Found: 7

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  • Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

    Published in:
    Nature Genetics, 2007, v. 39, n. 7, p. 889, doi. 10.1038/ng2066
    By:
    • den Hollander, Anneke I.;
    • Koenekoop, Robert K.;
    • Mohamed, Moin D.;
    • Arts, Heleen H.;
    • Boldt, Karsten;
    • Towns, Katherine V.;
    • Sedmak, Tina;
    • Beer, Monika;
    • Nagel-Wolfrum, Kerstin;
    • McKibbin, Martin;
    • Dharmaraj, Sharola;
    • Lopez, Irma;
    • Ivings, Lenka;
    • Williams, Grange A.;
    • Springell, Kelly;
    • Woods, C. Geoff;
    • Jafri, Hussain;
    • Rashid, Yasmin;
    • Strom, Tim M.;
    • van der Zwaag, Bert
    Publication type:
    Article

  • A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

    Published in:
    Nature Genetics, 2005, v. 37, n. 4, p. 353, doi. 10.1038/ng1539
    By:
    • Bond, Jacquelyn;
    • Roberts, Emma;
    • Springell, Kelly;
    • Lizarraga, Sophia;
    • Scott, Sheila;
    • Higgins, Julie;
    • Hampshire, Daniel J;
    • Morrison, Ewan E;
    • Leal, Gabriella F;
    • Silva, Elias O;
    • Costa, Suzana M R;
    • Baralle, Diana;
    • Raponi, Michela;
    • Karbani, Gulshan;
    • Rashid, Yasmin;
    • Jafri, Hussain;
    • Bennett, Christopher;
    • Corry, Peter;
    • Walsh, Christopher A;
    • Woods, C Geoffrey
    Publication type:
    Article

  • ASPM is a major determinant of cerebral cortical size.

    Published in:
    Nature Genetics, 2002, v. 32, n. 2, p. 316, doi. 10.1038/ng995
    By:
    • Bond, Jacquelyn;
    • Roberts, Emma;
    • Mochida, Ganesh H.;
    • Hampshire, Daniel J.;
    • Scott, Sheila;
    • Askham, Jonathan M.;
    • Springell, Kelly;
    • Mahadevan, Meera;
    • Crow, Yanick J.;
    • Markham, Alexander F.;
    • Walsh, Christopher A.;
    • Woods, C. Geoffrey
    Publication type:
    Article

  • MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 5, p. 543, doi. 10.1038/sj.ejhg.5201577
    By:
    • Hampshire, Daniel J;
    • Ayub, Mohammed;
    • Springell, Kelly;
    • Roberts, Emma;
    • Jafri, Hussain;
    • Rashid, Yasmin;
    • Bond, Jacquelyn;
    • Riley, John H;
    • Woods, C Geoffrey
    Publication type:
    Article

  • Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 4, p. 418, doi. 10.1038/sj.ejhg.5201593
    By:
    • Cossée, Mireille;
    • Demeer, Bénédicte;
    • Blanchet, Patricia;
    • Echenne, Bernard;
    • Singh, Deepika;
    • Hagens, Olivier;
    • Antin, Manuela;
    • Finck, Sonja;
    • Vallee, Louis;
    • Dollfus, Hélène;
    • Hegde, Sridevi;
    • Springell, Kelly;
    • Thelma, B. K.;
    • Woods, Geoffrey;
    • Kalscheuer, Vera;
    • Mandel, Jean-Louis
    Publication type:
    Article

  • An SCN9A channelopathy causes congenital inability to experience pain.

    Published in:
    Nature, 2006, v. 444, n. 7121, p. 894, doi. 10.1038/nature05413
    By:
    • Cox, James J.;
    • Reimann, Frank;
    • Nicholas, Adeline K.;
    • Thornton, Gemma;
    • Roberts, Emma;
    • Springell, Kelly;
    • Karbani, Gulshan;
    • Jafri, Hussain;
    • Mannan, Jovaria;
    • Raashid, Yasmin;
    • Al-Gazali, Lihadh;
    • Hamamy, Henan;
    • Valente, Enza Maria;
    • Gorman, Shaun;
    • Williams, Richard;
    • McHale, Duncan P.;
    • Wood, John N.;
    • Gribble, Fiona M.;
    • Woods, C. Geoffrey
    Publication type:
    Article

  • Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

    Published in:
    Human Mutation, 2010, v. 31, n. 5, p. E1361, doi. 10.1002/humu.21236
    By:
    • Towns, Katherine V.;
    • Kipioti, Athina;
    • Long, Vernon;
    • McKibbin, Martin;
    • Maubaret, Cecilia;
    • Vaclavik, Veronika;
    • Ehsani, Parastoo;
    • Springell, Kelly;
    • Kamal, Mohammed;
    • Ramesar, Raj S.;
    • Mackey, David A.;
    • Moore, Anthony T.;
    • Mukhopadhyay, Rajarshi;
    • Webster, Andrew R.;
    • Black, Graeme C.M.;
    • O'Sullivan, James;
    • Bhattacharya, Shomi S.;
    • Pierce, Eric A.;
    • Beggs, Jean D.;
    • Inglehearn, Chris F.
    Publication type:
    Article