Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Frédéric, Parisot"'
Autor:
Aline Receveur, Agnès Linglart, Cong Toai Tran, Frédéric Parisot, Lucie Tosca, Virginie Benoit, Minh-Tuan Huynh, Anne-Sophie Lambert, Christophe Philippe, Gérard Tachdjian, Sophie Brisset, François Petit
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 61 (8), pp.459-464. ⟨10.1016/j.ejmg.2018.03.005⟩
European Journal of Medical Genetics, Elsevier, 2018, 61 (8), pp.459-464. ⟨10.1016/j.ejmg.2018.03.005⟩
IF 2.004 (2018); International audience; 15q24 microdeletion and microduplication syndromes are genetic disorders caused by non-allelic homologous recombination between low-copy repeats (LCRs) in the 15q24 chromosome region. Individuals with 15q24 mi
Autor:
Jelena Martinovic, Jérôme Bouligand, Jeanne Amiel, Frédéric Parisot, Virginie Benoit, François Petit, Aline Receveur, Alexis Proust, Gérard Tachdjian, Lucie Tosca, Elie Azria, Sophie Brisset, Minh-Tuan Huynh, Loïc Drévillon
Publikováno v:
European Journal of Medical Genetics. 61:322-328
Proximal 19p13.12 microdeletion has been rarely reported. Only five postnatal cases with intellectual disability, facial dysmorphism, branchial arch defects and overlapping deletions involving proximal 19p13.12 have been documented. Two critical inte
Autor:
Philippe Labrune, François Petit, Frédéric Parisot, Bettina Bedel, Narjes Armanet, Sophie Brisset, Salima Oucherif, Valérie Gautier, Lucie Tosca, Gérard Tachdjian, Anne Mayeur Le Bras, Jelena Martinovic, Alexandra Benachi
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 106:298-303
Background Monochorionic twins are generally considered as a monozygotic twin pregnancy. However, several cases of monochorial dizygotic twin pregnancies have been reported. Case Report: We report on a rare case of monochorionic dizygotic twin pregna
Autor:
Rabah Ben Yaou, David Gaist, Marc Bartoli, John Vissing, Julia R. Dahlqvist, Gisèle Bonne, Pascal Laforêt, Frédéric Parisot, Philippe Labrune, Philippe Petiot, Isabelle Nelson, Aurélie Hubert, Bruno Eymard, Morten Duno, Robert Carlier, Thomas O. Krag, Martin Krahn, Fabrice Michel, Maud Beuvin, François Petit, Norma B. Romero, Nathalie Streichenberger, Edoardo Malfatti, Mathieu Cerino
Publikováno v:
Neurology Genetics
Neurology Genetics, 2017, 3 (6), ⟨10.1212/NXG.0000000000000208⟩
Ben Yaou, R, Hubert, A, Nelson, I, Dahlqvist, J R, Gaist, D, Streichenberger, N, Beuvin, M, Krahn, M, Petiot, P, Parisot, F, Michel, F, Malfatti, E, Romero, N, Carlier, R Y, Eymard, B, Labrune, P, Duno, M, Krag, T, Cerino, M, Bartoli, M, Bonne, G, Vissing, J, Laforet, P & Petit, F M 2017, ' Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency ', Neurology: Genetics, vol. 3, no. 6, e208 . https://doi.org/10.1212/NXG.0000000000000208
Neurology Genetics, American Academy of Neurology, 2017, 3 (6), ⟨10.1212/NXG.0000000000000208⟩
Neurology Genetics, 2017, 3 (6), pp.e208. ⟨10.1212/NXG.0000000000000208⟩
Neurology Genetics, 2017, 3 (6), ⟨10.1212/NXG.0000000000000208⟩
Ben Yaou, R, Hubert, A, Nelson, I, Dahlqvist, J R, Gaist, D, Streichenberger, N, Beuvin, M, Krahn, M, Petiot, P, Parisot, F, Michel, F, Malfatti, E, Romero, N, Carlier, R Y, Eymard, B, Labrune, P, Duno, M, Krag, T, Cerino, M, Bartoli, M, Bonne, G, Vissing, J, Laforet, P & Petit, F M 2017, ' Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency ', Neurology: Genetics, vol. 3, no. 6, e208 . https://doi.org/10.1212/NXG.0000000000000208
