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A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23

Brain (London, England : 1878), 2007-07, Vol.130 (7), p.1921-1928

2007

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Mapping susceptibility genes for bipolar disorder : a pharmacogenetic approach based on excellent response to lithium

Molecular psychiatry, 2001-09, Vol.6 (5), p.570-578

2001

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Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31

European journal of human genetics : EJHG, 2003-10, Vol.11 (10), p.770-778

2003

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Homozygosity mapping of a third Joubert syndrome locus to 6q23

Journal of medical genetics, 2004-04, Vol.41 (4), p.273-277

2004

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Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

American journal of human genetics, 2001-04, Vol.68 (4), p.1048-1054

2001

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Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease

Journal of medical genetics, 2004-12, Vol.41 (12), p.900-907

2004

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Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14

Molecular psychiatry, 2006-07, Vol.11 (7), p.685-694

2006

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Genome screen in the French EGEA study: detection of linked regions shared or not shared by allergic rhinitis and asthma

Genes and immunity, 2005-03, Vol.6 (2), p.95-102

2005

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Distribution of brain cytochrome oxidase activity in various neurodegenerative diseases

Neuroreport, 1995-03, Vol.6 (5), p.711-715

1995

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Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

The Lancet (British edition), 1993-05, Vol.341 (8856), p.1303-1306

1993

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Localization of a Recessive Gene for North American Indian Childhood Cirrhosis to Chromosome Region 16q22—and Identification of a Shared Haplotype

American journal of human genetics, 2000-07, Vol.67 (1), p.222-228

2000

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Apo E allele frequencies in Alzheimerʼs disease, Lewy body dementia, Alzheimerʼs disease with cerebrovascular disease and vascular dementia

Neuroreport, 1994-10, Vol.5 (15), p.1893-1896

1994

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Molecular scanning of the human PPARα gene: association of the L162V mutation with hyperapobetalipoproteinemia

Journal of lipid research, 2000-06, Vol.41 (6), p.945-952

2000

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Safety and immunogenicity of the two-dose heterologous Ad26.ZEBOV and MVA-BN-Filo Ebola vaccine regimen in infants: a phase 2, randomised, double-blind, active-controlled trial in Guinea and Sierra Leone

The Lancet global health, 2023-11, Vol.11 (11), p.e1743-e1752

2023

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A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

Brain (London, England : 1878), 2004-09, Vol.127 (9), p.1979-1992

2004

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Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

American journal of human genetics, 2007-02, Vol.80 (2), p.265-272

Anon

2007

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Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians

Human genetics, 1992-03, Vol.88 (5), p.529-536

1992

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Influence of genetic variability in the nondeletion LDL-receptor allele on phenotypic variation in French-Canadian familial hypercholesterolemia heterozygotes sharing a ‘null’ LDL-receptor gene defect

Atherosclerosis, 1996-01, Vol.119 (1), p.43-55

1996

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Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13

Circulation (New York, N.Y.), 2005-07, Vol.112 (2), p.200-206

2005

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Patterns of association between genetic variability in apolipoprotein (apo) B, apo AI-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones

American journal of human genetics, 1992-01, Vol.50 (1), p.92-106

1992

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Identification of a second "French Canadian" LDL receptor gene deletion and development of a rapid method to detect both deletions

Clinical genetics, 1989-10, Vol.36 (4), p.219-228

1989

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Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-07, Vol.136B (1), p.72-74

2005

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Phenotypic Heterogeneity Associated with Defective Apolipoprotein B-100 and Occurrence of the Familial Hypercholesterolemia Phenotype in the Absence of an LDL-Receptor Defect within a Canadian Kindred

European journal of epidemiology, 1992-05, Vol.8 (S1), p.10-17

1992

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Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families

Human molecular genetics, 2004-12, Vol.13 (24), p.3103-3113

2004

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Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia

Journal of lipid research, 2000-06, Vol.41 (6), p.945-952

2000

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A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23

Mapping susceptibility genes for bipolar disorder : a pharmacogenetic approach based on excellent response to lithium

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31

Homozygosity mapping of a third Joubert syndrome locus to 6q23

Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease

Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14

Genome screen in the French EGEA study: detection of linked regions shared or not shared by allergic rhinitis and asthma

Distribution of brain cytochrome oxidase activity in various neurodegenerative diseases

Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

Localization of a Recessive Gene for North American Indian Childhood Cirrhosis to Chromosome Region 16q22—and Identification of a Shared Haplotype

Apo E allele frequencies in Alzheimerʼs disease, Lewy body dementia, Alzheimerʼs disease with cerebrovascular disease and vascular dementia

Molecular scanning of the human PPARα gene: association of the L162V mutation with hyperapobetalipoproteinemia

Safety and immunogenicity of the two-dose heterologous Ad26.ZEBOV and MVA-BN-Filo Ebola vaccine regimen in infants: a phase 2, randomised, double-blind, active-controlled trial in Guinea and Sierra Leone

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians

Influence of genetic variability in the nondeletion LDL-receptor allele on phenotypic variation in French-Canadian familial hypercholesterolemia heterozygotes sharing a ‘null’ LDL-receptor gene defect

Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13

Patterns of association between genetic variability in apolipoprotein (apo) B, apo AI-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones

Identification of a second "French Canadian" LDL receptor gene deletion and development of a rapid method to detect both deletions

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

Phenotypic Heterogeneity Associated with Defective Apolipoprotein B-100 and Occurrence of the Familial Hypercholesterolemia Phenotype in the Absence of an LDL-Receptor Defect within a Canadian Kindred

Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families

Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia

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