Search Results - "Melancon, S B" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

by Lepage, Pierre, Engert, James C, Bérubé, Pierre, Lander, Eric S, Mercier, Jocelyne, Mathieu, Jean, Bouchard, Jean-Pierre, Doré, Carole, Melançon, Serge B, Richter, Andrea, Morgan, Kenneth, Hudson, Thomas J, Ge, Bing, Schalling, Martin
Published in Nature genetics (01.02.2000)

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Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

by Montermini, L, Richter, A, Morgan, K, Justice, C M, Julien, D, Castellotti, B, Mercier, J, Poirier, J, Capozzoli, F, Bouchard, J P, Lemieux, B, Mathieu, J, Vanasse, M, Seni, M H, Graham, G, Andermann, F, Andermann, E, Melançon, S B, Keats, B J, Di Donato, S, Pandolfo, M
Published in Annals of neurology (01.05.1997)

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Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

by Richter, Andrea, Rioux, John D., Bouchard, Jean-Pierre, Mercier, Jocelyne, Mathieu, Jean, Ge, Bing, Poirier, Josée, Julien, Dominique, Gyapay, Gabor, Weissenbach, Jean, Hudson, Thomas J., Melançon, Serge B., Morgan, Kenneth
Published in American journal of human genetics (01.03.1999)

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Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS): High-Resolution Physical and Transcript Map of the Candidate Region in Chromosome Region 13q11

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS): High-Resolution Physical and Transcript Map of the Candidate Region in Chromosome Region 13q11

by Engert, James C., Doré, Carole, Mercier, Jocelyne, Ge, Bing, Bétard, Christine, Rioux, John D., Owen, Carolyn, Bérubé, Pierre, Devon, Keri, Birren, Bruce, Melançon, Serge B., Morgan, Kenneth, Hudson, Thomas J., Richter, Andrea
Published in Genomics (San Diego, Calif.) (01.12.1999)

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Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid

Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid

by Dallaire, L, Mitchell, G, Giguère, R, Lefebvre, F, Melançon, S B, Lambert, M
Published in Prenatal diagnosis (01.09.1995)

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An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

by MCINNES, B, POTIER, M, WAKAMATSU, N, MELANCON, S. B, KLAVINS, M. H, TSUJI, S, MAHURAN, D. J
Published in The Journal of clinical investigation (01.08.1992)

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Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-α- d- N-acetylneuraminate) substrate

Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-α- d- N-acetylneuraminate) substrate

by Potier, M., Mameli, L., Bélisle, M., Dallaire, L., Melançon, S.B.
Published in Analytical biochemistry (15.04.1979)

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Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk

Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk

by Dallaire, L, Michaud, J, Melancon, S B, Potier, M, Lambert, M, Mitchell, G, Boisvert, J
Published in Prenatal diagnosis (01.08.1991)

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Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): Confirmation of close linkage to D5S39 in French Canadian families

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): Confirmation of close linkage to D5S39 in French Canadian families

by Simard, Louise R., Vanasse, Michel, Rochette, Camille, Morgan, Kenneth, Lemieux, Bernard, Melançon, Serge B., Labuda, Damian
Published in Genomics (San Diego, Calif.) (01.09.1992)

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Alu-PCR combined with non-Alu primers reveals multiple polymorphic loci

Alu-PCR combined with non-Alu primers reveals multiple polymorphic loci

by Tang, J Q, Korab-Laskowska, M, Jarnik, M, Cardinal, G, Vanasse, M, Melançon, S B, Labuda, D
Published in Mammalian genome (01.05.1995)

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Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease)

Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease)

by Modigliani, R, Lemann, M, Melançon, S B, Mikol, J, Potier, M, Salmeron, M, Said, G, Poitras, P
Published in Gastroenterology (New York, N.Y. 1943) (01.03.1994)

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GAA Instability in Friedreich's Ataxia Shares a Common, DNA-Directed and Intraallelic Mechanism with Other Trinucleotide Diseases

GAA Instability in Friedreich's Ataxia Shares a Common, DNA-Directed and Intraallelic Mechanism with Other Trinucleotide Diseases

by Gacy, A.Marquis, Goellner, Geoffrey M, Spiro, Craig, Chen, Xian, Gupta, Goutam, Bradbury, E.Morton, Dyer, Roy B, Mikesell, Marci J, Yao, Janet Z, Johnson, Aaron J, Richter, Andrea, Melançon, Serge B, McMurray, Cynthia T
Published in Molecular cell (01.03.1998)

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Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe

Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe

by Sinnett, D, Lavergne, L, Melançon, S B, Dallaire, L, Potier, M, Labuda, D
Published in Human genetics (01.12.1988)

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Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec

by Simard, L R, Gingras, F, Delvoye, N, Vanasse, M, Melançon, S B, Labuda, D
Published in Human genetics (01.06.1992)

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Oral and dental development in X chromosome aneuploidy

Oral and dental development in X chromosome aneuploidy

by Farge, P, Dallaire, L, Albert, G, Melançon, S B, Potier, M, Leboeuf, G
Published in Clinical genetics (01.02.1985)

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Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy

Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy

by Ben-Yoseph, Y, Potier, M, Mitchell, D A, Pack, B A, Melançon, S B, Nadler, H L
Published in Biochemical journal (15.12.1987)

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Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures

Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures

by Hunter, T C, Melancon, S B, Dallaire, L, Taft, S, Skopek, T R, Albertini, R J, O'Neill, J P
Published in Somatic cell and molecular genetics (01.03.1996)

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Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

by Mitchell, Grant A., Watkins, David, Melançon, Serge B., Rosenblatt, David S., Geoffroy, Guy, Orquin, Jacqueline, Homsy, Magda Barsoum, Dallaire, Louis
Published in The Journal of pediatrics (01.03.1986)

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Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

by Richter, A, Morgan, K, Bouchard, J P, Poirier, J, Mercier, J, Gosselin, F, Melançon, S B
Published in Advances in neurology (1993)

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Origin and developmental patterns of lactase and other glycosidases in sheep amniotic and allantoic fluid

Origin and developmental patterns of lactase and other glycosidases in sheep amniotic and allantoic fluid

by Potier, M, Guay, P, Lamothe, P, Bousquet, D, Dallaire, L, Melançon, S B
Published in Journal of reproduction & fertility (01.09.1979)

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