M
Marlène Rio
Researcher at Necker-Enfants Malades Hospital
Publications - 206
Citations - 9893
Marlène Rio is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Gene & Microcephaly. The author has an hindex of 52, co-authored 191 publications receiving 8585 citations. Previous affiliations of Marlène Rio include Centre national de la recherche scientifique & Paris Descartes University.
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Journal ArticleDOI
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
Charles Shaw-Smith,Richard Redon,L Rickman,Marlène Rio,Lionel Willatt,Heike Fiegler,Helen V. Firth,Damien Sanlaville,R Winter,Laurence Colleaux,Martin Bobrow,Nigel P. Carter +11 more
TL;DR: It is anticipated that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability and dysmorphism.
Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
Journal ArticleDOI
Breast cancer-Associated pS2 protein: Synthesis and secretion by normal stomach mucosa
Marlène Rio,Jean-Pierre Bellocq,J. Y. Daniel,Catherine Tomasetto,Richard Lathe,M. P. Chenard,A. Batzenschlager,Pierre Chambon +7 more
TL;DR: The pS2 gene encodes an 84-amino acid protein that is secreted after signal peptide cleavage as mentioned in this paper, which has been shown to inhibit gastrointestinal motility and gastric secretion.
Journal ArticleDOI
Ghrelin/motilin-related peptide is a potent prokinetic to reverse gastric postoperative ileus in rat.
L. Trudel,Catherine Tomasetto,Marlène Rio,Mickael Bouin,Victor Plourde,P. Eberling,Pierre Poitras +6 more
TL;DR: Ghrelin/MTLRP accelerates the gastric emptying and small intestinal transit of a liquid meal and is a strong prokinetic agent capable of reversing the postoperative gastric ileus in rat.
Journal ArticleDOI
Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction
Jeanne Amiel,Marlène Rio,Loïc de Pontual,Richard Redon,Valérie Malan,Nathalie Boddaert,Perrine Plouin,Nigel P. Carter,Stanislas Lyonnet,Arnold Munnich,Laurence Colleaux +10 more
TL;DR: These findings demonstrate that TCF4 anomalies are responsible for PHS and provide the first evidence of a human disorder related to class I basic helix-loop-helix transcription-factor defects (also known as "E proteins").