Zobrazeno 1 - 10
of 27
pro vyhledávání: '"L. P. Lazarou"'
Publikováno v:
European Journal of Paediatric Neurology. 16:209-212
Male patients with large duplications of the methyl CpG-binding protein 2 (MECP2) gene have been identified with a characteristic phenotype consisting of infantile hypotonia replaced by spasticity, developmental delay, severe mental retardation and r
Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene
Autor:
Nadia Chuzhanova, David Neil Cooper, Rachel Butler, David Stuart Millar, Lyndon G. Rosser, Hayley Archer, Shane McKee, L. P. Lazarou, James Hughes
Publikováno v:
Genomic Medicine. 2:77-81
The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot
Autor:
Alison Kerr, Sharon D. Whatley, Julian R. Sampson, Helen Leonard, David S. Millar, Christopher Verity, Lucy Grove, David Ravine, L. P. Lazarou, P. W. Thompson, Daniela T. Pilz, John Christodoulou, Hayley Archer, Angus John Clarke, Julie Evans
Publikováno v:
American Journal of Medical Genetics Part A. :691-694
A translocation that disrupted the Netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). The netrin G1 protein (NTNG1) has an important role in the developing central nervous system, particul
Autor:
Alison Kerr, Kay D. MacDermot, Yanick J. Crow, David Neil Cooper, Rachel Butler, Angus John Clarke, Peter Huppke, J. Horn, G. Hermon, Sharon D. Whatley, Franco Laccone, Alex Magee, Willie Reardon, David Ravine, David J. Bunyan, A. Donaldson, E. Sweeney, Bronwyn Kerr, R. A. Smith, Julie Evans, Daniela T. Pilz, Stephen Davies, Hayley Archer, L. P. Lazarou, Julian R. Sampson, Z. Miedzybrodzka
Publikováno v:
Journal of Medical Genetics. 43:451-456
MECP2 mutations are identifiable in approximately 80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular an
Autor:
James Colley, Julian R. Sampson, David Neil Cooper, Daniela T. Pilz, L. P. Lazarou, Alison Kerr, Jytte Bieber Nielsen, John Christodoulou, Kirstine Ravn, Angus John Clarke, Rachel Butler, Sharon D. Whatley, Elizabeth Williams, Jozef Gecz, Michael Wright, Julie Evans, Philip E. Jardine, Hayley Archer
Publikováno v:
European Journal of Human Genetics. 13:1113-1120
Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimes also show features similar to those seen in Rett Sy
Autor:
Claire Faulkner, Louise Lavender, Tina Bedenham, Ian A. Cree, Hongxiang Liu, Yuanxue Huang, Stacey Sandell, Charlene Crosby, Emma Howard, Julia Knight, John Goodall, Maggie Williams, Andrew L. Wallace, Antonio Milano, Martina Owens, Laura Dutton, Treena Cranston, Sian Ellard, Idowu Adebiyi, L. P. Lazarou, Alison Skinner, Elizabeth Young, Jonathan L A Callaway, Rachel Butler, Catherine Faulkes, Debbie Mair, Jonathan Mark Frampton, Vicky Spivey
Publikováno v:
Diagnostic molecular pathology : the American journal of surgical pathology, part B. 22(4)
EGFR mutation testing of tumor samples is routinely performed to predict sensitivity to treatment with tyrosine kinase inhibitors for patients with non-small cell lung cancer. At least 9 different methodologies are employed in UK laboratories, and th
Publikováno v:
Kidney International. 56:34-40
BACKGROUND: Mutations within the PKD1 gene are responsible for the most common and most severe form of autosomal dominant polycystic kidney disease (ADPKD). Although it is known that there is a wide range of disease severity within PKD1 families, it
Autor:
David Gonzalez de Castro, L. P. Lazarou, Suzanne Parry, Andrew Dodson, Rachel Butler, Brendan O'Sullivan, Zandra C. Deans, Caroline Clark, Neil Bilbe, Philippe Taniere
Publikováno v:
Journal of clinical pathology. 66(4)
Background The clinical need to determine the presence of epidermal growth factor receptor (EGFR) gene mutations in non-small-cell lung cancers (NSCLC) in order to make informed decisions for patient treatment has seen the widespread introduction of
Autor:
Russell G. Snell, J C MacMillan, I. Fenton, Jeremy Peter Cheadle, Peter S. Harper, Albert Tyler, L. P. Lazarou, G. D. Houlihan, J. D. Shaw
Publikováno v:
The Lancet. 342:954-958
The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene (IT15) on chromosome 4. We have investigated the relation of the phenotype of HD to this molecul
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
Autor:
L. P. Lazarou, Jeremy Peter Cheadle, Marcy E. MacDonald, James F. Gusella, Peter Davies, I. Fenton, J C MacMillan, Peter S. Harper, Russell G. Snell, D.J. Shaw
Publikováno v:
Nature Genetics. 4:393-397
The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients and 360 normal controls reveals a range of 30-70 repeats in affected individuals and 9-34 in normals. We find significant n