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115 results on '"Melançon, Serge"'

1. The Québec NTBC Study

Author

The Québec NTBC Study Group, Alvarez, Fernando, Atkinson, Suzanne, Bouchard, Manon, Brunel-Guitton, Catherine, Buhas, Daniela, Bussières, Jean-François, Dubois, Josée, Fenyves, Daphna, Goodyer, Paul, Gosselin, Martyne, Halac, Ugur, Labbé, Patrick, Laframboise, Rachel, Maranda, Bruno, Melançon, Serge, Merouani, Aicha, Mitchell, Grant A., Mitchell, John, Parizeault, Guy, Pelletier, Luc, Phan, Véronique, Turcotte, Jean-François, COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, and Tanguay, Robert M., editor

Published
2017
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2. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C

Author

Mirchi, Amytice, primary, Guay, Simon-Pierre, additional, Tran, Luan T, additional, Wolf, Nicole I, additional, Vanderver, Adeline, additional, Brais, Bernard, additional, Sylvain, Michel, additional, Pohl, Daniela, additional, Rossignol, Elsa, additional, Saito, Michael, additional, Moutton, Sebastien, additional, González-Gutiérrez-Solana, Luis, additional, Thiffault, Isabelle, additional, Kruer, Michael C, additional, Moron, Dolores Gonzales, additional, Kauffman, Marcelo, additional, Goizet, Cyril, additional, Sztriha, László, additional, Glamuzina, Emma, additional, Melançon, Serge B, additional, Naidu, Sakkubai, additional, Retrouvey, Jean-Marc, additional, Lacombe, Suzanne, additional, Bernardino-Cuesta, Beatriz, additional, De Bie, Isabelle, additional, and Bernard, Geneviève, additional

Published
2023
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4. Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

Author

Martinelli, Simone, Stellacci, Emilia, Pannone, Luca, DʼAgostino, Daniela, Consoli, Federica, Lissewski, Christina, Silvano, Marianna, Cencelli, Giulia, Lepri, Francesca, Maitz, Silvia, Pauli, Silke, Rauch, Anita, Zampino, Giuseppe, Selicorni, Angelo, Melançon, Serge, Digilio, Maria C., Gelb, Bruce D., De Luca, Alessandro, Dallapiccola, Bruno, Zenker, Martin, and Tartaglia, Marco

Published
2015
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6. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Author

