Publications by authors named "Nathalie Boddaert"

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

In Reply: High Prevalence of Developmental Venous Anomaly in Diffuse Intrinsic Pontine Gliomas: A Pediatric Control Study.

Neurosurgery 2020 Sep;87(4):E527

Service de Neurochirurgie GHU Paris-Hôpital Sainte-Anne Paris, France.

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http://dx.doi.org/10.1093/neuros/nyaa292DOI Listing
September 2020

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.

Neuromuscul Disord 2020 Jul 10;30(7):593-598. Epub 2020 Jun 10.

Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker-Enfants Malades, Paris, France; VIFASOM, Université de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2020.06.002DOI Listing
July 2020

Cardiac computed tomography angiography in the paediatric population: Expert consensus from the Filiale de cardiologie pédiatrique et congénitale (FCPC) and the Société française d'imagerie cardiaque et vasculaire diagnostique et interventionnelle (SFICV).

Arch Cardiovasc Dis 2020 Aug - Sep;113(8-9):579-586. Epub 2020 Jun 7.

Unité médicochirurgicale de cardiologie congénitale et pédiatrique, centre de référence des maladies cardiaques congénitales complexes (M3C), hôpital universitaire Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France. Electronic address:

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http://dx.doi.org/10.1016/j.acvd.2020.03.016DOI Listing
September 2020

Scurvy: A New Old Cause of Skeletal Pain in Young Children.

Front Pediatr 2020 31;8. Epub 2020 Jan 31.

General Pediatrics Department, Necker Hospital, Paris, France.

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http://dx.doi.org/10.3389/fped.2020.00008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7006051PMC
January 2020

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurol Genet 2019 Dec 25;5(6):e363. Epub 2019 Oct 25.

Service de Génétique (G.B., J.-P.B., S.G.-L.), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1163 (G.B., N.B-.B., R.N.), Université Paris Descartes, PRES Sorbonne Paris Cité, Paris, France; Service de Neurologie Pédiatrique (N.C., N.B-.B., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Centre de Référence des Epilepsies Rares (N.C., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1129 (N.N., A.K., R.N.), Paris, France; Service de Neurophysiologie Clinique et Pédiatrie (M.K.), INSERM U1099, Hôpital Universitaire de Rennes, Université de Rennes, France; Service de Neurophysiologie Clinique (M.E., A.K.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Génétique Clinique (V.C.), Hôpital Femme Mère Enfant, Metz-Thionville, France; Pediatric Neurology Research Group (A.M.), Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Service de Génétique Clinique (L.L.), Hôpital d'Enfants, CHU de Nancy, Vandoeuvre-Lès-Nancy, France; Service de Pédiatrie (F.D.), CHU de Grenoble, France; Service de Neurologie Pédiatrique (D.D., T.B.V.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Neurologie Pédiatrique (N.V., M.M.), APHM, Hôpital d'Enfants de La Timone, Marseille, France; Service de Neurologie Pédiatrique (M-.A.B., M.M.), Centre Hospitalier Universitaire de Tours, Tours, France; Département de Génétique (C.N., M.M.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Radiologie Pédiatrique (N.B., M.M.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Aix-Marseille (M.M.), INSERM, MMG, UMR-S 1251, Faculté de Médecine, Marseille, France; and Unité de Neurologie Pédiatrique (S.A.), Hôpital Rober Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878841PMC
December 2019

[Twenty years of on-site clinical genetics consultations for people with ASD].

Med Sci (Paris) 2019 Nov 17;35(11):843-851. Epub 2019 Dec 17.

Fédération de Génétique Médicale et Institute Imagine, UMR Inserm 1163, Université Paris-Descartes, Hôpital Necker Enfants-Malades et Fondation Elan Retrouvé, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1051/medsci/2019170DOI Listing
November 2019

Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with Social Perception and Rest Cerebral Blood Flow Abnormalities.

Cerebellum 2020 Feb;19(1):58-67

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

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http://dx.doi.org/10.1007/s12311-019-01082-wDOI Listing
February 2020

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Mol Genet Metab Rep 2019 Dec 23;21:100522. Epub 2019 Oct 23.

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

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http://dx.doi.org/10.1016/j.ymgmr.2019.100522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819737PMC
December 2019

TP53 Pathway Alterations Drive Radioresistance in Diffuse Intrinsic Pontine Gliomas (DIPG).

Clin Cancer Res 2019 11 3;25(22):6788-6800. Epub 2019 Sep 3.

UMR8203, "Vectorologie & Thérapeutiques Anticancéreuses," CNRS, Gustave Roussy, Université Paris-Sud, Université Paris-Saclay, Villejuif, France.

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http://dx.doi.org/10.1158/1078-0432.CCR-19-0126DOI Listing
November 2019

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

Central nervous system complications in adult cystinosis patients.

J Inherit Metab Dis 2020 Mar 18;43(2):348-356. Epub 2019 Sep 18.

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
March 2020

Neural and behavioral signature of human social perception.

Sci Rep 2019 06 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

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

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

Int J Legal Med 2020 Mar 7;134(2):625-635. 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
March 2020

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

Dev Med Child Neurol 2020 02 3;62(2):227-233. 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
February 2020

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

2019 07 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

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

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

Prenat Diagn 2019 08 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

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

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

Arterial Spin Labeling and Central Precocious Puberty.

Clin Neuroradiol 2020 Mar 5;30(1):137-144. 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
March 2020

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

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

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