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Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome

The Lancet (British edition), 1995-12, Vol.346 (8988), p.1458-1463

1995

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Wolfram (DIDMOAD) syndrome

Journal of medical genetics, 1997-10, Vol.34 (10), p.838-841

1997

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Optic atrophy in Wolfram (DIDMOAD) syndrome

Eye (London), 1997-01, Vol.11 (6), p.882-888

1997

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A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

American journal of human genetics, 1998-05, Vol.62 (5), p.1070-1076

1998

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Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

American journal of human genetics, 1998-05, Vol.62 (5), p.1123-1128

1998

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Unusual features in the inheritance of ataxia telangiectasia

Human genetics, 1990-05, Vol.84 (6), p.555-562

1990

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Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence

Journal of medical genetics, 1985-04, Vol.22 (2), p.85-91

1985

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A cytogenetic survey of a mentally retarded school-age population with special reference to fragile sites

Journal of mental deficiency research, 1987-03, Vol.31 ( Pt 1), p.61

1987

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A clinical and molecular genetic study of dentatorubropallidolyusian atrophy in four european families

Annals of neurology, 1995, Vol.37 (4), p.452-459

1995

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Single Amino Acid Mutation Contributes to Adaptive Beach Mouse Color Pattern

Science (American Association for the Advancement of Science), 2006-07, Vol.313 (5783), p.101-104

2006

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12-Lipoxygenase in Opioid-Induced Delayed Cardioprotection: Gene Array, Mass Spectrometric, and Pharmacological Analyses

Circulation research, 2003-04, Vol.92 (6), p.676-682

2003

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A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans

Human molecular genetics, 1997-06, Vol.6 (6), p.909-912

1997

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Fragile X syndrome is less common than previously estimated

Journal of medical genetics, 1997-01, Vol.34 (1), p.1-5

1997

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Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?

Journal of medical genetics, 1993-08, Vol.30 (8), p.651-654

1993

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X inactivation patterns in female monozygotic twins and their families

Journal of medical genetics, 1994-10, Vol.31 (10), p.754-757

1994

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ERG and EOG abnormalities in carriers of X-linked retinitis pigmentosa

Eye (London), 1996-01, Vol.10 (5), p.581-589

1996

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Mitochondrial abnormalities in the DIDMOAD syndrome

Journal of inherited metabolic disease, 1992-05, Vol.15 (3), p.315-319

1992

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Are abortions more or less frequent once prenatal diagnosis is available?

Journal of medical genetics, 1989-12, Vol.26 (12), p.794-796

1989

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Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families

Human genetics, 1985-01, Vol.71 (2), p.103-107

1985

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Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene

Quarterly journal of medicine, 1993-11, Vol.86 (11), p.709-713

1993

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Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome

Wolfram (DIDMOAD) syndrome

Optic atrophy in Wolfram (DIDMOAD) syndrome

A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

Unusual features in the inheritance of ataxia telangiectasia

Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence

A cytogenetic survey of a mentally retarded school-age population with special reference to fragile sites

A clinical and molecular genetic study of dentatorubropallidolyusian atrophy in four european families

Single Amino Acid Mutation Contributes to Adaptive Beach Mouse Color Pattern

12-Lipoxygenase in Opioid-Induced Delayed Cardioprotection: Gene Array, Mass Spectrometric, and Pharmacological Analyses

A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans

Fragile X syndrome is less common than previously estimated

Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?

X inactivation patterns in female monozygotic twins and their families

ERG and EOG abnormalities in carriers of X-linked retinitis pigmentosa

Mitochondrial abnormalities in the DIDMOAD syndrome

Are abortions more or less frequent once prenatal diagnosis is available?

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families

Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene

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