Protocol for a randomised controlled trial comparing two CPAP levels to prevent extubation failure in extremely preterm infants

by Susan M Donath, Peter G Davis, Atul Malhotra, Brett James Manley, Rosemarie Anne Boland, Anna Madeline Kidman, Risha Bhatia
Published 2021-06-01

A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Mi...

by Céline Augière, Simon Mégy, Rajae El Malti, Anne Boland, Loubna El Zein, Bernard Verrier, André Mégarbané, Jean-François Deleuze, Patrice Bouvagnet
Published 2015-01-01

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families.

by Maëva Veyssiere, Javier Perea, Laetitia Michou, Anne Boland, Christophe Caloustian, Robert Olaso, Jean-François Deleuze, François Cornelis, Elisabeth Petit-Teixeira, Valérie Chaudru
Published 2019-01-01

Genotyping on blood and buccal cells using loop-mediated isothermal amplification in healthy humans

by Catherine Drogou, Fabien Sauvet, Mégane Erblang, Liselot Detemmerman, Céline Derbois, Marie Claire Erkel, Anne Boland, Jean François Deleuze, Danielle Gomez-Merino, Mounir Chennaoui
Published 2020-06-01

Bdf1 Bromodomains Are Essential for Meiosis and the Expression of Meiotic-Specific Genes.

by Encar García-Oliver, Claire Ramus, Jonathan Perot, Marie Arlotto, Morgane Champleboux, Flore Mietton, Christophe Battail, Anne Boland, Jean-François Deleuze, Myriam Ferro, Yohann Couté, Jérôme Govin
Published 2017-01-01

Family-based genome-wide association study of leprosy in Vietnam.

by Chaima Gzara, Monica Dallmann-Sauer, Marianna Orlova, Nguyen Van Thuc, Vu Hong Thai, Vinicius M Fava, Marie-Thérèse Bihoreau, Anne Boland, Laurent Abel, Alexandre Alcaïs, Erwin Schurr, Aurélie Cobat
Published 2020-05-01

Strong selection during the last millennium for African ancestry in the admixed population of Madagascar

by Denis Pierron, Margit Heiske, Harilanto Razafindrazaka, Veronica Pereda-loth, Jazmin Sanchez, Omar Alva, Amal Arachiche, Anne Boland, Robert Olaso, Jean-Francois Deleuze, Francois-Xavier Ricaut, Jean-Aimé Rakotoarisoa, Chantal Radimilahy, Mark Stoneking, Thierry Letellier
Published 2018-03-01

Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.

by Eric Bonnet, Marie-Laure Moutet, Céline Baulard, Delphine Bacq-Daian, Florian Sandron, Lilia Mesrob, Bertrand Fin, Marc Delépine, Marie-Ange Palomares, Claire Jubin, Hélène Blanché, Vincent Meyer, Anne Boland, Robert Olaso, Jean-François Deleuze
Published 2018-01-01

A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus

by Lenha Mobuchon, Aude Battistella, Claire Bardel, Ghislaine Scelo, Alexia Renoud, Alexandre Houy, Nathalie Cassoux, Maud Milder, Géraldine Cancel-Tassin, Olivier Cussenot, Olivier Delattre, Céline Besse, Anne Boland, Jean-François Deleuze, David G. Cox, Marc-Henri Stern
Published 2017-03-01

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma

by Jean-Noël Hubert, Voreak Suybeng, Maxime Vallée, Tiffany M. Delhomme, Eve Maubec, Anne Boland, Delphine Bacq, Jean-François Deleuze, Fanélie Jouenne, Paul Brennan, James D. McKay, Marie-Françoise Avril, Brigitte Bressac-de Paillerets, Estelle Chanudet
Published 2021-05-01

An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism

by Misbah Razzaq, Maria Jesus Iglesias, Manal Ibrahim-Kosta, Louisa Goumidi, Omar Soukarieh, Carole Proust, Maguelonne Roux, Pierre Suchon, Anne Boland, Delphine Daiain, Robert Olaso, Sebastian Havervall, Charlotte Thalin, Lynn Butler, Jean-François Deleuze, Jacob Odeberg, Pierre-Emmanuel Morange, David-Alexandre Trégouët
Published 2021-07-01