Neurology Genetics, American Academy of Neurology, 2017, 3 (6), ⟨10.1212/NXG.0000000000000208⟩
Neurology Genetics, 2017, 3 (6), pp.e208. ⟨10.1212/NXG.0000000000000208⟩
Objective:To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations.Methods:We describe 9 pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d75f5b72d75d4cd4bf3bdde7c22142
https://hal.science/hal-01741733/document
https://hal.science/hal-01741733/document
Autor:
Rabah, Ben Yaou, Aurélie, Hubert, Isabelle, Nelson, Julia R, Dahlqvist, David, Gaist, Nathalie, Streichenberger, Maud, Beuvin, Martin, Krahn, Philippe, Petiot, Frédéric, Parisot, Fabrice, Michel, Edoardo, Malfatti, Norma, Romero, Robert Yves, Carlier, Bruno, Eymard, Philippe, Labrune, Morten, Duno, Thomas, Krag, Mathieu, Cerino, Marc, Bartoli, Gisèle, Bonne, John, Vissing, Pascal, Laforet, François M, Petit
Publikováno v:
Neurology: Genetics
Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations. Methods: We describe 9
Autor:
Philippe Labrune, Sophie Brisset, Clarisse Benattar, Marylise Hébert, Marie-Victoire Senat, Frédéric Parisot, Gérard Tachdjian, Olivier Picone, Liliane Capel, François Petit, Marie-Laure Maurin
Publikováno v:
European Journal of Human Genetics. 17:387-390
Alpha feto-protein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal period. During the second trimester of pregnancy, APF and betahCG serum concentrations are commonly used for screening Down syndrome. AFP defic
Autor:
Anne, Mayeur Le Bras, François, Petit, Alexandra, Benachi, Bettina, Bedel, Salima, Oucherif, Jelena, Martinovic, Narjes, Armanet, Lucie, Tosca, Valérie, Gautier, Frédéric, Parisot, Philippe, Labrune, Gérard, Tachdjian, Sophie, Brisset
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 106(4)
Monochorionic twins are generally considered as a monozygotic twin pregnancy. However, several cases of monochorial dizygotic twin pregnancies have been reported.We report on a rare case of monochorionic dizygotic twin pregnancy conceived after induc
Autor:
A Myara, Vincent Gajdos, Liliane Capel, P. Labrune, Frédéric Parisot, François Petit, Jeanne Francoual
Publikováno v:
Clinical Genetics. 69:525-527
Autor:
Khaled Lasram, Fehmi Nasrallah, Yosra Bouyacoub, Sonia Abdelhak, Marie-Françoise Ben Dridi, Frédéric Parisot, Mariem Ben Khelifa, Neji Tebib, Rym Kefi, François Petit, Hatem Azzouz, Amel Ben Chehida, Faten Ben Rhouma, Lilia Romdhane, Christiane Baussan, Naziha Kaabachi
Publikováno v:
Molecular Biology Reports
Molecular Biology Reports, Springer Verlag, 2013, 40 (7), pp.4197-202. ⟨10.1007/s11033-013-2500-z⟩
Molecular Biology Reports, Springer Verlag, 2013, 40 (7), pp.4197-202. ⟨10.1007/s11033-013-2500-z⟩
International audience; Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is designated as AGL gene. The disease is characterized b
Autor:
François Petit, Naima Khrouf, Liliane Capel, Vincent Gajdos, Stéphane Bézieau, Jeanne Francoual, Alix Mollet-Boudjemline, Abraham Koshy, Frédéric Parisot, Ridha M’Rad, Volodia Stozinic, P. Labrune, Catherine Scoul
Publikováno v:
European journal of human genetics : EJHG. 16(7)
Crigler–Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation – c.1070A>G in exon 3 – was identified in the Tunisian population, suggesting a founder effect. In 2004, the detection of this mutation in two K