Marie-Laure Moutard

Marie-Laure Moutard

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Marie-Laure Moutard

Marie-Laure Moutard

Publications by authors named "Marie-Laure Moutard"

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
April 2019

Patterns of Detection of Fetal Posterior Fossa Anomalies: Analysis of 81 Cases in the Second Half of Gestation.

Fetal Diagn Ther 2018 21;44(4):247-255. Epub 2017 Nov 21.

Service de Médecine Foetale, Hôpital Armand Trousseau, APHP, Université Pierre et Marie Curie, Paris, France.

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https://www.karger.com/Article/FullText/484316
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http://dx.doi.org/10.1159/000484316DOI Listing
March 2019

EEG profiles during general anesthesia in children: A comparative study between sevoflurane and propofol.

Paediatr Anaesth 2019 Mar 12;29(3):250-257. Epub 2019 Feb 12.

Anesthesiology Department, Hôpital Armand Trousseau, Paris, France.

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http://dx.doi.org/10.1111/pan.13579DOI Listing
March 2019

Early asymmetric inter-hemispheric transfer in the auditory network: insights from infants with corpus callosum agenesis.

Brain Struct Funct 2018 Jul 23;223(6):2893-2905. Epub 2018 Apr 23.

Cognitive Neuroimaging Unit, CEA DRF/I2BM, INSERM, NeuroSpin Center, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.

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http://link.springer.com/10.1007/s00429-018-1667-4
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http://dx.doi.org/10.1007/s00429-018-1667-4DOI Listing
July 2018

Variability of T1-weighted signal intensity of pericallosal lipomas in the fetus.

Pediatr Radiol 2018 03 28;48(3):383-391. Epub 2017 Nov 28.

Service de Radiologie, Hôpital Trousseau - Hôpitaux Universitaires de l'Est Parisien (APHP), Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1007/s00247-017-4028-1DOI Listing
March 2018

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome.

Neuropediatrics 2016 Jan 16;47(1):57-60. Epub 2015 Nov 16.

Pediatric Radiology Unit, University of Geneva Children's Hospital, Switzerland.

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http://dx.doi.org/10.1055/s-0035-1566447DOI Listing
January 2016

Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.

Prenat Diagn 2015 Apr 5;35(4):337-41. Epub 2015 Jan 5.

Service de Radiologie, Hôpital d'Enfants Armand-Trousseau-Hôpitaux Universitaires de l'Est Parisien (APHP), Université Pierre et Marie Curie, Paris VI, France.

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http://dx.doi.org/10.1002/pd.4543DOI Listing
April 2015

Main congenital cerebral anomalies: how prenatal imaging aids counseling.

Fetal Diagn Ther 2014 27;35(4):229-39. Epub 2014 Feb 27.

Department of Radiology, Hôpital d'Enfants Armand-Trousseau, Paris, France.

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http://dx.doi.org/10.1159/000358519DOI Listing
February 2015

Organising white matter in a brain without corpus callosum fibres.

Cortex 2015 Feb 11;63:155-71. Epub 2014 Sep 11.

INSERM, U992, Cognitive Neuroimaging Unit, France; CEA, UNICOG, NeuroSpin, Gif-sur-Yvette, France; University Paris Sud, Orsay, France. Electronic address:

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http://dx.doi.org/10.1016/j.cortex.2014.08.022DOI Listing
February 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

Clinical presentation and outcome of 20 fetuses with parvovirus B19 infection complicated by severe anemia and/or fetal hydrops.

Prenat Diagn 2014 Nov 19;34(11):1023-30. Epub 2014 Jun 19.

Unité d'Obstétrique-Maternité, Hôpital Trousseau, Assistance Publique - Hôpitaux de Paris, Université Pierre et Marie Curie, Paris VI, France; Service de Gynécologie-Obstétrique, CHU Bocage, Université de Bourgogne, Dijon, France.

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http://dx.doi.org/10.1002/pd.4413DOI Listing
November 2014

Developmental aspects of normal EEG.

Handb Clin Neurol 2013 ;111:79-85

Hôpital Necker-Enfants Malades, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00007-5DOI Listing
April 2014

Epileptogenic effect of sevoflurane: determination of the minimal alveolar concentration of sevoflurane associated with major epileptoid signs in children.

