Vincent des Portes

Vincent des Portes

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Vincent des Portes

Vincent des Portes

Publications by authors named "Vincent des Portes"

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79Publications

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Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Dev Med Child Neurol 2019 Aug 13. Epub 2019 Aug 13.

Centre de Compétence des Leucodystrophies et Leucoencéphalopathies de Cause Rare, Pôle Femme et Enfant, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1111/dmcn.14332DOI Listing
August 2019

Fetal and perinatal outcome associated with small cerebellar diameter based on second- or third-trimester ultrasonography.

Prenat Diagn 2019 Jun 29;39(7):536-543. Epub 2019 May 29.

Hospices Civils de Lyon, Department of Obstetrics and Gynecology, Hôpital Femme Mère Enfant, Université Claude Bernard, Lyon 1, Bron-, Lyon, 69500, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/pd.5465
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http://dx.doi.org/10.1002/pd.5465DOI Listing
June 2019

Basal ganglia involvement in patients: The reason for patients very specific grasping?

Neuroimage Clin 2018 5;19:454-465. Epub 2018 Apr 5.

Psychiatric Neuroimaging Program, Department of Psychiatry, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA; Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.nicl.2018.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029499PMC
January 2019

Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

Eur J Paediatr Neurol 2018 Nov 21;22(6):1124-1132. Epub 2018 Jul 21.

Department of Medical Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon 1 University, Lyon, France; INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Centre (CRNL), Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.07.004DOI Listing
November 2018

[Disabled child. Orientation and management].

Rev Prat 2018 Oct;68(8):e327-e334

PU-PH, neuropédiatrie, CHU de Lyon - université Lyon 1, chef de service, service de neuropédiatrie, hôpital Femme-Mère-Enfant, 69677 Bron Cedex, France.

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October 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

Expanding Porencephalic Cysts: Prenatal Imaging and Differential Diagnosis.

Fetal Diagn Ther 2017 14;41(3):226-233. Epub 2016 Jul 14.

Département d'Imagerie Pédiatrique et Fœtale, Hôpital Femme Mère Enfant, Lyon-Bron, France.

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http://dx.doi.org/10.1159/000447740DOI Listing
February 2018

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

Eur J Paediatr Neurol 2018 Jan 5;22(1):82-92. Epub 2017 Sep 5.

Université de Lyon, F-69008 Lyon, France; Radiologie pédiatrique et médecine fœtale, Hôpital Femme Mère Enfant, F-69677 Bron, France.

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http://dx.doi.org/10.1016/j.ejpn.2017.08.003DOI Listing
January 2018

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

Psychiatr Genet 2017 06;27(3):105-109

aClaude Bernard Lyon 1 University bInstitute of Cognitive Science, CNRS UMR 5304 cFrench National Reference Center for Rare Diseases with Intellectual Disability dReference Center on Learning Disabilities, Pediatric Functional Rehabilitation Department, Escale, Women Mothers and Children Hospital eDepartment of Child Psychiatry, Neurological Hospital fDepartment of Medical Genetics, Lyon University Hospital gCNRS UMR 5292, INSERM U1028, CNRL hDepartment of Child Psychiatry, Saint Jean de Dieu Hospital, Lyon, France.

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http://dx.doi.org/10.1097/YPG.0000000000000165DOI Listing
June 2017

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

Certainty of genuine treatment increases drug responses among intellectually disabled patients.

Neurology 2017 May 19;88(20):1912-1918. Epub 2017 Apr 19.

From the Department of Clinical Neuroscience (K.B.J., M.P., A.R.), Karolinska Institute, Sweden; Program in Placebo Studies (I.K., T.J.K.), BIDMC, Harvard Medical School; Department of Psychiatry (K.Y., R.L.G.), Massachusetts General Hospital, Boston; Institut des Sciences Cognitives (V.d.P., A.C.), Bron; Université Claude Bernard Lyon 1 (V.d.P., A.C.); Centre de Référence Déficiences Intellectuelles de Causes Rares (V.d.P., A.C.), Hôpital Femmes Mères Enfants, Hospices Civils de Lyon; and EPICIME-CIC1407/INSERM (A.C.), Bron, France.

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http://dx.doi.org/10.1212/WNL.0000000000003934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444309PMC
May 2017

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.

Cytogenet Genome Res 2015 16;147(2-3):111-7. Epub 2015 Dec 16.

