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  1. No Access

    Article

    A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

    Tarpey et al. carry out a large-scale systematic sequencing of the majority of X-chromosome coding exons from 208 families with multiple individuals with mental retardation and a pattern of transmission compatibl...

    Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley… in Nature Genetics (2009)

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    Article

    Refined map** of X-linked reticulate pigmentary disorder and sequencing of candidate genes

    X-linked reticulate pigmentary disorder with systemic manifestations in males (PDR) is very rare. Affected males are characterized by cutaneous and visceral symptoms suggestive of abnormally regulated inflamma...

    Lane J. Jaeckle Santos, Chao **ng, Robert B. Barnes, Lesley C. Ades… in Human Genetics (2008)

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    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

    Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inheritance and an unusual expression pattern. Disorders arising from mutations on the X chromosome are typicall...

    Leanne M Dibbens, Patrick S Tarpey, Kim Hynes, Marta A Bayly… in Nature Genetics (2008)

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    Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

    Nonsense-mediated mRNA decay (NMD) is of universal biological significance1,2,3. It has emerged as an important global RNA, DNA and translation regulatory pathway4. By systematically sequencing 737 genes (annotat...

    Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez… in Nature Genetics (2007)

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