Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 (2003)
Lefèvre, Caroline, Audebert, Stéphanie, Jobard, Florence, Bouadjar, Bakar, Lakhdar, Hakima, Boughdene-Stambouli, Omar, ...
Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been previously localized on chromosome 2q33-35. We report the identification of five missense...
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 (2003)
Lefèvre, Caroline, Audebert, Stéphanie, Jobard, Florence, Bouadjar, Bakar, Lakhdar, Hakima, Boughdene-Stambouli, Omar, ...
Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33–35. We report the identification of five missense mutations in...
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 (2003)
Lefèvre, Caroline, Audebert, Stéphanie, Jobard, Florence, Bouadjar, Bakar, Lakhdar, Hakima, Boughdene-Stambouli, Omar, ...
Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been previously localized on chromosome 2q33-35. We report the identification of five missense...
Lecompte, Odile, Ripp, Raymond, Puzos-Barbe, Valérie, Duprat, Simone, Heilig, Roland, Dietrich, Jacques, ...
Mutations in the gene encoding SLURP-1 in Mal de Meleda (2001)
Fischer, Judith, Bouadjar, Bakar, Heilig, Roland, Huber, Marcel, Lefèvre, Caroline, Jobard, Florence, ...
Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail...
Lecompte, Odile, Ripp, Raymond, Puzos-Barbe, Valérie, Duprat, Simone, Heilig, Roland, Dietrich, Jacques, ...
The complete genome sequence of the murine respiratory pathogen Mycoplasma pulmonis (2001)
Chambaud, Isabelle, Heilig, Roland, Ferris, Stéphane, Barbe, Valérie, Samson, Delphine, Galisson, Frédérique, ...
Mycoplasma pulmonis is a wall-less eubacterium belonging to the Mollicutes (trivial name, mycoplasmas) and responsible for murine respiratory diseases. The genome of strain UAB CTIP is composed of a...
Lecompte, Odile, Ripp, Raymond, Puzos-Barbe, Valérie, Duprat, Simone, Heilig, Roland, Dietrich, Jacques, ...
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease (1995)
Campion, Dominique, Flaman, Jean-Michel, Brice, Alexis, Hannequin, Didier, Dubois, Bruno, Martin, Cosette, ...
We analyzed 12 families with autosomal dominant early-onset Alzheimer's disease (EOAD) for mutations in the coding region of the presenilin I (PSNLI) gene corresponding to the AD3 locus on chromosome...
Koenig, Michel, Camerino, Giovanna, Heilig, Roland, Mandel, Jean-Louis
An X linked human DNA fragment (named DXS31) which detects partially homologous sequences on the Y chromosome has been isolated. Regional localisation of the two sex linked sequences was determined...
The complete genome sequence of the murine respiratory pathogen Mycoplasma pulmonis
Chambaud, Isabelle, Heilig, Roland, Ferris, Stéphane, Barbe, Valérie, Samson, Delphine, Galisson, Frédérique, ...
Mycoplasma pulmonis is a wall-less eubacterium belonging to the Mollicutes (trivial name, mycoplasmas) and responsible for murine respiratory diseases. The genome of strain UAB CTIP is composed of a...
Lecompte, Odile, Ripp, Raymond, Puzos-Barbe, Valérie, Duprat, Simone, Heilig, Roland, Dietrich, Jacques, ...
We have compared three complete genomes of closely related hyperthermophilic species of Archaea belonging to the Pyrococcus genus: Pyrococcus abyssi, Pyrococcus horikoshii, and Pyrococcus furiosus....
Lefèvre, Caroline, Jobard, Florence, Caux, Frédéric, Bouadjar, Bakar, Karaduman, Aysen, Heilig, Roland, ...
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in...
Saunier, Sophie, Calado, Joaquim, Benessy, France, Silbermann, Flora, Heilig, Roland, Weissenbach, Jean, ...
Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene,...
The complete genome sequence of the murine respiratory pathogen Mycoplasma pulmonis
Chambaud, Isabelle, Heilig, Roland, Ferris, Stéphane, Barbe, Valérie, Samson, Delphine, Galisson, Frédérique, ...
Mycoplasma pulmonis is a wall-less eubacterium belonging to the Mollicutes (trivial name, mycoplasmas) and responsible for murine respiratory diseases. The genome of strain UAB CTIP is composed of a...
Lecompte, Odile, Ripp, Raymond, Puzos-Barbe, Valérie, Duprat, Simone, Heilig, Roland, Dietrich, Jacques, ...
We have compared three complete genomes of closely related hyperthermophilic species of Archaea belonging to the Pyrococcus genus: Pyrococcus abyssi, Pyrococcus horikoshii, and Pyrococcus furiosus....
Lefèvre, Caroline, Jobard, Florence, Caux, Frédéric, Bouadjar, Bakar, Karaduman, Aysen, Heilig, Roland, ...
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in...
Saunier, Sophie, Calado, Joaquim, Benessy, France, Silbermann, Flora, Heilig, Roland, Weissenbach, Jean, ...
Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene,...
DNA Replication Origin Interference Increases the Spacing between Initiation Events in Human Cells
Lebofsky, Ronald, Heilig, Roland, Sonnleitner, Max, Weissenbach, Jean, Bensimon, Aaron
Mammalian DNA replication origins localize to sites that range from base pairs to tens of kilobases. A regular distribution of initiations in individual cell cycles suggests that only a limited...