Comprehensive linkage and association analyses identify haplotype, near to the TNFSF15 gene, significantly associated with spondyloarthritis.

by Elena Zinovieva, Catherine Bourgain, Amir Kadi, Franck Letourneur, Brigitte Izac, Roula Said-Nahal, Nicolas Lebrun, Nicolas Cagnard, Agathe Vigier, Sébastien Jacques, Corinne Miceli-Richard, Henri-Jean Garchon, Simon Heath, Céline Charon, Delphine Bacq, Anne Boland, Diana Zelenika, Gilles Chiocchia, Maxime Breban
Published 2009-06-01

Monocyte transcriptomes from patients with axial spondyloarthritis reveal dysregulated monocytopoiesis and a distinct inflammatory imprint

by Fabian Karow, Biljana Smiljanovic, Joachim R. Grün, Denis Poddubnyy, Fabian Proft, Alice Talpin, Christophe Hue, Anne Boland, Jean-François Deleuze, Henri-Jean Garchon, Ilkay Ergenç, Ann-Sophie De Craemer, Ulrike Erben, Thomas Häupl, Dirk Elewaut, Maxime Breban, Andreas Grützkau, Uta Syrbe
Published 2021-09-01

In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin

by Delphine Laustriat, Jacqueline Gide, Laetitia Barrault, Emilie Chautard, Clara Benoit, Didier Auboeuf, Anne Boland, Christophe Battail, François Artiguenave, Jean-François Deleuze, Paule Bénit, Pierre Rustin, Sylvia Franc, Guillaume Charpentier, Denis Furling, Guillaume Bassez, Xavier Nissan, Cécile Martinat, Marc Peschanski, Sandrine Baghdoyan
Published 2015-01-01

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

by Ludovic Arandel, Micaela Polay Espinoza, Magdalena Matloka, Audrey Bazinet, Damily De Dea Diniz, Naïra Naouar, Frédérique Rau, Arnaud Jollet, Frédérique Edom-Vovard, Kamel Mamchaoui, Mark Tarnopolsky, Jack Puymirat, Christophe Battail, Anne Boland, Jean-Francois Deleuze, Vincent Mouly, Arnaud F. Klein, Denis Furling
Published 2017-04-01

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

by Virginie Laugel-Haushalter, Supawich Morkmued, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Jean Muller, Anne Boland, Jean-François Deleuze, Kirsley Chennen, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus, Hélène Dollfus, Karen Niederreither, Karen Niederreither, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Patimaporn Pungchanchaikul
Published 2018-09-01

The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

by Elena Gargaun, Sestina Falcone, Guilhem Solé, Julien Durigneux, Andoni Urtizberea, Jean Marie Cuisset, Sofia Benkhelifa-Ziyyat, Laura Julien, Anne Boland, Florian Sandron, Vincent Meyer, Jean François Deleuze, David Salgado, Jean-Pierre Desvignes, Christophe Béroud, Anatole Chessel, Alexia Blesius, Martin Krahn, Nicolas Levy, France Leturcq, France Pietri-Rouxel
Published 2021-02-01

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

by Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion
Published 2020-02-01

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

by Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Published 2020-07-01

Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma

by Om Kulkarni, Pierre-Emmanuel Sugier, Julie Guibon, Anne Boland-Augé, Christine Lonjou, Delphine Bacq-Daian, Robert Olaso, Carole Rubino, Vincent Souchard, Frédérique Rachedi, Juan Jesus Lence-Anta, Rosa Maria Ortiz, Constance Xhaard, Pierre Laurent-Puig, Claire Mulot, Anne-Valérie Guizard, Claire Schvartz, Marie-Christine Boutron-Ruault, Evgenia Ostroumova, Ausrele Kesminiene, Jean-François Deleuze, Pascal Guénel, Florent De Vathaire, Thérèse Truong, Fabienne Lesueur
Published 2021-04-01