Nathalie Boddaert

Nathalie Boddaert

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Nathalie Boddaert

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Expanding the clinical spectrum of mutations.

Mol Genet Metab Rep 2019 Dec 13;21:100501. Epub 2019 Aug 13.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706677PMC
December 2019

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals.

Prenat Diagn 2019 Aug 3;39(9):781-791. Epub 2019 Apr 3.

Service de Radiologie, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.

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http://dx.doi.org/10.1002/pd.5429DOI Listing
August 2019

Central nervous system complications in adult cystinosis patients.

J Inherit Metab Dis 2019 Aug 24. Epub 2019 Aug 24.

Department of Pediatric Radiology, Necker hospital, APHP, Inserm U1000, Imagine Institute, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1002/jimd.12164DOI Listing
August 2019

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

Am J Med Genet A 2019 Jul 19;179(7):1304-1309. Epub 2019 Apr 19.

Laboratory of embryology and genetics of malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61151DOI Listing
July 2019

Neural and behavioral signature of human social perception.

Sci Rep 2019 Jun 25;9(1):9252. Epub 2019 Jun 25.

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

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http://dx.doi.org/10.1038/s41598-019-44977-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593101PMC
June 2019

Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease.

Pediatr Radiol 2019 05 16;49(5):575-585. Epub 2019 Jan 16.

M3C-Necker, Congenital and Pediatric Cardiology, Hôpital Universitaire Necker-Enfants malades, Paris, France.

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http://dx.doi.org/10.1007/s00247-018-04331-yDOI Listing
May 2019

Pituitary deficiency and precocious puberty after childhood severe traumatic brain injury: a long-term follow-up prospective study.

Eur J Endocrinol 2019 May;180(5):281-290

Paediatric Endocrinology, Gynaecology and Diabetology Unit, Assistance Publique-Hôpitaux de Paris, Necker Enfants-Malades University Hospital, Paris, France.

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http://dx.doi.org/10.1530/EJE-19-0034DOI Listing
May 2019

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome.

Dev Med Child Neurol 2019 May 3. Epub 2019 May 3.

Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, Reference Centre for Rare Epilepsies, APHP, Bordeaux, France.

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http://dx.doi.org/10.1111/dmcn.14253DOI Listing
May 2019

"Perimortem" total body CT-scan examination in severely injured children: an informative insight into the causes of death.

Int J Legal Med 2019 May 7. Epub 2019 May 7.

Department of Pediatric Anesthesiology and Critical Care, and SAMU de Paris, Paediatric Neurosurgical Critical Care Unit, Centre Hospitalier Universitaire Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France.

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http://link.springer.com/10.1007/s00414-019-02058-5
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http://dx.doi.org/10.1007/s00414-019-02058-5DOI Listing
May 2019

Aortic atresia and interrupted aortic arch communicating through external carotid anastomosis.

Cardiol Young 2019 May 24;29(5):699-700. Epub 2019 May 24.

Department of Pediatric Radiology,Hôpital Universitaire Necker Enfants Malades,AP-HP, 149 rue de Sèvres, 75105 Paris,France.

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http://dx.doi.org/10.1017/S1047951119000908DOI Listing
May 2019

Aortic angle is associated with neo-aortic root dilatation and regurgitation following arterial switch operation.

Int J Cardiol 2019 04 11;280:53-56. Epub 2019 Jan 11.

Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de référence Malformations Cardiaques Congénitales Complexes - M3C, Paris, France; Radiology Department, Hôpital Universitaire Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.ijcard.2019.01.042DOI Listing
April 2019

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfuntions in ARID1B mutations with Coffin-Siris syndrome.

Psychiatr Genet 2019 Mar 28. Epub 2019 Mar 28.

Faculty of Medicine, University of Paris Descartes (SPC) INSERM UMR 1178/1018-CESP, University of Paris Sud-Paris Saclay, UVSQ Villejuif and Paris Descartes, SPC.

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http://dx.doi.org/10.1097/YPG.0000000000000225DOI Listing
March 2019

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.