Pelletier, Félixe, primary, Perrier, Stefanie, additional, Cayami, Ferdy K, additional, Mirchi, Amytice, additional, Saikali, Stephan, additional, Tran, Luan T, additional, Ulrick, Nicole, additional, Guerrero, Kether, additional, Rampakakis, Emmanouil, additional, van Spaendonk, Rosalina M L, additional, Naidu, Sakkubai, additional, Pohl, Daniela, additional, Gibson, William T, additional, Demos, Michelle, additional, Goizet, Cyril, additional, Tejera-Martin, Ingrid, additional, Potic, Ana, additional, Fogel, Brent L, additional, Brais, Bernard, additional, Sylvain, Michel, additional, Sébire, Guillaume, additional, Lourenço, Charles Marques, additional, Bonkowsky, Joshua L, additional, Catsman-Berrevoets, Coriene, additional, Pinto, Pedro S, additional, Tirupathi, Sandya, additional, Strømme, Petter, additional, de Grauw, Ton, additional, Gieruszczak-Bialek, Dorota, additional, Krägeloh-Mann, Ingeborg, additional, Mierzewska, Hanna, additional, Philippi, Heike, additional, Rankin, Julia, additional, Atik, Tahir, additional, Banwell, Brenda, additional, Benko, William S, additional, Blaschek, Astrid, additional, Bley, Annette, additional, Boltshauser, Eugen, additional, Bratkovic, Drago, additional, Brozova, Klara, additional, Cimas, Icíar, additional, Clough, Christopher, additional, Corenblum, Bernard, additional, Dinopoulos, Argirios, additional, Dolan, Gail, additional, Faletra, Flavio, additional, Fernandez, Raymond, additional, Fletcher, Janice, additional, Garcia Garcia, Maria Eugenia, additional, Gasparini, Paolo, additional, Gburek-Augustat, Janina, additional, Gonzalez Moron, Dolores, additional, Hamati, Aline, additional, Harting, Inga, additional, Hertzberg, Christoph, additional, Hill, Alan, additional, Hobson, Grace M, additional, Innes, A Micheil, additional, Kauffman, Marcelo, additional, Kirwin, Susan M, additional, Kluger, Gerhard, additional, Kolditz, Petra, additional, Kotzaeridou, Urania, additional, La Piana, Roberta, additional, Liston, Eriskay, additional, McClintock, William, additional, McEntagart, Meriel, additional, McKenzie, Fiona, additional, Melançon, Serge, additional, Misbahuddin, Anjum, additional, Suri, Mohnish, additional, Monton, Fernando I, additional, Moutton, Sebastien, additional, Murphy, Raymond P J, additional, Nickel, Miriam, additional, Onay, Hüseyin, additional, Orcesi, Simona, additional, Özkınay, Ferda, additional, Patzer, Steffi, additional, Pedro, Helio, additional, Pekic, Sandra, additional, Pineda Marfa, Mercedes, additional, Pizzino, Amy, additional, Plecko, Barbara, additional, Poll-The, Bwee Tien, additional, Popovic, Vera, additional, Rating, Dietz, additional, Rioux, Marie-France, additional, Rodriguez Espinosa, Norberto, additional, Ronan, Anne, additional, Ostergaard, John R, additional, Rossignol, Elsa, additional, Sanchez-Carpintero, Rocio, additional, Schossig, Anna, additional, Senbil, Nesrin, additional, Sønderberg Roos, Laura K, additional, Stevens, Cathy A, additional, Synofzik, Matthis, additional, Sztriha, László, additional, Tibussek, Daniel, additional, Timmann, Dagmar, additional, Tonduti, Davide, additional, van de Warrenburg, Bart P, additional, Vázquez-López, Maria, additional, Venkateswaran, Sunita, additional, Wasling, Pontus, additional, Wassmer, Evangeline, additional, Webster, Richard I, additional, Wiegand, Gert, additional, Yoon, Grace, additional, Rotteveel, Joost, additional, Schiffmann, Raphael, additional, van der Knaap, Marjo S, additional, Vanderver, Adeline, additional, Martos-Moreno, Gabriel Á, additional, Polychronakos, Constantin, additional, Wolf, Nicole I, additional, and Bernard, Geneviève, additional

Published
2020
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12. Neurologic Crises in Hereditary Tyrosinemia

Author

Mitchell, Grant, Larochelle, Jean, Lambert, Marie, Michaud, Jean, Grenier, André, Ogier, Hélène, Gauthier, Marie, Lacroix, Jacques, Vanasse, Michel, Larbrisseau, Albert, Paradis, Khazal, Weber, Andrée, Lefevre, Yolande, Melançon, Serge, and Dallaire, Louis

Published
1990
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13. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Author

Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, and Bernard, Geneviève

Published
2021
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19. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

Author

Larochelle, Jean, primary, Alvarez, Fernando, additional, Bussières, Jean-François, additional, Chevalier, Isabelle, additional, Dallaire, Louis, additional, Dubois, Josée, additional, Faucher, Frédéric, additional, Fenyves, Daphna, additional, Goodyer, Paul, additional, Grenier, André, additional, Holme, Elisabeth, additional, Laframboise, Rachel, additional, Lambert, Marie, additional, Lindstedt, Sven, additional, Maranda, Bruno, additional, Melançon, Serge, additional, Merouani, Aicha, additional, Mitchell, John, additional, Parizeault, Guy, additional, Pelletier, Luc, additional, Phan, Véronique, additional, Rinaldo, Piero, additional, Scott, C. Ronald, additional, Scriver, Charles, additional, and Mitchell, Grant A., additional

Published
2012
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21. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

Author

Auray-Blais, Christiane, primary, Cyr, Denis, additional, Ntwari, Aimé, additional, West, Michael L., additional, Cox-Brinkman, Josanne, additional, Bichet, Daniel G., additional, Germain, Dominique P., additional, Laframboise, Rachel, additional, Melançon, Serge B., additional, Stockley, Tracy, additional, Clarke, Joe T.R., additional, and Drouin, Régen, additional

Published
2008
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22. Filamin A Mutation May Be Associated With Diffuse Lung Disease Mimicking Bronchopulmonary Dysplasia in Premature Newborns.

