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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practiceBRUNO, D. L; GANESAMOORTHY, D; MCGILLIVRAY, G et al.Journal of medical genetics. 2009, Vol 46, Num 2, pp 123-131, issn 0022-2593, 9 p.Article

The contribution of the DFNB1 locus to neurosensory deafness in a caucasian populationMAW, M. A; ALLEN-POWELL, D. R; GOODEY, R. J et al.American journal of human genetics. 1995, Vol 57, Num 3, pp 629-635, issn 0002-9297Article

Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methodsRIZO, W. B; CRAFT, D. A; KELSON, T. L et al.Prenatal diagnosis. 1994, Vol 14, Num 7, pp 577-581, issn 0197-3851Article

Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletionSTEELE, D. L; CHISHOLM, A. K; MCGHIE, J. D. R et al.American journal of medical genetics. 2005, Vol 134B, Num 1, pp 104-109, issn 0148-7299, 6 p.Article

The spectrum of mutations in TBX3 : Genotype/phenotype relationship in ulnar-mammary syndromeBAMSHAD, M; LE, T; GARDNER, R. J. M et al.American journal of human genetics. 1999, Vol 64, Num 6, pp 1550-1562, issn 0002-9297Article

Experience with direct molecular diagnosis of fragile XMULLEY, J. C; YU, S; GEDEON, A. K et al.Journal of medical genetics. 1992, Vol 29, Num 6, pp 368-374, issn 0022-2593Article

Trisomy 16 detected at chorion villus samplingHASHISH, A. F; MONK, N. A; LOVELL-SMITH, M. P. F et al.Prenatal diagnosis. 1989, Vol 9, Num 6, pp 427-432, issn 0197-3851Article

Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual OutcomeCOMAN, D; GARDNER, R. J. M; PERTILE, M. D et al.Fetal diagnosis and therapy. 2010, Vol 28, Num 2, pp 117-118, issn 1015-3837, 2 p.Article

High frequency hearing loss correlated with mutations in the GJB2 geneWILCOX, S. A; SAUNDERS, K; CONE-WESSON, B et al.Human genetics. 2000, Vol 106, Num 4, pp 399-405, issn 0340-6717Article

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA geneDELATYCKI, M. B; PARIS, D; GARDNER, R. J. M et al.Journal of medical genetics. 1998, Vol 35, Num 9, pp 713-716, issn 0022-2593Article

Trisomy 13 mosaicism at prenatal diagnosis : Dilemmas in interpretationDELATYCKI, M. B; PERTILE, M. D; GARDNER, R. J. M et al.Prenatal diagnosis. 1998, Vol 18, Num 1, pp 45-49, issn 0197-3851Article

Linkage of an autosomal dominant clefting syndrome (Van der Woude) to Loci on chromosome IqMURRAY, J. C; NISHIMURA, D. Y; GLINSKI, L. P et al.American journal of human genetics. 1990, Vol 46, Num 3, pp 486-491, issn 0002-9297, 6 p.Article

A three way translocation in mother and daughterGARDNER, R. J. M; MONK, N. A; ALLEN, G. J et al.Journal of medical genetics. 1986, Vol 23, Num 1, issn 0022-2593, 90Article

Ring 21 chromosome: the mild end of the phenotypic spectrumGARDNER, R. J. M; MONK, N. A; CLARKSON, J. E et al.Clinical genetics. 1986, Vol 30, Num 6, pp 466-470, issn 0009-9163Article

Loss of a Harvey ras allele in sporadic Wilms' tumourREEVE, A. E; HOUSIAUX, P. J; GARDNER, R. J. M et al.Nature (London). 1984, Vol 309, Num 5964, pp 174-176, issn 0028-0836Article

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 geneSMITH, M. J; GARDNER, R. J. M; KNIGHT, M. A et al.Neuroreport (Oxford). 1999, Vol 10, Num 3, pp 503-507, issn 0959-4965Article

Spinocerebellar ataxia type 2 : Clinical features of a pedigree displaying prominent frontal-executive dysfunctionSTOREY, E; FORREST, S. M; SHAW, J. H et al.Archives of neurology (Chicago). 1999, Vol 56, Num 1, pp 43-50, issn 0003-9942Article

Reduced collagen VI causes Bethlem myopathy : a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiencyLAMANDE, S. R; BATEMAN, J. F; HUTCHISON, W et al.Human molecular genetics (Print). 1998, Vol 7, Num 6, pp 981-989, issn 0964-6906Article

Three cases of trisomy 13 mosaicism and a review of the literatureDELATYCKI, M; GARDNER, R. J. M.Clinical genetics. 1997, Vol 51, Num 6, pp 403-407, issn 0009-9163Article

Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X)GIBBONS, R. J; BRUETON, L; NEWBURY-ECOB, R et al.American journal of medical genetics. 1995, Vol 55, Num 3, pp 288-299, issn 0148-7299Article

Progressive osseous heteroplasia : a distinct developmental disorder of heterotopic ossificationKAPLAN, F. S; CRAVER, R; MACEWEN, G. D et al.Journal of bone and joint surgery. American volume. 1994, Vol 76, Num 3, pp 425-436, issn 0021-9355Article

Dominantly inherited dilated cardiomyopathyGARDNER, R. J. M; HANSON, J. W; HINRICHS, R. L et al.American journal of medical genetics. 1987, Vol 27, Num 1, pp 61-73, issn 0148-7299Article

Ring chromosome 1 associated with radial ray defectGARDNER, R. J. M; GRINDLEY, R. M; CHEWINGS, W. E et al.Journal of medical genetics. 1984, Vol 21, Num 5, issn 0022-2593, 400Article

A new dominantly inherited pure cerebellar ataxia, SCA 30STOREY, E; BAHLO, M; FAHEY, M et al.Journal of neurology, neurosurgery and psychiatry. 2009, Vol 80, Num 4, pp 408-411, issn 0022-3050, 4 p.Article

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domainMCGILLIVRAY, G; SAVARIRAYAN, R; COX, T. C et al.Journal of medical genetics. 2005, Vol 42, Num 8, pp 656-662, issn 0022-2593, 7 p.Article

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