Eur J Med Genet 2018 Dec 25;61(12):729-732. Epub 2018 May 25.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France; Centre de Référence "Déficiences intellectuelles de causes rares", APHP- Necker Enfants Malades University Hospital, Paris, France; Genetics and development of the cerebral cortex, Institut Imagine, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173077
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http://dx.doi.org/10.1016/j.ejmg.2018.05.002DOI Listing
December 2018

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Eur J Med Genet 2018 Dec 16;61(12):755-758. Epub 2018 Aug 16.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France; Centre de Référence, Déficiences Intellectuelles de Causes Rares, APHP- Necker Enfants Malades University Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.08.001DOI Listing
December 2018

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Eur J Med Genet 2018 Dec 27;61(12):759-764. Epub 2018 Sep 27.

Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades University Hospital, Paris, France; Reference Center "Déficiences Intellectuelles de Causes Rares", APHP- Necker Enfantes Malades University Hospital, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173079
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http://dx.doi.org/10.1016/j.ejmg.2018.09.012DOI Listing
December 2018

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Eur J Med Genet 2018 Dec 11;61(12):765-772. Epub 2018 Oct 11.

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades Hospital, Paris, France; National Rare Disease Center- Centre de Référence "Déficiences Intellectuelles de Causes Rares", AP-HP, Necker Enfants Malades, 75015, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173084
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http://dx.doi.org/10.1016/j.ejmg.2018.10.004DOI Listing
December 2018

Myocardial inflammation detected by cardiac MRI in Arrhythmogenic right ventricular cardiomyopathy: A paediatric case series.

Int J Cardiol 2018 Nov 31;271:81-86. Epub 2018 May 31.

Hôpital Universitaire Necker Enfants Malades, Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de référence Malformations Cardiaques Congénitales Complexes, M3C, 149, rue de Sèvres, 75743 Paris Cedex 15, France; Hôpital Universitaire Necker Enfants Malades, Service de Radiologie pédiatrique, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.ijcard.2018.05.116DOI Listing
November 2018

Arterial Spin Labeling and Central Precocious Puberty.

Clin Neuroradiol 2018 Nov 5. Epub 2018 Nov 5.

Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s00062-018-0738-5DOI Listing
November 2018

Historadiological correlations in high-grade glioma with the histone 3.3 G34R mutation.

J Neuroradiol 2018 Sep 2;45(5):316-322. Epub 2018 Mar 2.

Department of Pathology, Sainte-Anne Hospital, université Paris-Descartes, U1000, France.

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http://dx.doi.org/10.1016/j.neurad.2018.02.006DOI Listing
September 2018

Challenges in managing epilepsy associated with focal cortical dysplasia in children.

Epilepsy Res 2018 09 14;145:1-17. Epub 2018 May 14.

Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Hospital, Assistance Publique - Hôpitaux de Paris, Université Paris Descartes, Sorbonne Paris Cité, 149 rue de Sevres, 75015, Paris, France; INSERM U1129, Paris Descartes University, CEA, Gif sur Yvette, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2018.05.006DOI Listing
September 2018

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Eur J Paediatr Neurol 2018 Sep 22;22(5):854-861. Epub 2018 May 22.

Reference Center for Neuromuscular Diseases, FILNEMUS, Paris, France; Department of Pediatric Neurology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2018.05.005DOI Listing
September 2018

Clinical, Radiologic, Pathologic, and Molecular Characteristics of Long-Term Survivors of Diffuse Intrinsic Pontine Glioma (DIPG): A Collaborative Report From the International and European Society for Pediatric Oncology DIPG Registries.

J Clin Oncol 2018 07 10;36(19):1963-1972. Epub 2018 May 10.

