Found: 6

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  • A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2577, doi. 10.1002/ajmg.a.35558
    By:
    • Pagnamenta, Alistair T.;
    • Murray, Jennie E.;
    • Yoon, Grace;
    • Akha, Elham Sadighi;
    • Harrison, Victoria;
    • Bicknell, Louise S.;
    • Ajilogba, Kaseem;
    • Stewart, Helen;
    • Kini, Usha;
    • Taylor, Jenny C.;
    • Keays, David A.;
    • Jackson, Andrew P.;
    • Knight, Samantha J.L.
    Publication type:
    Article

  • Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2719, doi. 10.1002/ajmg.a.35447
    By:
    • Bober, Michael B.;
    • Niiler, Tim;
    • Duker, Angela L.;
    • Murray, Jennie E.;
    • Ketterer, Tara;
    • Harley, Margaret E.;
    • Alvi, Sabah;
    • Flora, Christina;
    • Rustad, Cecilie;
    • Bongers, Ernie M.H.F.;
    • Bicknell, Louise S.;
    • Wise, Carol;
    • Jackson, Andrew P.
    Publication type:
    Article

  • Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

    Published in:
    Nature Genetics, 2014, v. 46, n. 12, p. 1283, doi. 10.1038/ng.3122
    By:
    • Martin, Carol-Anne;
    • Klingseisen, Anna;
    • Bicknell, Louise S;
    • Leitch, Andrea;
    • Murray, Jennie E;
    • Hunt, David;
    • Ding, James;
    • Harley, Margaret E;
    • Heyn, Patricia;
    • Jackson, Andrew P;
    • Daire, Valérie Cormier;
    • Dollfus, Hélène;
    • Dupuis, Lucie;
    • Mendoza-Londono, Roberto;
    • Bashamboo, Anu;
    • McElreavey, Kenneth;
    • Kariminejad, Ariana;
    • Moore, Anthony T;
    • Saggar, Anand;
    • Schlechter, Catie
    Publication type:
    Article

  • Exploring microcephaly and human brain evolution.

    Published in:
    Developmental Medicine & Child Neurology, 2012, v. 54, n. 7, p. 580, doi. 10.1111/j.1469-8749.2012.04330.x
    By:
    • MURRAY, JENNIE E;
    • JACKSON, ANDREW P
    Publication type:
    Article

  • Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1063, doi. 10.1002/humu.23776
    By:
    • Tarnauskaitė, Žygimantė;
    • Bicknell, Louise S.;
    • Marsh, Joseph A.;
    • Murray, Jennie E.;
    • Parry, David A.;
    • Logan, Clare V.;
    • Bober, Michael B.;
    • Silva, Deepthi C.;
    • Duker, Angela L.;
    • Sillence, David;
    • Wise, Carol;
    • Jackson, Andrew P.;
    • Murina, Olga;
    • Reijns, Martin A. M.
    Publication type:
    Article

  • Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 76, doi. 10.1002/humu.22461
    By:
    • Murray, Jennie E.;
    • Bicknell, Louise S.;
    • Yigit, Gökhan;
    • Duker, Angela L.;
    • Kogelenberg, Margriet;
    • Haghayegh, Sara;
    • Wieczorek, Dagmar;
    • Kayserili, Hülya;
    • Albert, Michael H.;
    • Wise, Carol A.;
    • Brandon, January;
    • Kleefstra, Tjitske;
    • Warris, Adilia;
    • Flier, Michiel;
    • Bamforth, J. Steven;
    • Doonanco, Kurston;
    • Adès, Lesley;
    • Ma, Alan;
    • Field, Michael;
    • Johnson, Diana
    Publication type:
    Article