Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Audrey Criqui"'
Autor:
Christel Dagher, Audrey Criqui, Nathalie Roeckel-Trevisiol, Christel Castro, Daniel Mahfoud, Hala Mégarbané, Sylvain Baulande, André Mégarbané, Sayeeda Hana, Stephany El-Hayek, Mahmoud Taleb Al-Ali, Jean-Pierre Desvignes, Valérie Delague
Publikováno v:
Molecular Syndromology
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd26fd4373b9c4259fcbc827655ef5b
https://hal-amu.archives-ouvertes.fr/hal-03662760
https://hal-amu.archives-ouvertes.fr/hal-03662760
Autor:
Rafael De Cid, Rabah Ben Yaou, Carinne Roudaut, Karine Charton, Sylvain Baulande, France Leturcq, Norma Beatriz Romero, Edoardo Malfatti, Maud Beuvin, Anna Vihola, Audrey Criqui, Isabelle Nelson, Juliette Nectoux, Laurène Ben Aim, Christophe Caloustian, Robert Olaso, Bjarne Udd, Gisèle Bonne, Bruno Eymard, Isabelle Richard
Publikováno v:
Neurology. 85:2126-2135
Objective: To identify the genetic defects present in 3 families with muscular dystrophy, contractures, and calpain 3 deficiency. Methods: We performed targeted exome sequencing on one patient presenting a deficiency in calpain 3 on Western blot but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9754c184032b8cf7fd847a2173c28bd
https://doi.org/10.1212/wnl.0000000000002200
https://doi.org/10.1212/wnl.0000000000002200
Publikováno v:
médecine/sciences. 30:289-296
Search for new biomarkers able to improve patient diagnosis has become a real challenge in the era of personalized medicine. Considering that early detection of cancer greatly increases the chances for successful treatment, the identification of accu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::834fa4359ada5825cbbc2b1fad87f9c7
https://doi.org/10.1051/medsci/20143003017
https://doi.org/10.1051/medsci/20143003017
Autor:
Juliette Nectoux, Rafael de Cid, Sylvain Baulande, France Leturcq, Jon Andoni Urtizberea, Isabelle Penisson-Besnier, Aleksandra Nadaj-Pakleza, Carinne Roudaut, Audrey Criqui, Lucie Orhant, Delphine Peyroulan, Raba Ben Yaou, Isabelle Nelson, Anna Maria Cobo, Marie-Christine Arné-Bes, Emmanuelle Uro-Coste, Patrick Nitschke, Mireille Claustres, Gisèle Bonne, Nicolas Lévy, Jamel Chelly, Isabelle Richard, Mireille Cossée
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2015, 23 (7), pp.929-934. ⟨10.1038/ejhg.2014.223⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (7), pp.929-934. ⟨10.1038/ejhg.2014.223⟩
European Journal of Human Genetics, 2015, 23 (7), pp.929-934. ⟨10.1038/ejhg.2014.223⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (7), pp.929-934. ⟨10.1038/ejhg.2014.223⟩
International audience; Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome. Few cases have been described to date in LGMD2H/STM, but this gene is not systemat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21ba58ca6496712a8ef2df60ce6d6279
https://hal.umontpellier.fr/hal-02190709
https://hal.umontpellier.fr/hal-02190709
Publikováno v:
Medecine sciences : M/S. 30(3)
Search for new biomarkers able to improve patient diagnosis has become a real challenge in the era of personalized medicine. Considering that early detection of cancer greatly increases the chances for successful treatment, the identification of accu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9edd004d63f87c7f61b809af9696442f
https://pubmed.ncbi.nlm.nih.gov/24685220
https://pubmed.ncbi.nlm.nih.gov/24685220
Autor:
Audrey Criqui, Sylvain Baulande
Publikováno v:
médecine/sciences. 26:452-454
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fb95b4f13d3526723d8dfdc76efa350
https://doi.org/10.1051/medsci/2010265452
https://doi.org/10.1051/medsci/2010265452
Autor:
Jamel Chelly, Isabelle Pénisson-Besnier, Jon Andoni Urtizberea, F. Leturcq, Mireille Claustres, Lucie Orhant, A. Nadaj Pakleza, Sylvain Baulande, M. Arne-Bes, Isabelle Richard, Mireille Cossée, Gisèle Bonne, R. Ben Yaou, Carinne Roudaut, Patrick Nitschke, R. de Cid, Juliette Nectoux, Isabelle Nelson, Nicolas Lévy, Audrey Criqui, D. Peyroulan
Publikováno v:
Neuromuscular Disorders. 24:901-902
Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H). Few cases have been described to date, but this gene is not systematically analysed due to the absence of specific signs and difficulties in protein analysis. By usin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ed5c6fac413baceabb2ebc6048eb139
https://doi.org/10.1016/j.nmd.2014.06.357
https://doi.org/10.1016/j.nmd.2014.06.357
Autor:
Audrey Criqui, Gisèle Bonne, R. Ben Yaou, Isabelle Nelson, Thomas Voit, Valérie Allamand, Nicolas Lévy, Isabelle Richard, R. De Cid Ibeas, Sylvain Baulande, P. Richard
Publikováno v:
Neuromuscular Disorders. 22:807-808
Currently in most laboratories, molecular investigations of neuromuscular disorders (NMDs) are based on a differential molecular diagnosis by a complex and time-consuming gene by gene approach guided by a clinical approach. As a consequence, it is es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b352970bb51211ae585cf42b97ffef3a
https://doi.org/10.1016/j.nmd.2012.06.022
https://doi.org/10.1016/j.nmd.2012.06.022