Search Results - "Grelet, Maude"

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders by Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

“…Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These…”
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Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic by Coste, Thibault, Hervé, Dominique, Neau, Jean Philippe, Jouvent, Eric, Ba, Fatoumata, Bergametti, Françoise, Lamy, Matthias, Cogez, Julien, Derache, Nathalie, Schneckenburger, Romain, Grelet, Maude, Gollion, Cédric, Lanotte, Livia, Lauer, Valérie, Layet, Valérie, Urbanczyk, Cédric, Didic, Mira, Raynouard, Igor, Delaval, Laure, Dassa, Jérémie, Florea, Alexandru, Badiu, Carmen, Nguyen, Karine, Tournier-Lasserve, Elisabeth

“…Heterozygous missense HTRA1 mutations have been associated with an autosomal dominant cerebral small vessel disease (CSVD) whereas the pathogenicity of…”
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SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation by Grelet, Maude, Mortreux, Jérémie, Alazard, Emilie, Sigaudy, Sabine, Philip, Nicole, Missirian, Chantal

“…Gonadal mosaicism has been reported in a variety of dominant or X-linked conditions and should be considered in all cases of apparent de-novo variation…”
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Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene by Billon, Clarisse, Molin, Arnaud, Poirsier, Céline, Clemenson, Alix, Dauge, Coralie, Grelet, Maude, Sigaudy, Sabine, Patrier, Sophie, Goldenberg, Alice, Layet, Valérie, Tantau, Julia, Fleury, Clémence, Liard, Agnès, Diguet, Alain, Fritih, Radia, Verspyck, Eric, Rendu, John, Boutaud, Lucile, Tessier, Aude, Thomas, Sophie, Razavi, Ferechté, Achaiaa, Amale, Elkhartoufi, Nadia, Hakkakian, Leila, Magnin, Eglantine, Bôle‐Feysot, Christine, Masson, Cécile, Ville, Yves, Roth, Philippe, Prieur, Fabienne, Bessieres, Bettina, Bonniere, Maryse, Attie‐Bitach, Tania

“…Megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a…”
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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49 by Abaji, Mario, Gorokhova, Svetlana, Da Silva, Nathalie, Busa, Tiffany, Grelet, Maude, Missirian, Chantal, Sigaudy, Sabine, Philip, Nicole, Leturcq, France, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc

“…Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially…”
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Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect by Pinard, Amélie, Eudes, Nathalie, Mitchell, Julia, Bajolle, Fanny, Grelet, Maude, Okoronkwo, Joséphine, Bonnet, Damien, Collod-Béroud, Gwenaelle, Zaffran, Stéphane

“…Ventricular septal defect (VSD) including outlet VSD of double outlet right ventricle (DORV) and perimembranous VSD are among the most common congenital heart…”
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