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  1. Article

    Erratum to: Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia

    Fiona Connell, Kamini Kalidas, Pia Ostergaard, Glen Brice, Tessa Homfray… in Human Genetics (2010)

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    Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia

    Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive ...

    Fiona Connell, Kamini Kalidas, Pia Ostergaard, Glen Brice, Tessa Homfray… in Human Genetics (2010)

  3. Article

    Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11

    LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary sten...

    Kamini Kalidas, Adam C. Shaw, Andrew H. Crosby… in Journal of Human Genetics (2005)

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    Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

    CFC (cardiofaciocutaneous) syndrome (MIM 115150) has been considered by several authors to be a more severe expression of Noonan syndrome. Affected patients present with congenital heart defects, cutaneous ab...

    Andra Ion, Marco Tartaglia, **aoling Song, Kamini Kalidas… in Human Genetics (2002)

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    Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

    Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, proportionate short stature and heart disease (most commonly pulmonic stenosis and hypertrophic cardi...

    Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg, Giuseppe Zampino… in Nature Genetics (2001)

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    A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

    Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers ...

    Hiroshi Inoue, Yukio Tanizawa, Jon Wasson, Philip Behn, Kamini Kalidas… in Nature Genetics (1998)