Zobrazeno 21 - 30
of 157
pro vyhledávání: '"Laurent Guibaud"'
Autor:
Alexandre Guilhem, Sophie Dupuis-Girod, Olivier Espitia, Sophie Rivière, Julie Seguier, Mallorie Kerjouan, Christian Lavigne, Hélène Maillard, Pascal Magro, Laurent Alric, Dan Lipsker, Antoine Parrot, Vanessa Leguy, Claire Vanlemmens, Laurent Guibaud, Miikka Vikkula, Melanie Eyries, Pierre-Jean Valette, Sophie Giraud
Publikováno v:
Journal of Medical Genetics. :jmg-2022
BackgroundEPHB4loss of function is associated with type 2 capillary malformation–arteriovenous malformation syndrome, an autosomal dominant vascular disorder. The phenotype partially overlaps with hereditary haemorrhagic telangiectasia (HHT) due to
Autor:
Federico Di Rocco, Maria Lucia Licci, Aurore Garde, Carmine Mottolese, Christel Thauvin-Robinet, Martin Chevarin, Laurent Guibaud, Pierre Vabres, Paul Kuentz, Laurence Faivre
Publikováno v:
European Journal of Medical Genetics. 66:104678
Subjects with Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP) can present with a Chiari Malformation Type 1 and resulting alterations in cerebrospinal fluid (CSF) dynamics, which may require surgical treatment. The aim of this pa
Autor:
Marta Massimello, Delphine Héron, Tania Attié-Bitach, Myrtille Spentchian, Anne Faudet, Marie-Amélie Rocchisanni, Laurent Mandelbrot, Alexandra Benachi, Julien Saada, Florence Bretelle, Stéphanie Friszer, Paul Maurice, Catherine Garel, Julien Buratti, Mathilde Nizon, Valérie Layet, Jean-Marie Jouannic, Thierry Billette de Villemeur, Corinne Mach, Mathieu Milh, Lucie Guilbaud, Stéphanie Valence, Agnès Guët, Genevieve Quenum‐Miraillet, Sébastien Moutton, Rodolphe Dard, Sandra Chantot-Bastaraud, Valérie Olin, Magali Gorce, Daphné Lehalle, Marta Spodenkiewic, Marie-Laure Moutard, Linda Mouthon, Solveig Heide, Elodie Lejeune, Vassili Tsatsaris, Claire Beneteau, Marie Vincent, Laurent Guibaud, Sandra Whalen, Cyril Mignot, Vincent des Portes, Eléonore Blondiaux, Mathilde Lefebvre, Audrey Putoux, Boris Keren
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
International audience; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnosti
Publikováno v:
médecine/sciences
médecine/sciences, EDP Sciences, 2020, 36 (10), pp.866-871. ⟨10.1051/medsci/2020157⟩
médecine/sciences, EDP Sciences, 2020, 36 (10), pp.866-871. ⟨10.1051/medsci/2020157⟩
Les variants pathogènes du gène NDE1 sont responsables de microlissencéphalies chez l’homme et constituent le déficit de la neurogenèse le plus sévère décrit à ce jour. Le gène NDE1 code une phosphoprotéine essentielle à la neurogenèse
Autor:
Sara Cabet, Alexandre Vasiljevic, Audrey Putoux, Audrey Labalme, Damien Sanlaville, Nicolas Chatron, Gaetan Lesca, Laurent Guibaud
Publikováno v:
Prenatal diagnosisREFERENCES. 42(4)
Autor:
Fanny Ciccarese, Julie Chauvel-Picard, Laurent Guibaud, Loïc Viremouneix, Jean-Luc Perrot, Pierre Breton, Arnaud Gleizal
Publikováno v:
Journal of stomatology, oral and maxillofacial surgery. 123(5)
Intra-mandibular arteriovenous malformations (IM-AVM) are rare congenital lesions sadly known by the appearance of cataclysmic haemorrhages. It represents a therapeutic challenge which requires a multidisciplinary approach. This paper aims to evaluat
Autor:
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Sarah Grotto, Lyse Ruaud, Caroline Michot, Martin Castelle, Agnès Guët, Laurent Guibaud, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Tania Attié-Bitach, Patrick Edery, Sylvie Mazoyer, Marion Delous
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its non-coding gene,RNU4ATAC, has been found mutated in Taybi-Linder (MOPD1/TALS), Roifman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d73912952aca0e6d7322911d9b0fce9c
https://doi.org/10.1101/2021.12.12.21266616
https://doi.org/10.1101/2021.12.12.21266616
Autor:
Alexandre Reymond, Annie Buenerd, E. Thia, Angeline H.M. Lai, Erica Schindewolf, Sara Cabet, Gaetan Lesca, Lucie Gueneau, Audrey Putoux, Laurent Guibaud, Damien Sanlaville
Publikováno v:
Prenatal Diagnosis. 40:276-281
Autor:
Nicolas Chatron, Alexandre Vasiljevic, Eudeline Alix, Audrey Putoux, Gaetan Lesca, Deborah Osio, Phillip Cox, Laurent Guibaud, Damien Sanlaville, Annie Buenerd, Audrey Labalme, Peter Marks, Sara Cabet
Publikováno v:
Brain. 142:3367-3374
Polymicrogyria is a heterogeneous malformation of cortical development microscopically defined by an excessive folding of the cortical mantle resulting in small gyri with a fused surface. Polymicrogyria is responsible for a wide range of neurological
Autor:
Gabriel Morin, Patrick Villarese, Clément Hoguin, Olivia Boccara, Quitterie Venot, Bernard Bonnotte, Vahid Asnafi, Tristan Mirault, Laurent Guibaud, Sylvie Fraitag, Sato Magassa, Antoine Fraissenon, Caroline Chopinet, Guillaume Canaud, Christophe Legendre, Christine Broissand, Célia Chapelle, Lola Zerbib, J. Duong, Sophia Ladraa, Sophie Kaltenbach, Charles Bayard, Junna Yamaguchi, Florence Delestre, Véronique Soupre, Rubina Cassaca
Publikováno v:
Science translational medicine. 13(614)
Lymphatic cystic malformations are rare genetic disorders mainly due to somatic gain-of-function mutations in the PIK3CA gene. These anomalies are frequently associated with pain, inflammatory flar...