Laboratoire de Cytogx00E9;nx00E9;tique Constitutionnelle, Service de Gx00E9;nx00E9;tique, Centre de Biologie et de Pathologie Est, Bron, France.

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http://dx.doi.org/10.1159/000442265DOI Listing
August 2016

Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis.

PLoS One 2015 30;10(7):e0133316. Epub 2015 Jul 30.

Department of Psychiatry, Massachusetts General Hospital/Harvard Medical School, Martinos Center for Biomedical Imaging, Boston, Massachusetts, United States of America; Program in Placebo Studies, Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, Massachusetts, United States of America; Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0133316PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520690PMC
May 2016

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Orphanet J Rare Dis 2015 Sep 4;10:111. Epub 2015 Sep 4.

Center for Screening and Treatment of Psychiatric Disorders of Genetic Origin, Vinatier Hospital, 95 Bd Pinel, 69678, Lyon, France.

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http://dx.doi.org/10.1186/s13023-015-0330-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559928PMC
September 2015

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.

Am J Med Genet A 2015 Aug 6;167A(8):1908-12. Epub 2015 Apr 6.

Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37094DOI Listing
August 2015

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

J Neurol Neurosurg Psychiatry 2015 Jul 16;86(7):782-5. Epub 2015 Jan 16.

Service de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1136/jnnp-2014-309025DOI Listing
July 2015

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Eur J Med Genet 2015 Feb 11;58(2):51-8. Epub 2014 Dec 11.

CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France; Department of Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.11.007DOI Listing
February 2015

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Am J Med Genet A 2014 Aug 8;164A(8):2025-8. Epub 2014 Apr 8.

Department of Molecular Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France; CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36547DOI Listing
August 2014

X-linked mental deficiency.

Handb Clin Neurol 2013 ;111:297-306

Reference Center for Fragile X and other X-linked Intellectual Disabilities and Department of Pediatric Neurology, Hôpital Femme Mère Enfant, CHU de Lyon, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00035-XDOI Listing
April 2014

Translating molecular advances in fragile X syndrome into therapy: a review.

J Clin Psychiatry 2014 Apr;75(4):e294-307

Department of Pediatrics and MIND Institute, School of Medicine, University of California, Davis.

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http://www.psychiatrist.com/privatepdf/2014/v75n04/v75n0402.
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http://article.psychiatrist.com/?ContentType=START&ID=10
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http://dx.doi.org/10.4088/JCP.13r08714DOI Listing
April 2014

Neural correlates of non-verbal social interactions: a dual-EEG study.

Neuropsychologia 2014 Mar 21;55:85-97. Epub 2013 Oct 21.

Laboratoire sur le Langage, le Cerveau et la Cognition L2C2, Institut des Sciences Cognitives, CNRS/UCBL, 67 Bd Pinel, 69675 Bron Cedex, France.

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http://dx.doi.org/10.1016/j.neuropsychologia.2013.10.001DOI Listing
March 2014

The challenges of clinical trials in fragile X syndrome.

Psychopharmacology (Berl) 2014 Mar 31;231(6):1237-50. Epub 2013 Oct 31.

Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, 1011, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00213-013-3289-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932172PMC
March 2014

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

Eur J Paediatr Neurol 2014 Mar 18;18(2):176-82. Epub 2013 Nov 18.

Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.

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http://dx.doi.org/10.1016/j.ejpn.2013.11.005DOI Listing
March 2014

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Am J Med Genet A 2013 Dec 16;161A(12):3063-71. Epub 2013 Aug 16.

Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36162DOI Listing
December 2013

Stroke by carotid artery complete occlusion in Kawasaki disease: case report and review of literature.

Pediatr Neurol 2013 Dec 3;49(6):469-73. Epub 2013 Oct 3.

Hospices Civils de Lyon, HFME, Service de Neuropédiatrie, Bron, France; Université Claude Bernard Lyon 1, Lyon, France.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994130053
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http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.011DOI Listing
December 2013

Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.

Eur J Paediatr Neurol 2013 Nov 31;17(6):676-80. Epub 2013 Jul 31.

Pediatric Neurology Department and Center of Reference for Rare Intellectual Disorders, Tuberous Sclerosis and Rare Epileptic Disorders, University Hospitals of Lyon (HCL), Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2013.06.005DOI Listing
November 2013

Motor resonance facilitates movement execution: an ERP and kinematic study.

