Search Results - "Yates, J R W"

Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the Tuberous Sclerosis 2000 Study by Bolton, P F, Clifford, M, Tye, C, Maclean, C, Humphrey, A, le Maréchal, K, Higgins, J N P, Neville, B G R, Rijsdjik, F, Yates, J R W

“…Tuberous sclerosis complex (TSC) is associated with intellectual disability, but the risk pathways are poorly understood. The Tuberous Sclerosis 2000 Study is…”
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X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits by Kent, L, Emerton, J, Bhadravathi, V, Weisblatt, E, Pasco, G, Willatt, L R, McMahon, R, Yates, J R W

“…X-linked ichthyosis (XLI) (steroid sulfatase deficiency) is caused by deletions or point mutations of the steroid sulfatase (STS) gene on chromosome Xp22.32…”
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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome by Beysen, D., Raes, J., Leroy, B.P., Lucassen, A., Yates, J.R.W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J.P., Kim, J.R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L.M., Oley, C., Splitt, M., Thomson, J., Peer, Y. Van de, Veitia, R.A., De Paepe, A., De Baere, E.

“…The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at large distances from the target…”
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Age-related macular degeneration and the complement system by Khandhadia, S, Cipriani, V, Yates, J.R.W, Lotery, A.J

“…Abstract Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world. It is a complex multifactorial disease, and despite…”
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Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation by Khan, J C, Thurlby, D A, Shahid, H, Clayton, D G, Yates, J R W, Bradley, M, Moore, A T, Bird, A C

“…Background/aims: There is evidence that smoking is a risk factor for age related macular degeneration (AMD). However, not all studies have demonstrated this…”
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Age related macular degeneration and sun exposure, iris colour, and skin sensitivity to sunlight by Khan, J C, Shahid, H, Thurlby, D A, Bradley, M, Clayton, D G, Moore, A T, Bird, A C, Yates, J R W

“…Background/aim: It has been suggested that sun exposure may be a risk factor for age related macular degeneration (AMD) and that skin sensitivity to sunlight…”
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Genetic susceptibility to age related macular degeneration by Yates, John R W, Moore, Anthony T

“…Age related macular degeneration (AMD) is the leading cause of visual impairment in the elderly and a major cause of blindness in the developed world. The…”
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Evaluation of questionnaire on cancer family history in identifying patients at increased genetic risk in general practice by Leggatt, Virginia, Mackay, James, Yates, John R W

“…If improving knowledge about the genetics of familial cancers and other common diseases is to benefit all patients and not just those who are better informed,…”
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Tuberous sclerosis presenting in late adult life by Zarei, M, Collins, V P, Chandran, S, Valler, D, Higgins, J N P, Compston, D A S, Yates, J R W

“…A 59 year old woman presented with a three year history of left sided weakness. Magnetic resonance imaging of the brain showed a large high signal lesion…”
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Second-trimester maternal serum screening using alpha-fetoprotein, human chorionic gonadotrophin, and unconjugated oestriol: experience of a regional programme by Goodburn, S F, Yates, J R, Raggatt, P R, Carr, C, Ferguson-Smith, M E, Kershaw, A J, Milton, P J, Ferguson-Smith, M A

“…Over a 2-year period from January 1991 to December 1992, second-trimester maternal serum screening for Down's syndrome using alpha-fetoprotein (alpha FP),…”
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Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses by Ferguson-Smith, M A, Yates, J R

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European workshop on Emery-Dreifuss muscular dystrophy 1991 by Yates, J R

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Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects? by Yates, J R, Ferguson-Smith, M A, Shenkin, A, Guzman-Rodriguez, R, White, M, Clark, B J

“…Vitamin levels were measured in twenty women under 35 years of age with a history of two or more neural tube defect pregnancies. Each index case was compared…”
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Linkage detection under heterogeneity and the mixture problem by Chiano, M N, Yates, J R

“…Linkage analysis has contributed to the localization of many human disease genes. The presence of locus heterogeneity reduces statistical power and can…”
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Genetic counselling in X-linked ocular albinism : Clinical features of the carrier state by CHARLES, S. J, MOORE, A. T, GRANT, J. W, YATES, J. R. W

“…Forty-nine obligate heterozygotes and 64 at risk females were assessed from 17 families affected by X-linked ocular albinism to determine the relative values…”
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Clinical and molecular genetics of Stickler syndrome by Snead, Martin P, Yates, John R W

“…Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of…”
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X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients by Pimenides, D, George, N D L, Yates, J R W, Bradshaw, K, Roberts, S A, Moore, A T, Trump, D

“…Background: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner…”
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Bootstrapping in human genetic linkage by Chiano, M N, Yates, J R

“…Linkage analysis of discrete Mendelian traits has made a major contribution to the mapping of the human genome. However, in more complex situations,…”
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A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen by RICHARDS, A. J, YATES, J. R. W, WILLIAMS, R, PAYNE, S. J, POPE, F. M, SCOTT, J. D, SNEAD, M. P

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Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation by Blyth, Moira, Raponi, Michela, Treacy, Rebecca, Raymond, F Lucy, Yates, John R W, Baralle, Diana

“…Introduction Tuberous sclerosis (TS) is an autosomal dominant disorder with variable expression, which causes epilepsy, mental retardation and hamartomas in…”
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