L. Lazarou

发表

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

M. MacDonald, R. Snell, J. Gusella, 1993, Nature Genetics.

Clinical presentation and long‐term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study

I. Olivotto, R. McGowan, G. Limongelli, 2021, ESC heart failure.

Early onset seizures and Rett-like features associated with mutations in CDKL5

J. Gécz, D. Cooper, A. Clarke, 2005, European Journal of Human Genetics.

Improvement in the quality of molecular analysis of EGFR in non-small-cell lung cancer detected by three rounds of external quality assessment

R. Butler, Z. Deans, S. Parry, 2013, Journal of Clinical Pathology.

A Comparison of Methods for EGFR Mutation Testing in Non–Small Cell Lung Cancer

S. Ellard, J. Knight, I. Cree, 2013, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

NTNG1 mutations are a rare cause of Rett syndrome

A. Clarke, D. Pilz, J. Christodoulou, 2006, American journal of medical genetics. Part A.

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

D. Cooper, D. Pilz, N. Chuzhanova, 2010, Human Genomics.

Exclusion testing in pregnancy for Huntington's disease.

P. Harper, O. Quarrell, L. Lazarou, 1990, Journal of medical genetics.

Gene symbol: PKD1 Disease: Polycystic kidney disease

F. Davies, G. Coles, D. Ravine, 1998, Human Genetics.

Presymptomatic Testing for Huntington's Disease in Wales 1987–90

P. Harper, L. Lazarou, M. Morris, 1992, British Journal of Psychiatry.

Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity

A. Clarke, C. Wallgren‐Pettersson, B. Jasani, 1993, Journal of the Neurological Sciences.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

D. Cooper, N. Chuzhanova, S. McKee, 2008, Genomic Medicine.

Molecular analysis and clinical correlations of the Huntington's disease mutation

R. Snell, P. Harper, J. Cheadle, 1993, The Lancet.

Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population.

P. Harper, F. Davies, G. Coles, 1987, Journal of medical genetics.

Mutations in TITF-1 are associated with benign hereditary chorea.

B. D. de Vries, M. MacDonald, W. Arts, 2002, Human molecular genetics.

PROBLEMS IN GENETIC PREDICTION FOR HUNTINGTON'S DISEASE

P. Harper, L. Lazarou, M. Morris, 1989, The Lancet.

MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.

P. Fallon, L. Lazarou, D. Fernandez, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Five years experience of predictive testing for myotonic dystrophy using linked DNA markers.

W. Reardon, P. Harper, L. Lazarou, 1992, American journal of medical genetics.

High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis

D. Pilz, R. Guerrini, D. Mei, 2008, Journal of Medical Genetics.

implications for molecular diagnosis gene in lissencephaly: LIS1 duplicationin the High frequency of genomic deletionsand a

D. Pilz, R. Guerrini, D. Mei, 2008 .

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

A. Clarke, N. Thomas, S. M. Tanner, 1999, Neuromuscular Disorders.

Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.

R. Snell, S. Youngman, D. Shaw, 1989, Journal of medical genetics.

Huntington's disease: predictive testing and the molecular genetics laboratory

P. Harper, L. Lazarou, A. Meredith, 1993, Clinical genetics.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

Novel and recurrent mutations in the PKD1 (Polycystic Kidney disease) gene

F. Davies, G. Coles, D. Ravine, 1998, Human Genetics.

Familial phenotype differences in PKD11.

P. Holmans, D. Ravine, A. Williams, 1999, Kidney international.

Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred.

M. Buchalter, S. Davies, D. Ravine, 2000, American journal of kidney diseases : the official journal of the National Kidney Foundation.

RFLP for the human erb-A beta locus.

F. Wyllie, D. Wynford‐Thomas, L. Lazarou, 1988, Nucleic Acids Research.