Author

Lord, Amanda, Shapiro, Adam J., Saint-Martin, Christine, Claveau, Martine, Melançon, Serge, and Wintermark, Pia

Subjects
BRAIN, RADIOGRAPHY, BRONCHOPULMONARY dysplasia, CHEST X rays, COMPUTED tomography, DIFFERENTIAL diagnosis, PREMATURE infants, LUNG diseases, MAGNETIC resonance imaging, GENETIC mutation
Abstract

Bronchopulmonary dysplasia (BPD) is a common long-term complication in premature newborns requiring ventilatory support and is the most common cause of chronic diffuse lung disease in this population. We present the clinical course of a premature newborn with a complicated neonatal respiratory course that was initially thought to be related to BPD, but it did not respond to the typical therapies for this condition. Due to the findings of periventricular nodular heterotopia, the diagnosis of a filamin A gene mutation was eventually made, which explained the respiratory pathology of this patient. When time of onset and clinical course do not correlate with typical BPD, one should consider alternative diagnoses in premature infants, including neonatal diffuse lung disease. [ABSTRACT FROM AUTHOR]

Published
2014
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24. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

Author

Engert, James C., primary, Bérubé, Pierre, additional, Mercier, Jocelyne, additional, Doré, Carole, additional, Lepage, Pierre, additional, Ge, Bing, additional, Bouchard, Jean-Pierre, additional, Mathieu, Jean, additional, Melançon, Serge B., additional, Schalling, Martin, additional, Lander, Eric S., additional, Morgan, Kenneth, additional, Hudson, Thomas J., additional, and Richter, Andrea, additional

Published
2000
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25. Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay (ARSACS): High-Resolution Physical and Transcript Map of the Candidate Region in Chromosome Region 13q11

Author

Engert, James C., primary, Doré, Carole, additional, Mercier, Jocelyne, additional, Ge, Bing, additional, Bétard, Christine, additional, Rioux, John D., additional, Owen, Carolyn, additional, Bérubé, Pierre, additional, Devon, Keri, additional, Birren, Bruce, additional, Melançon, Serge B., additional, Morgan, Kenneth, additional, Hudson, Thomas J., additional, and Richter, Andrea, additional

Published
1999
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26. Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

Author

Richter, Andrea, primary, Rioux, John D., additional, Bouchard, Jean-Pierre, additional, Mercier, Jocelyne, additional, Mathieu, Jean, additional, Ge, Bing, additional, Poirier, Josée, additional, Julien, Dominique, additional, Gyapay, Gabor, additional, Weissenbach, Jean, additional, Hudson, Thomas J., additional, Melançon, Serge B., additional, and Morgan, Kenneth, additional

Published
1999
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28. GAA Instability in Friedreich's Ataxia Shares a Common, DNA-Directed and Intraallelic Mechanism with Other Trinucleotide Diseases

Author

Gacy, A.Marquis, primary, Goellner, Geoffrey M, additional, Spiro, Craig, additional, Chen, Xian, additional, Gupta, Goutam, additional, Bradbury, E.Morton, additional, Dyer, Roy B, additional, Mikesell, Marci J, additional, Yao, Janet Z, additional, Johnson, Aaron J, additional, Richter, Andrea, additional, Melançon, Serge B, additional, and McMurray, Cynthia T, additional

Published
1998
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30. Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Author

Montermini, Laura, primary, Richeter, Andrea, additional, Morgan, Kenneth, additional, Justice, Cristina M., additional, Julien, Dominique, additional, Castellotti, Barbara, additional, Mercier, Jocelyne, additional, Poirier, Josée, additional, Capozzoli, Fiorentino, additional, Bouchard, Jean-Pierre, additional, Lemieux, Bernard, additional, Mathieu, Jean, additional, Vanasse, Michel, additional, Seni, Marie-Hélene, additional, Graham, Gail, additional, Andermann, Frederick, additional, Andermann, Eva, additional, Melançon, Serge B., additional, Keats, Bronya J. B., additional, Di Donato, Stefano, additional, and Pandolfo, Massimo, additional

Published
1997
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40. Compound heterozygous deletions of PMP22causing severe CharcotMarieTooth disease of the DejerineSottas disease phenotypeHow to cite this article: AlThihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM. 2008. Compound heterozygous deletions of PMP22causing severe CharcotMarieTooth disease of the DejerineSottas disease phenotype. Am J Med Genet Part A 146A:2412–2416.

