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Neurology|April 30, 2008
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)M A Kurian, N V Morgan, L MacPherson, et al.
Human Molecular Genetics|February 5, 2008
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumourFlavia Cerrato, Angela Sparago, Gaetano Verde, et al.
Human Mutation|October 6, 2009
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) geneDerek H K Lim, Pauline K Rehal, Michael S Nahorski, et al.
Journal of Medical Genetics|December 15, 2011
CHRNG genotype-phenotype correlations in the multiple pterygium syndromesJulie Vogt, Neil V Morgan, Pauline Rehal, et al.
The Journal of Clinical Investigation|January 6, 2011
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cellsNeil V Morgan, Sarah Goddard, Tony S Cardno, et al.
Molecular Genetics and Metabolism|March 16, 2010
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosisDanielle Crompton, Pauline K Rehal, Lesley MacPherson, et al.
Cancer Research|June 30, 2001
Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1alpha in clear cell renal carcinomasM S Wiesener, P M Münchenhagen, I Berger, et al.
Oncogene|October 14, 2003
Multigene methylation analysis of Wilms' tumour and adult renal cell carcinomaMark R Morris, Luke B Hesson, Kate J Wagner, et al.
Journal of Medical Genetics|February 5, 2008
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardationR H Scott, J Douglas, L Baskcomb, et al.
British Journal of Pharmacology|March 12, 2013
Impact of chronic congestive heart failure on pharmacokinetics and vasomotor effects of infused nitriteAbdul R Maher, Sayqa Arif, Melanie Madhani, et al.
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