Heterozygous TGFBR2 mutations in Marfan syndrome. (2007)
Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, ...
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at...
Heterozygous TGFBR2 mutations in Marfan syndrome. (2007)
Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, ...
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at...
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. (2007)
Collod, Gwenaëlle, Babron, Marie-Claude, Jondeau, Guillaume, Coulon, Monique, Weissenbach, Jean, Dubourg, Olivier, ...
Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on...
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. (2007)
Collod, Gwenaëlle, Babron, Marie-Claude, Jondeau, Guillaume, Coulon, Monique, Weissenbach, Jean, Dubourg, Olivier, ...
Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on...
CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice (2007)
Mário Gomes-Pereira, Laurent Foiry, Annie Nicole, Aline Huguet, Claudine Junien, Arnold Munnich, ...
Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1. Disease severity and age...
CTG trinucleotide repeat "big jumps": large expansions, small mice (2007)
Mário Gomes-Pereira, Laurent Foiry, Annie Nicole, Aline Huguet, Claudine Junien, Arnold Munnich, ...
Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease and myotonic dystrophy type 1. Disease severity and...
Épigénomique nutritionnelle du syndrome métabolique (2006)
Junien, Claudine, Gallou-Kabani, Catherine, Vigé, Alexandre, Gross, Marie-Sylvie
The importance of epigenetic alterations has been acknowledged in cancer for about two decades by an increasing number of molecular oncologists who contributed to deciphering the epigenetic codes and...
Épigénomique nutritionnelle du syndrome métabolique (2006)
Junien, Claudine, Gallou-Kabani, Catherine, Vigé, Alexandre, Gross, Marie-Sylvie
The importance of epigenetic alterations has been acknowledged in cancer for about two decades by an increasing number of molecular oncologists who contributed to deciphering the epigenetic codes and...
Épigénomique nutritionnelle du syndrome métabolique (2006)
Junien, Claudine, Gallou-Kabani, Catherine, Vigé, Alexandre, Gross, Marie-Sylvie
The importance of epigenetic alterations has been acknowledged in cancer for about two decades by an increasing number of molecular oncologists who contributed to deciphering the epigenetic codes and...
Épigénomique nutritionnelle du syndrome métabolique (2006)
Junien, Claudine, Gallou-Kabani, Catherine, Vigé, Alexandre, Gross, Marie-Sylvie
The importance of epigenetic alterations has been acknowledged in cancer for about two decades by an increasing number of molecular oncologists who contributed to deciphering the epigenetic codes and...
Kaput, Jim, Ordovas, José, Ferguson, Lynnette, Van Ommen, Ben, Rodríguez, Raymond, Allen, Lindsay, ...
Nutrigenomics is the study of how constituents of the diet interact with genes, and their products, to alter phenotype and, conversely, how genes and their products metabolise these constituents into...
Épigénomique nutritionnelle du syndrome métabolique (2005)
Junien, Claudine, Gallou-Kabani, Catherine, Vigé, Alexandre, Gross, Marie-Sylvie
The importance of epigenetic alterations has been acknowledged in cancer for about two decades by an increasing number of molecular oncologists who contributed to deciphering the epigenetic codes and...
Tabac : comprendre la dépendance pour agir (2004)
Abrous, Nora, Aubin, Henri Jean, Berlin, Ivan, Junien, Claudine, Kaminski, Monique, Le Foll, Bernard, ...
473 pages, tableaux, graphiques, figures, références bibliographiques disséminées
Mathilde Varret, Rochelle Thiart, Maritha J. Kotze, Heike Baron, Ana Cenarro, Olivier Descamps, ...
Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), a common autosomal dominant disorder. The LDLR database is a computerized tool that has been developed to provide...
Marfan Database (third edition): new mutations and new routines for the software (1997)
Lesley Ades, Cheryl Black, Maureen Boxer, Katherine J. Holman, Anne Paepe, ...
The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan...
CTG repeat instability and size variation timing in DNA repair-deficient mice
Savouret, Cédric, Brisson, Edith, Essers, Jeroen, Kanaar, Roland, Pastink, Albert, Te Riele, Hein, ...
Type 1 myotonic dystrophy is caused by the expansion of an unstable CTG repeat in the DMPK gene. We have investigated the molecular mechanisms underlying the CTG repeat instability by crossing...
Savouret, Cédric, Garcia-Cordier, Corinne, Megret, Jérôme, Te Riele, Hein, Junien, Claudine, Gourdon, Geneviève
Myotonic dystrophy type 1 is a neuromuscular affection associated with the expansion of an unstable CTG repeat in the DM protein kinase gene. The disease is characterized by somatic tissue-specific...
Boileau, Catherine, Jondeau, Guillaume, Babron, Marie-Claude, Coulon, Monique, Alexandre, Jeanne-Armelle, Sakai, Lynn, ...
We describe a large family with a connective-tissue disorder that exhibits some of the skeletal and cardiovascular features seen in Marfan syndrome. However, none of the 19 affected individuals...
CTG repeat instability and size variation timing in DNA repair-deficient mice
Savouret, Cédric, Brisson, Edith, Essers, Jeroen, Kanaar, Roland, Pastink, Albert, Te Riele, Hein, ...
Type 1 myotonic dystrophy is caused by the expansion of an unstable CTG repeat in the DMPK gene. We have investigated the molecular mechanisms underlying the CTG repeat instability by crossing...
Savouret, Cédric, Garcia-Cordier, Corinne, Megret, Jérôme, Te Riele, Hein, Junien, Claudine, Gourdon, Geneviève
Myotonic dystrophy type 1 is a neuromuscular affection associated with the expansion of an unstable CTG repeat in the DM protein kinase gene. The disease is characterized by somatic tissue-specific...
Boileau, Catherine, Jondeau, Guillaume, Babron, Marie-Claude, Coulon, Monique, Alexandre, Jeanne-Armelle, Sakai, Lynn, ...
We describe a large family with a connective-tissue disorder that exhibits some of the skeletal and cardiovascular features seen in Marfan syndrome. However, none of the 19 affected individuals...
CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice
Gomes-Pereira, Mário, Foiry, Laurent, Nicole, Annie, Huguet, Aline, Junien, Claudine, Munnich, Arnold, ...
Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1. Disease severity and age...
Fournet, Jean-Christophe, Mayaud, Christine, De Lonlay, Pascale, Gross-Morand, Marie-Sylvie, Verkarre, Virginie, Castanet, Mireille, ...
Congenital hyperinsulinism (CHI), previously named persistent hyperinsulinemic hypoglycemia of infancy, is characterized by profound hypoglycemia because of excessive insulin secretion. CHI presents...