Lindsey M. Hoffman and Nicholas K. Foreman, University of Colorado Denver; Lindsey M. Hoffman and Nicholas K. Foreman, Children's Hospital Colorado, Aurora, CO; Sophie E.M. Veldhuijzen van Zanten, Esther Hulleman, Gertjan J.L. Kaspers, Esther Sanchez, and Dannis G. van Vuurden, Vrije Universiteit University Medical Center, Amsterdam; William P. Vandertop, Academy of Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Niclas Colditz, Marion Hoffmann, Brigitte Bison, Monika Warmuth-Metz, and Christof M. Kramm, University Medical Center Goettingen, Goettingen; Torsten Pietsch and Gerrit H. Gielen, University of Bonn Medical Center, Bonn; David T.W. Jones, Dominik Sturm, Stefan M. Pfister, and Elke Pfaff, German Cancer Research Center, Hopp-Children's Cancer Center at the Nationale Centrum für Tumorerkrankungen Heidelberg, and German Consortium for Translational Cancer Research; Dominik Sturm, Stefan M. Pfister, and Elke Pfaff, Heidelberg University Hospital, Heidelberg, Germany; Joshua Baugh, Brooklyn Chaney, Adam Lane, Christine Fuller, Nancy Yanez Escorza, Renee Doughman, Rachid Drissi, James Leach, Blaise Jones, and Maryam Fouladi, Cincinnati Children's Hospital Medical Center, Cincinnati; Emmett Broxson, Wright State University and The Children's Medical Center, Dayton, OH; Lili Miles, Nemours Children's Hospital, Orlando, FL; Cynthia Hawkins, Ute Bartels, and Eric Bouffet, The Hospital for Sick Children, Toronto, Ontario; Anne Sophie Carret, Centre Hospitalier Universitaire Sainte-Justine; Nada Jabado, McGill University, Montreal, Quebec, Canada; Stewart Goldman, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL; Sarah Leary, Seattle Children's Hospital, University of Washington and Fred Hutchinson Cancer Research Center, Seattle, WA; Roger Packer, Children's National Health System; Javad Nazarian, Children's National Medical Center, Washington, DC; Katherine E. Warren, National Cancer Institute, Bethesda, MD; Alberto Broniscer, St Jude Children's Research Hospital, Memphis, TN; Mark W. Kieran, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, MA; Jane Minturn, Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Melanie Comito, The Pennsylvania State University, Hershey, PA; Chie-Schin Shih, Indiana University, Indianapolis, IN; Soumen Khatua, The University of Texas MD Anderson Cancer Center; Murali Chintagumpala, Texas Children's Cancer and Hematology Centers, Baylor College of Medicine, Houston, TX; Timothy Hassall, Lady Cilento Children's Hospital, Brisbane, Queensland; David S. Ziegler, Kids Cancer Centre, Sydney Children's Hospital, Randwick; David S. Ziegler, University of New South Wales, Sydney, New South Wales; Nicholas Gottardo and Hetal Dholaria, Princess Margaret Hospital for Children, Perth, Western Australia, Australia; Martin Benesch, Medical University of Graz, Graz, Austria; Nathalie Boddaert. Stephanie Puget, and Raphaël Calmon, Hôpital Necker Enfants Malades; Pascale Varlet, Hôpital Sainte-Anne, Université Paris V Descartes, Sorbonne Paris Cité, Paris; Géraldine Giraud, David Castel, and Jacques Grill, Gustave Roussy, Université Paris-Sud, Université Paris-Saclay, Villejuif, France; Géraldine Giraud, Uppsala University, Uppsala, Sweden; Chris Jones, The Institute of Cancer Research, Sutton; Darren Hargrave, Great Ormond Street Hospital, London; Guirish A. Solanki, Birmingham Women's and Children's Hospital, Birmingham; Simon Bailey, Great North Children's Hospital, Victoria Wing, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom; Piergiorgio Modena and Marzia Giagnacovo, Sant' Anna Como General Hospital, Como; Manila Antonelli, Sapienza University of Rome, Rome; Veronica Biassoni and Maura Massimino, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico, Istituto Nazionale dei Tumori, Milan, Italy; Nicolas U. Gerber and Michael A. Grotzer, University Children's Hospital of Zurich, Zurich; André O. von Bueren, University Hospital of Geneva and University of Geneva, Geneva, Switzerland; and Filip Jadrijevic Cvrlje and Gertjan J.L. Kaspers, Children's Hospital Zagreb, Zagreb, Croatia.

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http://dx.doi.org/10.1200/JCO.2017.75.9308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075859PMC
July 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

Low-dose paediatric cardiac and thoracic computed tomography with prospective triggering: Is it possible at any heart rate?

Phys Med 2018 May 22;49:99-104. Epub 2018 May 22.

Hôpital Universitaire Necker Enfants Malades, Service de Radiologie pédiatrique, Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.ejmp.2018.05.015DOI Listing
May 2018

Individual radiation exposure from computed tomography: a survey of paediatric practice in French university hospitals, 2010-2013.

