Publications by authors named "Marlene Rio"

100Publications

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

Eur J Med Genet 2020 Aug 8;63(11):104033. Epub 2020 Aug 8.

Centre de Référence des Surdités Génétiques, Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP.Centre, Paris, France; Fédération de Génétique, Hôpital Necker-Enfants Malades, AP-HP.Centre, Paris, France; Laboratoire d'Embryologie et de Génétique des Malformations Congénitales, INSERM UMR 1163, Institut Imagine, Université Paris Descartes, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104033DOI Listing
August 2020

Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Adv Exp Med Biol 2019 ;1185:189-195

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1007/978-3-030-27378-1_31DOI Listing
February 2020

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.

J Neuromuscul Dis 2020 ;7(1):69-76

Basic and Translational Myology Laboratory, Unité de Biologie Fonctionnelle et Adaptative (BFA), UMR 8251, CNRS/ Université de Paris, Paris, France.

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http://dx.doi.org/10.3233/JND-190413DOI Listing
January 2020

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

Am J Med Genet A 2020 01 25;182(1):29-37. Epub 2019 Oct 25.

AP-HP, Service de Génétique Clinique, Necker-Enfants malades University Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61364DOI Listing
January 2020

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 08 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

Mol Genet Metab 2018 07 9;124(3):228-235. Epub 2018 May 9.

AP-HP, Bichat University Hospital, Biochemistry, Paris, France; INSERM UMR-1193 "Mécanismes cellulaires et moléculaires de l'adaptation au stress et cancérogenèse", Université Paris-Sud, Châtenay-Malabry, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.05.002DOI Listing
July 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.

J Med Genet 2018 02 28;55(2):131-136. Epub 2017 Jul 28.

Universitè Paris Descartes - Sorbonne Paris Citè, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104615DOI Listing
February 2018

Compound heterozygosity for severe and hypomorphic mutations cause non-syndromic LHON-like optic neuropathy.

J Med Genet 2017 05 28;54(5):346-356. Epub 2016 Dec 28.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-104212DOI Listing
May 2017

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Neurogenetics 2017 01 10;18(1):23-28. Epub 2016 Oct 10.

Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-016-0498-9DOI Listing
January 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

[Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects].

Med Sci (Paris) 2016 Jun-Jul;32(6-7):571-3. Epub 2016 Jul 12.

Inserm UMR 1163, laboratoire bases moléculaires et pathophysiologiques des désordres cognitifs, université Paris Descartes- Sorbonne Paris Cité, institut Imagine, hôpital Necker-Enfants Malades, 24, boulevard du Montparnasse, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/20163206015DOI Listing
July 2017

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Eur J Hum Genet 2016 08 16;24(8):1112-6. Epub 2015 Dec 16.

Departments of Pediatric, Cardiology and Genetics and INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants-Malades, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2015.264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970679PMC
August 2016

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Eur J Hum Genet 2016 Mar 8;24(3):455-8. Epub 2015 Jul 8.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.

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http://www.nature.com/articles/ejhg2015140
Publisher Site
http://dx.doi.org/10.1038/ejhg.2015.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755376PMC
March 2016

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.

Proteomics Clin Appl 2015 Aug 24;9(7-8):787-93. Epub 2015 Mar 24.

EA4530, Dynamique des microtubules en physiopathologie, Faculté de Pharmacie, Université Paris-Sud, Châtenay-Malabry, France.

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http://dx.doi.org/10.1002/prca.201400187DOI Listing
August 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Natural history of Barth syndrome: a national cohort study of 22 patients.

Orphanet J Rare Dis 2013 May 8;8:70. Epub 2013 May 8.

AP-HP, Registre français des neutropénies chroniques sévères, Centre de référence des déficits Immunitaires Héréditaires, Service d'Hémato-oncologie Pédiatrique Hôpital Trousseau, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656783PMC
May 2013

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 2013

Toward genotype phenotype correlations in GFM1 mutations.

Mitochondrion 2012 Mar 1;12(2):242-7. Epub 2011 Oct 1.

Department of Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.mito.2011.09.007DOI Listing
March 2012

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

Science 2011 Aug;333(6046):1161-3

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université de Strasbourg, BP 163, 67404 Illkirch Cedex, C. U. Strasbourg, France.

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http://dx.doi.org/10.1126/science.1206638DOI Listing
August 2011

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

Hum Mutat 2011 Nov 14;32(11):1225-31. Epub 2011 Sep 14.

Department of Genetics, INSERM U781, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1002/humu.21562DOI Listing
November 2011

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Am J Med Genet A 2011 May 11;155A(5):1178-83. Epub 2011 Apr 11.

Department of Medical Genetics, Université Paris Descartes, INSERM U, Hôpital Necker-Enfants Malades, France.

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http://dx.doi.org/10.1002/ajmg.a.33813DOI Listing
May 2011

Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.

J Pediatr Gastroenterol Nutr 2010 Apr;50(4):447-9

Pediatric Hepatology, National Reference Centre for Biliary Atresia, INSERM 757, France.

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http://dx.doi.org/10.1097/MPG.0b013e3181cd2725DOI Listing
April 2010

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Mitochondrion 2010 Jun 1;10(4):335-41. Epub 2010 Mar 1.

Université Paris Descartes, Hôpital Necker-Enfants Malades et Inserm U781 et U797, Départements de Génétique, de Radiologie pédiatrique, des Maladies Métaboliques et de Biochimie B, Paris F-75015, France.

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http://dx.doi.org/10.1016/j.mito.2010.02.006DOI Listing
June 2010

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.

Eur J Hum Genet 2010 Mar 21;18(3):285-90. Epub 2009 Oct 21.

Département de Génétique, Université Paris Descartes, INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987214PMC
March 2010

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Eur J Hum Genet 2009 Jan 1;17(1):133-6. Epub 2008 Oct 1.

Département de Pédiatrie, Hoôpital Necker Enfants Malades, AP-HP, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2008.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985950PMC
January 2009