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Population history and its impact on medical genetics in Quebec

Clinical genetics, 2005-10, Vol.68 (4), p.287-301

2005

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Statistical shape analysis and computational modeling reveal novel relationships between tibiofemoral bony geometry and knee mechanics in young, female athletes

Journal of biomechanics, 2024-04, Vol.167, p.112030-112030, Article 112030

2024

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Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry

Prostaglandins, leukotrienes and essential fatty acids, 2004-03, Vol.70 (3), p.243-251

2004

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Identification of a Gene Causing Human Cytochrome c Oxidase Deficiency by Integrative Genomics

Proceedings of the National Academy of Sciences - PNAS, 2003-01, Vol.100 (2), p.605-610

2003

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Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

Clinical genetics, 2017-09, Vol.92 (3), p.306-317

2017

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Carboxylesterase 3 (EC 3.1.1.1) Is a Major Adipocyte Lipase

The Journal of biological chemistry, 2004-09, Vol.279 (39), p.40683-40689

2004

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Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

Human molecular genetics, 2001-07, Vol.10 (14), p.1465-1473

2001

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Odour concentration affects odour identity in honeybees

Proceedings of the Royal Society. B, Biological sciences, 2005-11, Vol.272 (1579), p.2417-2422

2005

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The Adipose Tissue Phenotype of Hormone-Sensitive Lipase Deficiency in Mice

Obesity (Silver Spring, Md.), 2001-02, Vol.9 (2), p.119-128

2001

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Illegal use of beta-adrenergic agonists in the United States

Journal of animal science, 1998-01, Vol.76 (1), p.208

1998

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L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2

American Journal of Physiology: Cell Physiology, 2004-08, Vol.287 (2), p.C263-C269

2004

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Carnitine Transport by Organic Cation Transporters and Systemic Carnitine Deficiency

Molecular Genetics and Metabolism, 2001-08, Vol.73 (4), p.287-297

2001

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A role for hormone-sensitive lipase in glucose-stimulated insulin secretion : A study in hormone-sensitive lipase-deficient mice

Diabetes (New York, N.Y.), 2001-09, Vol.50 (9), p.1970-1975

2001

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Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Nature genetics, 1999-06, Vol.22 (2), p.151-158

1999

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Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I

Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.16-21

2006

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Tyrosinemia: a review

Pediatric and developmental pathology, 2001-05, Vol.4 (3), p.212-221

2001

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Hormone-Sensitive Lipase Has a Role in Lipid Signaling for Insulin Secretion but Is Nonessential for the Incretin Action of Glucagon-Like Peptide 1

Diabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1733-1742

2004

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Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis

Experimental cell research, 2005-12, Vol.311 (2), p.218-228

2005

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Hormone-sensitive lipase-independent adipocyte lipolysis during beta-adrenergic stimulation, fasting, and dietary fat loading

American journal of physiology: endocrinology and metabolism, 2004-08, Vol.287 (2), p.E282-E288

2004

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Molecular prenatal diagnosis of 3-hydroxy−3-methylglutaryl coa lyase deficiency

Prenatal diagnosis, 1995-08, Vol.15 (8), p.725-729

1995

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Expression of Human Hormone-Sensitive Lipase (HSL) in Postmeiotic Germ Cells Confers Normal Fertility to HSL-Deficient Mice

Endocrinology (Philadelphia), 2004-12, Vol.145 (12), p.5688-5693

2004

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Human hormone-sensitive lipase (HSL): expression in white fat corrects the white adipose phenotype of HSL-deficient mice

Journal of lipid research, 2005-09, Vol.46 (9), p.1860-1867

2005

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Enzymes of ketone body utilization in human tissues : Protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases

Pediatric research, 1997-10, Vol.42 (4), p.498-502

1997

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L-Carnitine transport in mouse renal and intestinal brush-border and basolateral membrane vesicles

Biochimica et biophysica acta, 2002-01, Vol.1558 (1), p.82-93

2002

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Evaluation of 3-Hydroxy-3-methylglutaryl-Coenzyme A Lyase Arginine-41 as a Catalytic Residue: Use of Acetyldithio-Coenzyme A To Monitor Product Enolization

Biochemistry (Easton), 2004-05, Vol.43 (18), p.5287-5295

2004

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Population history and its impact on medical genetics in Quebec

Statistical shape analysis and computational modeling reveal novel relationships between tibiofemoral bony geometry and knee mechanics in young, female athletes

Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry

Identification of a Gene Causing Human Cytochrome c Oxidase Deficiency by Integrative Genomics

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

Carboxylesterase 3 (EC 3.1.1.1) Is a Major Adipocyte Lipase

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

Odour concentration affects odour identity in honeybees

The Adipose Tissue Phenotype of Hormone-Sensitive Lipase Deficiency in Mice

Illegal use of beta-adrenergic agonists in the United States

L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2

Carnitine Transport by Organic Cation Transporters and Systemic Carnitine Deficiency

A role for hormone-sensitive lipase in glucose-stimulated insulin secretion : A study in hormone-sensitive lipase-deficient mice

Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I

Tyrosinemia: a review

Hormone-Sensitive Lipase Has a Role in Lipid Signaling for Insulin Secretion but Is Nonessential for the Incretin Action of Glucagon-Like Peptide 1

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis

Hormone-sensitive lipase-independent adipocyte lipolysis during beta-adrenergic stimulation, fasting, and dietary fat loading

Molecular prenatal diagnosis of 3-hydroxy−3-methylglutaryl coa lyase deficiency

Expression of Human Hormone-Sensitive Lipase (HSL) in Postmeiotic Germ Cells Confers Normal Fertility to HSL-Deficient Mice

Human hormone-sensitive lipase (HSL): expression in white fat corrects the white adipose phenotype of HSL-deficient mice

Enzymes of ketone body utilization in human tissues : Protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases

L-Carnitine transport in mouse renal and intestinal brush-border and basolateral membrane vesicles

Evaluation of 3-Hydroxy-3-methylglutaryl-Coenzyme A Lyase Arginine-41 as a Catalytic Residue: Use of Acetyldithio-Coenzyme A To Monitor Product Enolization

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