Eur Radiol 2018 Feb 23;28(2):630-641. Epub 2017 Aug 23.

Laboratoire d'épidémiologie des rayonnements ionisants, Unité Radioprotection de l'Homme, Institut de Radioprotection et de Sûreté Nucléaire, 31 avenue de la Division Leclerc, 92260, Fontenay-aux-Roses, France.

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http://dx.doi.org/10.1007/s00330-017-5001-yDOI Listing
February 2018

Predictors of Outcome in Patients with Pediatric Intracerebral Hemorrhage: Development and Validation of a Modified Score.

Radiology 2018 02 12;286(2):651-658. Epub 2017 Oct 12.

From the Université René Descartes, Sorbonne Paris Cité, Paris, France (T.B., P.M., M.K., M.B., S.P., M.Z., C.O., J.F.M., N.B., F.B., C.S.R., O.N.); Departments of Pediatric Neurosurgery (T.B., M.B., S.P., M.Z., C.S.R.), Anesthesiology (P.M.), Pediatric Neurology (M.K.), and Pediatric Radiology (A.G., C.J., N.B., F.B., O.N.), Necker Enfants Malades Hospital, AP-HP, Paris, France; and Service d'Imagerie Morphologique et Fonctionnelle, Hôpital Sainte-Anne, 1, rue Cabanis, 75014 Paris, France; Inserm U894, Université Paris-Descartes, 12, rue de l'École-de-Médecine, 75270 Paris cedex 06, France (G.B., C.O., J.F.M., O.N.).

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http://dx.doi.org/10.1148/radiol.2017170152DOI Listing
February 2018

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Am J Hum Genet 2018 02;102(2):266-277

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Laboratory of Excellence GR-Ex, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183000
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http://dx.doi.org/10.1016/j.ajhg.2018.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985451PMC
February 2018

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

Am J Med Genet A 2018 01 21;176(1):181-186. Epub 2017 Nov 21.

Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38536DOI Listing
January 2018

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.

Mol Genet Metab 2017 11 10;122(3):140-144. Epub 2017 Jul 10.

Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France; INSERM U1000, 149 rue de Sèvres, 75015 Paris, France; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.001DOI Listing
November 2017

Usefulness of cocaine drops in investigating infant anisocoria.

Eur J Paediatr Neurol 2017 Nov 4;21(6):852-857. Epub 2017 Aug 4.

Ophthalmology Department, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 149 Rue de Sèvres, 75015 Paris, France; Medical School, Université Paris Descartes, Sorbonne Paris Cité, France; COGNAC-G (Cognition and Action Group), UMR 8257 CNRS - IRBA - Paris Descartes University, 45 Rue des Saints Pères, 75006 Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2017.07.020DOI Listing
November 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Multimodal Magnetic Resonance Imaging of Treatment-Induced Changes to Diffuse Infiltrating Pontine Gliomas in Children and Correlation to Patient Progression-Free Survival.

Int J Radiat Oncol Biol Phys 2017 10 11;99(2):476-485. Epub 2017 Apr 11.

Pediatric Radiology Department, Hôpital Necker Enfants Malades, Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité 1000, Paris, France; Imagine-Institut des Maladies Génétiques, UMR 1163, Paris, France; Université Paris Descartes, ComUE Sorbonne Paris Cité, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S03603016173080
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http://dx.doi.org/10.1016/j.ijrobp.2017.04.007DOI Listing
October 2017

Patient radiation doses and reference levels in pediatric interventional radiology.

Eur Radiol 2017 Sep 16;27(9):3983-3990. Epub 2017 Feb 16.

Department of Neuroradiology, Hôpital Bicêtre, Hôpitaux Universitaires Paris-Sud, Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1007/s00330-017-4769-0DOI Listing
September 2017

Characteristics of defenestrating craniofacial injuries in pediatric patients.

Am J Emerg Med 2017 07 13;35(7):1027-1030. Epub 2017 Feb 13.

APHP, Necker Enfants Malades, Service de Chirurgie Maxillo-faciale et Chirurgie Plastique, 75015 Paris, France; Université Paris Descartes, 75005 Paris, France.