Author

AlThihli, Khalid, Rudkin, Teresa, Carson, Nancy, Poulin, Chantal, Melançon, Serge, and Der Kaloustian, Vazken M.

Abstract

DejerineSottas disease DSD is a particular phenotype of the CharcotMarieTooth CMT disease spectrum that is genetically heterogeneous. It represents a severe form of hypertrophic axonal and demyelinating neuropathy. Although it is predominantly inherited as an autosomal recessive condition, autosomal dominant inheritance has also been described. To date, the autosomal recessive forms of DSD are classified into several CMT type 4 CMT4 subclasses based on allelic heterogeneity. We present a 7yearold boy with a severe form of CMT disease consistent with the autosomal recessive phenotype of DSD. He was found to be a compound heterozygote for mutations in the PMP22gene resulting in homozygous deletion of exons 2 and 3. The maternally inherited allele was the typical 1.5 Mb deletion involving PMP22seen with hereditary neuropathy with liability to pressure palsy HNPP. The paternally inherited allele was a deletion of exons 2 and 3. Both parents presented with a typical clinical picture of HNPP. To our knowledge, this is the first patient reported with large deletions involving both PMP22alleles. Our patient has also developed severe gastroesophageal reflux disease GERD, a clinical feature not previously reported with CMT or DSD. The correlation of the phenotype and the molecular defects observed in this patient may set a new subcategory in the classification of DSD. © 2008 WileyLiss, Inc.

Published
2008
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41. Clinical spectrum of infantile free sialic acid storage disease

Author

Lemyre, Emmanuelle, Russo, Pierre, Melançon, Serge B., Gagné, R., Potier, Michel, and Lambert, Marie

Abstract

Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: an infant with nephrotic syndrome, a case of fetal and neonatal ascites with heart failure, and a case of fetal ascites with esophageal atresia type III. From these patients and a review of the literature (27 cases total) we draw the following conclusions. 1) “Coarse facies,” fair complexion, hepatosplenomegaly, and severe psychomotor retardation are constant findings in this disorder. 2) Nephrotic syndrome occurred in most cases (four in seven) in which renal evaluation was performed. Therefore, ISSD is an important cause of nephrosis in infants with a storage disorder phenotype. 3) Fetal/neonatal ascites or hydrops was the mode of presentation in 13 (60%) of 21 cases. Thus, ISSD enters in the differential diagnosis of hydrops fetalis with a storage disease phenotype. 4) Cardiomegaly was evident in nine cases. 5) Corneae were always clear, and albinoid fundi were reported in five cases. 6) Dysostosis multiplex was not prominent. 7) Bone marrow aspiration could be negative. 8) Death ensued in early infancy with a mean age of 13.1 months. All reported deaths were caused by respiratory infections. Am. J. Med. Genet. 82:385–391, 1999. © 1999 Wiley-Liss, Inc.

Published
1999
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42. Differential Stabilities of Fetal Intestinal Disaccharidases Determine Their Relative Amounts Released into Amniotic Fluid

Author

Potier, Michel, Morin, Pierre-R., Melançon, Serge B., and Dallaire, Louis

Abstract

Comparison of relative disaccharidase activities in jejunal mucosa, amniotic fluid, and meconium samples taken from the ileum, proximal and distal colon of 5 human fetuses, indicates that trehalase and lactase are more sensitive to the denaturation conditions existing in the fetal intestinal lumen than maltase, sucrase, palatinase and turanase. Relative activities of sensitive disaccharidases (trehalase and lactase) were also low in the amniotic fluid of these fetuses as compared to the jejunal mucosa. These results suggest that the in vivo stability of disaccharidases, exposed to proteolytic digestion and other denaturing conditions in the fetal intestinal lumen, governs the relative activities of these enzymes released into the amniotic fluid.

Published
1984
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