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Human Mendelian pain disorders: a key to discovery and validation of novel analgesics

Clinical genetics, 2012-10, Vol.82 (4), p.367-373

2012

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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

Clinical genetics, 2007-04, Vol.71 (4), p.311-319

2007

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Genomewide Genetic Linkage Analysis Confirms the Presence of Susceptibility Loci for Schizophrenia, on Chromosomes 1q32.2, 5q33.2, and 8p21-22 and Provides Support for Linkage to Schizophrenia, on Chromosomes 11q23.3-24 and 20q12.1-11.23

American journal of human genetics, 2001-03, Vol.68 (3), p.661-673

2001

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A genome-wide scan points to a susceptibility locus for bipolar disorder on chromosome 12

Molecular psychiatry, 2005-06, Vol.10 (6), p.545-552

2005

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Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

Human molecular genetics, 1998-01, Vol.7 (1), p.43-51

1998

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P39 Nutritional assessments in COPD: the respiratory nurse perspective on current practice across the UK

Thorax, 2011-12, Vol.66 (Suppl 4), p.A83-A84

2011

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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

Nature (London), 1995-06, Vol.375 (6534), p.754-760

1995

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Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

Nature (London), 1995-08, Vol.376 (6543), p.775-778

1995

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C.1 The molecular diagnostic landscape of children with seizure onset in the first three years of life

Canadian journal of neurological sciences, 2023-06, Vol.50 (s2), p.S51-S51

2023

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Alzheimer's Disease Associated with Mutations in Presenilin 2 is Rare and Variably Penetrant

Human molecular genetics, 1996-07, Vol.5 (7), p.985-988

1996

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Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease

Genomics (San Diego, Calif.), 1997-03, Vol.40 (3), p.415-424

1997

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Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

Human molecular genetics, 1995-07, Vol.4 (7), p.1137-1146

1995

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Standardised ("plain") packaging of cigarettes regulations must be passed before the general election

BMJ (Online), 2014-12, Vol.349, p.g7751

2014

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No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins

Human genetics, 1998-07, Vol.103 (1), p.41-47

1998

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A Schizophrenia-Susceptibility Locus at 6q25, in One of the World's Largest Reported Pedigrees

American journal of human genetics, 2001-07, Vol.69 (1), p.96-105

2001

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Conservation of Synteny between the Genome of the Pufferfish (Fugu rubripes) and the Region on Human Chromosome 14 (14q24.3) Associated with Familial Alzheimer Disease (AD3 Locus)

Proceedings of the National Academy of Sciences - PNAS, 1996-02, Vol.93 (4), p.1366-1369

1996

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Reponses of human V6 to random motion, egomotion_incompatible and egomotion-compatible optic flow

Journal of vision (Charlottesville, Va.), 2011-09, Vol.11 (11), p.711-711

2011

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Failure to establish linkage on the X chromosome in 301 families with schizophrenia or schizoaffective disorder

American journal of medical genetics, 2000-06, Vol.96 (3), p.335-341

2000

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Demonstration of cerebral perfusion abnormalities in moyamoya disease using susceptibility perfusion- and diffusion-weighted MRI

Neuroradiology, 1999-02, Vol.41 (2), p.86-92

1999

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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

Nature (London), 1995-06, Vol.375 (6534), p.754-760

1995

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A genome-wide search for schizophrenia susceptibility genes

American journal of medical genetics, 1998-09, Vol.81 (5), p.364-376

1998

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Cloning of the Human Dopamine D5 Receptor Gene and Identification of a Highly Polymorphic Microsatellite for the DRD5 Locus That Shows Tight Linkage to the Chromosome 4p Reference Marker RAF1P1

Genomics (San Diego, Calif.), 1993-11, Vol.18 (2), p.423-425

1993

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Human Mendelian pain disorders: a key to discovery and validation of novel analgesics

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

Genomewide Genetic Linkage Analysis Confirms the Presence of Susceptibility Loci for Schizophrenia, on Chromosomes 1q32.2, 5q33.2, and 8p21-22 and Provides Support for Linkage to Schizophrenia, on Chromosomes 11q23.3-24 and 20q12.1-11.23

A genome-wide scan points to a susceptibility locus for bipolar disorder on chromosome 12

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

P39 Nutritional assessments in COPD: the respiratory nurse perspective on current practice across the UK

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

C.1 The molecular diagnostic landscape of children with seizure onset in the first three years of life

Alzheimer's Disease Associated with Mutations in Presenilin 2 is Rare and Variably Penetrant

Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

Standardised ("plain") packaging of cigarettes regulations must be passed before the general election

Identification of a Novel Gene ( HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice

A Schizophrenia-Susceptibility Locus at 6q25, in One of the World's Largest Reported Pedigrees

Conservation of Synteny between the Genome of the Pufferfish (Fugu rubripes) and the Region on Human Chromosome 14 (14q24.3) Associated with Familial Alzheimer Disease (AD3 Locus)

Reponses of human V6 to random motion, egomotion_incompatible and egomotion-compatible optic flow

Failure to establish linkage on the X chromosome in 301 families with schizophrenia or schizoaffective disorder

Intergenerational Instability of the CAG Repeat of the Gene for Machado-Joseph Disease (MJD1) is Affected by the Genotype of the Normal Chromosome: Implications for the Molecular Mechanisms of the Instability of the CAG Repeat

Demonstration of cerebral perfusion abnormalities in moyamoya disease using susceptibility perfusion- and diffusion-weighted MRI

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

A genome-wide search for schizophrenia susceptibility genes

Cloning of the Human Dopamine D5 Receptor Gene and Identification of a Highly Polymorphic Microsatellite for the DRD5 Locus That Shows Tight Linkage to the Chromosome 4p Reference Marker RAF1P1

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