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http://dx.doi.org/10.1016/j.ajem.2017.02.023DOI Listing
July 2017

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Am J Med Genet A 2017 Jun 19;173(6):1521-1530. Epub 2017 Apr 19.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38212DOI Listing
June 2017

Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation.

Mol Genet Metab Rep 2017 Mar 13;10:20-22. Epub 2016 Dec 13.

INSERM UMR 1163, Université Paris Descartes-Sorbonne, Service de génétique clinique, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2016.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5157794PMC
March 2017

Authors' reply - Clozapine for mitochondrial psychosis.

Mol Genet Metab Rep 2017 Mar 6;10:101. Epub 2017 Feb 6.

INSERM UMR 1163, Université Paris Descartes-Sorbonne, Service de génétique clinique, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2017.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295507PMC
March 2017

Epileptic spasms in congenital disorders of glycosylation.

Epileptic Disord 2017 Mar;19(1):15-23

Department of Clinical Neurophysiology, Necker Enfants Malades Hospital, Paris, INSERM U1129, Paris, France; Paris Descartes University, CEA, Gif sur Yvette, Paris, France.

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http://dx.doi.org/10.1684/epd.2017.0901DOI Listing
March 2017

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

Am J Med Genet A 2017 02 27;173(2):561-564. Epub 2016 Nov 27.

Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38041DOI Listing
February 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

Description and Contribution of Brain Magnetic Resonance Imaging in Nontraumatic Critically Ill Children.

J Child Neurol 2016 12 2;31(14):1584-1590. Epub 2016 Sep 2.

Service de Réanimation et de Surveillance continue médico-chirurgicales Pédiatriques, Hôpital Necker, Assistance Publique-des Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1177/0883073816666737DOI Listing
December 2016

TMJ arthritis is a frequent complication of otomastoiditis.

J Craniomaxillofac Surg 2016 Dec 4;44(12):1984-1987. Epub 2016 Oct 4.

Université Paris Descartes, 75005 Paris, France; APHP, Necker Enfants Malades, Service de Chirurgie Maxillofaciale et Chirurgie Plastique, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jcms.2016.09.015DOI Listing
December 2016

Arterial Spin Labeling to Predict Brain Tumor Grading in Children: Correlations between Histopathologic Vascular Density and Perfusion MR Imaging.

Radiology 2016 Nov 3;281(2):553-566. Epub 2016 Jun 3.

From the Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France (V.D., E.S., D.G., R.C., F.B., N.B.); INSERM U1000, Paris, France (V.D., D.G., R.C., F.B., P.V., N.B.); IMNC, UMR 8165 CNRS, University Paris Diderot and University Paris Sud, Campus d'Orsay, Orsay, France (C. Deroulers, M.B.); Clinical Research Unit, Hôpital Tarnier, AP-HP, Paris, France (F.F.); UMR 1163, Institut Imagine, Paris, France (D.G., R.C., F.B., N.B.); University René Descartes, PRES Sorbonne Paris Cité, Paris, France (R.C., M.P., T.B., S.P., M.Z., C.S., F.B., P.V., N.B.); Department of Neuropathology, Centre Hospitalier Sainte Anne, Paris, France (M.P., P.V.); Department of Pediatric and Adolescent Oncology, Gustave Roussy Institute, Villejuif, France (J.G., C. Dufour); CNRS, UMR 8203, Gustave Roussy Institute, University Paris-Sud, Villejuif, France (J.G., C. Dufour); and Department of Pediatric Neurosurgery, Hôpital Necker Enfants Malades, Paris, France (T.B., S.P., M.Z., C.S.).

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http://dx.doi.org/10.1148/radiol.2016152228DOI Listing
November 2016

Magnetic resonance imaging arterial-spin-labelling perfusion alterations in childhood migraine with atypical aura: a case-control study.

Dev Med Child Neurol 2016 09 6;58(9):965-9. Epub 2016 Apr 6.

Pediatric Radiology Department, Hôpital Necker - Enfants Malades, INSERM UMR1163 and U1000, Institut Imagine, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1111/dmcn.13123DOI Listing
September 2016

Radiation dose reduction in paediatric coronary computed tomography: assessment of effective dose and image quality.