Anesthesiology 2012 Dec;117(6):1253-61

Department of Anesthesia and Intensive Care, Assistance Publique, Hopitaux de Paris, St. Antoine University Hospital, University Pierre & Marie Curie, Paris, France.

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http://dx.doi.org/10.1097/ALN.0b013e318273e272DOI Listing
December 2012

The role of the corpus callosum in the perception of reversible figures in children.

Vision Res 2008 Oct 24;48(23-24):2451-5. Epub 2008 Sep 24.

Laboratoire Psychologie de la Perception (CNRS UMR 8158), Université Paris Descartes, Centre Biomédical des Saints Pères, 45 rue des Sts Pères, 75006 Paris, France.

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http://dx.doi.org/10.1016/j.visres.2008.08.007DOI Listing
October 2008

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

Epilepsia 2008 Mar 21;49(3):509-15. Epub 2007 Nov 21.

Department of Pediatric Neurology, Hôpital Necker Enfants Malades, AP-HP, Université Paris V, Paris, France, and INSERM, U663, Paris, France.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01424.xDOI Listing
March 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

[Changes in prenatal ultrasound practices after the Perruche decision and Law no. 2002-303 dated 4 March 2002].

Presse Med 2006 Oct;35(10 Pt 1):1467-74

Centre de diagnostic prénatal et de médecine foetale, Institut de puériculture et de périnatalogie, Paris (75).

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October 2006

Agenesis of the corpus callosum and the establishment of handedness.

Dev Psychobiol 2006 Sep;48(6):472-81

Service de neuropédiatrie, Hôpital Trousseau, Paris, France.

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http://dx.doi.org/10.1002/dev.20162DOI Listing
September 2006

Decision making concerning life-sustaining treatment in paediatric nephrology: professionals' experiences and values.

Nephrol Dial Transplant 2005 Dec 4;20(12):2746-50. Epub 2005 Oct 4.

Laboratoire d'Ethique médicale et de Médecine Légale, Faculté de médecine de Paris 5, 45 rue des Saints Pères, 75006 Paris, France.

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http://dx.doi.org/10.1093/ndt/gfi160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1910593PMC
December 2005

First characterization of a large deletion of the PDHA 1 gene.

Mol Genet Metab 2005 Dec 25;86(4):456-61. Epub 2005 Oct 25.

Laboratoire de Biochimie 1, AP-HP hôpital de Bicêtre, France.

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http://dx.doi.org/10.1016/j.ymgme.2005.08.009DOI Listing
December 2005

MRI of the fetal posterior fossa.

Pediatr Radiol 2005 Feb 23;35(2):124-40. Epub 2004 Nov 23.

Department of Radiology, St Vincent de Paul Hospital, 82 avenue Denfert Rochereau, 75674 Paris Cedex 14, France.

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http://dx.doi.org/10.1007/s00247-004-1316-3DOI Listing
February 2005

Prenatal diagnosis of cerebral malformation with an uncertain prognosis: a study concerning couple's information and consequences on pregnancy.

Ann Genet 2004 Jan-Mar;47(1):41-51

Service de Neuropédiatrie, Hôpital saint Vincent de Paul, 82, avenue Denfert-Rochereau, 75674, Paris cedex 14, France.

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http://dx.doi.org/10.1016/j.anngen.2003.10.004DOI Listing
December 2004

Decisions concerning potentially life-sustaining treatments in paediatric nephrology: a multicentre study in French-speaking countries.

Nephrol Dial Transplant 2004 May 19;19(5):1252-7. Epub 2004 Feb 19.

Laboratoire d'Ethique Médicale, de Droit de la santé et de Santé publique, Faculté de médecine Necker, Paris, France.

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http://dx.doi.org/10.1093/ndt/gfh100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1890006PMC
May 2004

Agenesis of corpus callosum: prenatal diagnosis and prognosis.

Childs Nerv Syst 2003 Aug 4;19(7-8):471-6. Epub 2003 Jul 4.

Services de Neuropédiatrie, Obstétrique, Radiologie, Hôpital Saint Vincent de Paul, 82 Avenue Denfert Rochereau, 75674 Paris Cedex 14, France.

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http://dx.doi.org/10.1007/s00381-003-0781-6DOI Listing
August 2003