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Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the Tuberous Sclerosis 2000 Study

Psychological medicine, 2015-08, Vol.45 (11), p.2321-2331

2015

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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

Journal of medical genetics, 2008-08, Vol.45 (8), p.519-524

2008

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Age-related macular degeneration and the complement system

Immunobiology (1979), 2012-02, Vol.217 (2), p.127-146

2012

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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

American journal of human genetics, 2005-08, Vol.77 (2), p.205-218

2005

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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

British journal of ophthalmology, 2006-01, Vol.90 (1), p.75-80

2006

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Age related macular degeneration and sun exposure, iris colour, and skin sensitivity to sunlight

British journal of ophthalmology, 2006-01, Vol.90 (1), p.29-32

2006

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Genetic susceptibility to age related macular degeneration

Journal of Medical Genetics, 2000-02, Vol.37 (2), p.83-87

2000

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Clinical and molecular genetics of Stickler syndrome

Journal of Medical Genetics, 1999-05, Vol.36 (5), p.353-359

1999

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Evaluation of questionnaire on cancer family history in identifying patients at increased genetic risk in general practice

BMJ (Online), 1999-09, Vol.319 (7212), p.757

International edition, 1999

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X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

Journal of medical genetics, 2005-06, Vol.42 (6), p.e35-e35

2005

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Tuberous sclerosis presenting in late adult life

Journal of neurology, neurosurgery and psychiatry, 2002-10, Vol.73 (4), p.436-438

2002

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Second-trimester maternal serum screening using alpha-fetoprotein, human chorionic gonadotrophin, and unconjugated oestriol: Experience of a regional programme

Prenatal diagnosis, 1994-05, Vol.14 (5), p.391-402

1994

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Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

Human molecular genetics, 2000-07, Vol.9 (12), p.1873-1879

2000

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Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

Journal of neurology, neurosurgery and psychiatry, 2010-03, Vol.81 (3), p.350-352

2010

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Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients

Nature genetics, 1994-02, Vol.6 (2), p.193-196

1994

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COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

British journal of ophthalmology, 2000-04, Vol.84 (4), p.364-371

2000

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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

Prenatal diagnosis, 1984-11, Vol.4 (7), p.5-44

1984

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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

Human molecular genetics, 1996-09, Vol.5 (9), p.1339-1343

1996

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Loss of heterozygosity in tuberous sclerosis hamartomas

Journal of medical genetics, 1996-11, Vol.33 (11), p.962-964

1996

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X linked retinoschisis

British journal of ophthalmology, 1995-07, Vol.79 (7), p.697-702

1995

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Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects?

Clinical genetics, 1987-05, Vol.31 (5), p.279-287

1987

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Von Hippel-Lindau disease: a genetic study

Journal of medical genetics, 1991-07, Vol.28 (7), p.443-447

1991

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European Workshop on Emery-Dreifuss Muscular Dystrophy 1991

Neuromuscular disorders : NMD, 1991, Vol.1 (6), p.393-396

Yates, John R.W.

1991

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Genetic counselling in X-linked ocular albinism : Clinical features of the carrier state

Eye (London), 1992, Vol.6 (1), p.75-79

1992

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The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

Human molecular genetics, 1994-10, Vol.3 (10), p.1833-1834

1994

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Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the Tuberous Sclerosis 2000 Study

X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits

Age-related macular degeneration and the complement system

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

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

Age related macular degeneration and sun exposure, iris colour, and skin sensitivity to sunlight

Genetic susceptibility to age related macular degeneration

Clinical and molecular genetics of Stickler syndrome

Evaluation of questionnaire on cancer family history in identifying patients at increased genetic risk in general practice

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients

Tuberous sclerosis presenting in late adult life

Second-trimester maternal serum screening using alpha-fetoprotein, human chorionic gonadotrophin, and unconjugated oestriol: Experience of a regional programme

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocenteses

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

Loss of heterozygosity in tuberous sclerosis hamartomas

X linked retinoschisis

Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects?

Von Hippel-Lindau disease: a genetic study

European Workshop on Emery-Dreifuss Muscular Dystrophy 1991

Genetic counselling in X-linked ocular albinism : Clinical features of the carrier state

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

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