.; Budny, B.; Wisniewska, M.; Badura-Stronka, M.; Latos-Bieleńska, A.; Batanian, J.; Rosenfeld, J.; et al.

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