Front Hum Neurosci 2013 15;7:646. Epub 2013 Oct 15.

Laboratoire sur le Langage, le Cerveau et la Cognition L2C2, Centre National de la Recherche Scientifique/UCBL, UMR 5304, Institut des Sciences Cognitives Lyon, France.

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http://dx.doi.org/10.3389/fnhum.2013.00646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3796768PMC
October 2013

Simultaneous action execution and observation optimise grasping actions.

Exp Brain Res 2013 Jun 25;227(3):407-19. Epub 2013 Apr 25.

Laboratoire sur le Langage, le Cerveau et la Cognition UMR 5304, CNRS/University of Lyon 1, 67, Boulevard Pinel, 69675 Bron Cedex, France.

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http://dx.doi.org/10.1007/s00221-013-3523-3DOI Listing
June 2013

Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings.

Ophthalmic Genet 2012 Dec 12;33(4):240-8. Epub 2012 Apr 12.

Department of Paediatric Ophthalmology, Femme Mère-Enfant Hospital, Bron, France.

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http://dx.doi.org/10.3109/13816810.2012.675396DOI Listing
December 2012

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

Eur J Med Genet 2012 Jun 28;55(6-7):433-6. Epub 2012 Mar 28.

Hospices Civils de Lyon, HFME, Centre de Référence, Déficiences Intellectuelles de Causes Rares, 59 Boulevard Pinel, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.03.008DOI Listing
June 2012

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling.

Prenat Diagn 2012 Feb;32(2):185-93

Département d'Imagerie Pédiatrique et Foetale, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon I, Lyon, France.

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http://dx.doi.org/10.1002/pd.3828DOI Listing
February 2012

Atypical hemispheric asymmetries for the processing of phonological features in children with rolandic epilepsy.

Epilepsy Behav 2011 May 6;21(1):42-51. Epub 2011 Apr 6.

Laboratoire Dynamique du Langage, CNRS UMR 5596, Lyon, France.

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http://dx.doi.org/10.1016/j.yebeh.2011.02.026DOI Listing
May 2011

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

Mitochondrion 2011 Jan 4;11(1):223-7. Epub 2010 Aug 4.

Centre de Biologie et de Pathologie Est - CHU Lyon, Service des Maladies Héréditaires du Métabolisme, 69677 Bron, France.

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http://dx.doi.org/10.1016/j.mito.2010.07.011DOI Listing
January 2011

Ring 14 chromosome presenting as early-onset isolated partial epilepsy.

Dev Med Child Neurol 2009 Nov 31;51(11):917-22. Epub 2009 Mar 31.

Department of Pediatric Neurology, Hôpital Femme Mère Enfant, Lyon, France.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03292.xDOI Listing
November 2009

Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency.

Eur J Med Genet 2009 Jan-Feb;52(1):6-13. Epub 2008 Sep 25.

Institut des Sciences Cognitives, CNRS UMR5230, Université Claude Bernard Lyon 1 and Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.09.003DOI Listing
April 2009

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Ann Neurol 2009 Jan;65(1):114-8

Institut National de la Sante et de la Recherche Mèdicale, U931, GReD CNRS 6247, Faculté de Médecine, Lyon, France.

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http://dx.doi.org/10.1002/ana.21579DOI Listing
January 2009

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Eur J Med Genet 2006 Jul-Aug;49(4):313-22. Epub 2005 Dec 20.

Laboratoire de Génétique, EA 3441, CHU Brabois, avenue du Morvan, 54511 Vandoeuvre-les-Nancy cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.11.002DOI Listing
September 2006

[Convulsions in infants and children].

Rev Prat 2006 Jan;56(2):201-5

Service de Neurologie Pédiatrique, Hôpital Debrousse, Lyon.

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January 2006

Unexplained mental retardation: is brain MRI useful?

Pediatr Radiol 2005 Jun 1;35(6):587-96. Epub 2005 Mar 1.

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

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http://dx.doi.org/10.1007/s00247-005-1406-xDOI Listing
June 2005

[The main stages of psychomotor development from 0 to 3 years of age].

Rev Prat 2004 Nov;54(18):1991-7

Service de neurologie pédiatrique, hôpital Debrousse, hospices civils de Lyon, 69002 Lyon.

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November 2004