Serge B. Melançon - Concepedia

Author

Serge B. Melançon

Centre Hospitalier Universitaire Sainte-Justine

Also Known As

Bruno Maranda, Serge B Melancon, Serge B Melançon, Serge B. Melancon, Serge B. Melançon, Serge B. Mélancon, Serge Melancon, Serge Melançon

Publications

3.5K

Citations

H-Index

Concepts

All Affiliations

Centre Hospitalier Universitaire Sainte-Justine McGill University Université de Montréal Montreal Children's Hospital McGill University Health Centre

About

Serge B. Melançon is an author at Centre Hospitalier Universitaire Sainte-Justine specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	27	2.8K
2	Natural Sciences	2	2	217
3	Engineering	1	1	131
4	Health Sciences	1	1	63
5	Public Health	1	1	442

Serge B. Melançon

Publications

3.3K

Citations

H-Index

Page 1

	Year	Citations
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF James C. Engert, Pierre Bérubé, Jocelyne Mercier, Nature Genetics Genetic DisorderGeneticsNew GeneGenetic EpidemiologySpastic Ataxia	2000	434
Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion Laura Montermini, Andrea Richeter, Kenneth Morgan, Annals of Neurology Genotype-phenotype CorrelationsClinical DisordersRare DiseasesMendelian DisorderGenetic Disorder	1997	270
Neurologic Crises in Hereditary Tyrosinemia Grant A. Mitchell, Jean Larochelle, Marie Lambert, New England Journal of Medicine Hereditary TyrosinemiaNeurological DisorderGenetic DisorderHereditary Tyrosinemia ResultsInherited Metabolic Disease	1990	233
GAA Instability in Friedreich's Ataxia Shares a Common, DNA-Directed and Intraallelic Mechanism with Other Trinucleotide Diseases A. Marquis Gacy, Geoffrey M. Goellner, Craig Spiro, Molecular Cell Other Trinucleotide DiseasesNeurodegenerative DiseasesGenome InstabilityGaa InstabilityGenetic Disorder	1998	172
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec Jean Larochelle, Fernando Álvarez, Jean‐François Bussières, Molecular Genetics and Metabolism Clinical CourseHepatologyPharmacologyHepatitisMedicine	2012	139
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea Andreas Janecke, Peter Heinz‐Erian, Jianyi Yin, Human Molecular Genetics EngineeringGeneticsGenetic EpidemiologyGastroenterologyPathology	2015	131
Free malondialdehyde determination in human plasma by high-performance liquid chromatography C Largillière, Serge B. Melançon Analytical Biochemistry BiochemistryGas ChromatographyMedicineBioanalysisAnalytical Chemistry	1988	116
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease Christiane Auray‐Blais, Denis Cyr, Aimé Ntwari, Molecular Genetics and Metabolism Urinary Globotriaosylceramide ExcretionUrologyFabry DiseaseInherited Metabolic DiseaseMedicine	2007	96
Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11 Andréa Richter, John D. Rioux, Jean‐Pierre Bouchard, The American Journal of Human Genetics Mendelian DisorderLocation ScoreGenetic DisorderGeneticsGenetic Epidemiology	1999	91

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