Wayne A. Mitchell
University College London
13 Papers
128 Citations
Wayne A. Mitchell is an academic researcher from University College London. The author has contributed to research in topics: Minimal residual disease & Gene. The author has an hindex of 8, co-authored 13 publications.
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Papers
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
Susanna Ranta,Susanna Ranta,Meral Topçu,Saara Tegelberg,Hüseyin Tan,Alp Üstübütün,Isil Saatci,Andreas Dufke,Herbert Enders,Keith R.E. Pohl,Yves Alembik,Wayne A. Mitchell,Sara E. Mole,Anna-Elina Lehesjoki +13 more
TL;DR: There is no apparent genotype‐phenotype correlation among the Turkish patients with CLN8 mutations, although their phenotype is distinct from that of Finnish Northern epilepsy patients.
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A Fluorescence in Situ Hybridization Map of 6q Deletions in Acute Lymphocytic Leukemia Identification and Analysis of a Candidate Tumor Suppressor Gene
Paul Sinclair,Amani Sorour,M Martineau,Christine J. Harrison,Wayne A. Mitchell,Elena O’Neill,Letizia Foroni +6 more
TL;DR: Analysis of GRIK2 in 14 ALL cases carrying heterozygous 6q deletions revealed a constitutional and paternally inherited C to G substitution in exon 6 encoding for an amino acid change in one patient, raising the possibility that this gene may be protective against multiple tumor types.
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Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
Wayne A. Mitchell,RB Wheeler,JD Sharp,S. L. Bate,RM Gardiner,U. S. Ranta,Liina Lonka,Ruth E Williams,Anna-Elina Lehesjoki,Sara E. Mole +9 more
TL;DR: Mutation analysis has not so far identified a disease causing mutation within the coding or non-coding exons of CLN8 in the families, but suggests that Turkish variant LINCL, despite having an earlier onset and more severe phenotype, may be an allelic variant of Northern epilepsy.
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A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.
TL;DR: A subset of Turkish families with a variant phenotype has been identified and these families appear to represent a new locus, which has been designated CLN7.
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•Book Chapter
CLN7 - Turkish variant late infantile NCL
RE Williams,M Topçu,BD Lake,Wayne A. Mitchell,SE Mole +4 more
- 01 Jan 1999
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