Eur Radiol 2016 Jul 3;26(7):2030-8. Epub 2015 Oct 3.

Service de Radiologie pédiatrique, Hôpital Universitaire Necker Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex 15, France.

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http://link.springer.com/10.1007/s00330-015-4032-5
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http://dx.doi.org/10.1007/s00330-015-4032-5DOI Listing
July 2016

Tuning Eye-Gaze Perception by Transitory STS Inhibition.

Cereb Cortex 2016 06 5;26(6):2823-31. Epub 2016 Mar 5.

INSERM U1000, Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/cercor/bhw045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869819PMC
June 2016

Arterial spin labeling shows pre-epileptic tuber hyperperfusion in tuberous sclerosis complex.

Neurology 2016 05;86(18):1744-5

From the Departments of Pediatric Neurology (M.H., D.B., N.C., R.N.) and Pediatric Radiology (D.G., F.B., R.C., N.B.), Necker Enfants Malades Hospital, APHP, Paris; Centre National de Référence des Epilepsies Rares de l'Enfant (M.H., D.B., N.C., R.N.); INSERM U1129 (M.H., D.B., N.C., R.N.), Paris; University René Descartes (D.G., F.B., R.C., N.B., R.N.), PRES Sorbonne Paris Cité, Paris; INSERM U1000 (D.G., F.B., R.C., N.B.), Paris; and MR 1163 (D.G., F.B., R.C., N.B., R.N.), Institut Imagine, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000002636DOI Listing
May 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
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http://dx.doi.org/10.1038/ejhg.2015.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755376PMC
March 2016

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Neurogenetics 2016 Jan 19;17(1):79-82. Epub 2015 Sep 19.

Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1007/s10048-015-0459-8DOI Listing
January 2016

Progressive paralyzing sciatica revealing a pelvic pseudoaneurysm a year after hip surgery in a 12yo boy.

Eur J Paediatr Neurol 2016 Jan 26;20(1):179-82. Epub 2015 Oct 26.

Department of Pediatric Radiology, Necker Enfants-Malades Hospital, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798150017
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http://dx.doi.org/10.1016/j.ejpn.2015.10.004DOI Listing
January 2016

A neuropathological study of cerebrovascular abnormalities in a signal transducer and activator of transcription 3-deficient patient.

J Allergy Clin Immunol 2015 Nov 30;136(5):1418-21.e1-5. Epub 2015 Jun 30.

Sorbonne Paris Cité, Paris Descartes University, Imagine Institute, Paris, France; Centre de référence des déficits immunitaires héréditaires (CEREDIH), Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France; Study Centre for Primary Immunodeficiencies, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, IMAGINE Institute, Paris, France.

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http://dx.doi.org/10.1016/j.jaci.2015.05.021DOI Listing
November 2015

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations.

Diabetes Care 2015 Nov 5;38(11):2033-41. Epub 2015 Oct 5.

Service Endocrinologie, Gynécologie et Diabétologie Pédiatrique, Hôpital Universitaire Necker Enfants Malades Paris, Assistance Publique-Hôpitaux de Paris, Paris, France Faculté de Médecine, Paris Descartes-Université Sorbonne Paris Cité, Paris, France Inserm U1016, Institut Cochin, Paris, France Inserm UMR 1163, Institut Imagine, Paris Descartes-Université Sorbonne Paris Cité, Paris, France

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http://dx.doi.org/10.2337/dc15-0837DOI Listing
November 2015

Myocardial inflammation on cardiovascular magnetic resonance predicts left ventricular function recovery in children with recent dilated cardiomyopathy.

Eur Heart J Cardiovasc Imaging 2015 Jul 21;16(7):756-62. Epub 2015 Feb 21.

Centre de Référence Malformations Cardiaques Congénitales Complexes-M3C, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, AP-HP, 149, rue de Sèvres, 75015 Paris, France

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http://dx.doi.org/10.1093/ehjci/jev002DOI Listing
July 2015

Contiguous mutation syndrome in the era of high-throughput sequencing.

Mol Genet Genomic Med 2015 May 18;3(3):215-20. Epub 2015 Mar 18.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital 75015, Paris, France.

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http://dx.doi.org/10.1002/mgg3.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444163PMC
May 2015