Cyril Mignot

Cyril Mignot

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Cyril Mignot

Cyril Mignot

Publications by authors named "Cyril Mignot"

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

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

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.

Eur J Med Genet 2019 Sep 30:103777. Epub 2019 Sep 30.

APHP, UF de Génétique clinique, Centre de Référence Maladies Rares « Anomalies du développement et syndromes malformatifs », Hôpital Armand Trousseau, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103777DOI Listing
September 2019

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

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

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

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

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

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

Eur J Paediatr Neurol 2019 May 22;23(3):448-455. Epub 2019 Feb 22.

Department of Pediatrics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.02.004DOI Listing
May 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

Brain Dev 2018 Oct 31;40(9):768-774. Epub 2018 May 31.

Centre de Référence Déficience Intellectuelle de Causes Rares, Paris, France; APHP, Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, Paris, France; APHP, Centre de Référence des Mouvements Anormaux de l'Enfant, Hôpital Armand Trousseau, Paris, France; Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183021
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http://dx.doi.org/10.1016/j.braindev.2018.05.008DOI Listing
October 2018

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

J Neurol Sci 2018 08 22;391:31-39. Epub 2018 May 22.

Département de Neurochirurgie, Centre Hospitalier Régional Montpellier, France; Unité de Recherche sur les Comportements et Mouvements Anormaux (URCMA), France; UMR 5203 CNRS-U1191 INSERM-UM-Institut de Génomique Fonctionnelle - IGF, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.05.018DOI Listing
August 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Am J Med Genet A 2017 Aug 9;173(8):2268-2274. Epub 2017 Jun 9.

Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.38307DOI Listing
August 2017

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 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

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.

Case Rep Psychiatry 2017 25;2017:7582780. Epub 2017 May 25.

Department of Child and Adolescent Psychiatry, Reference Centre for Rare Psychiatric Diseases, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie, 47-83 Bd de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1155/2017/7582780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463149PMC
May 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

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.

J Invest Dermatol 2016 05 29;136(5):1060-1062. Epub 2016 Jan 29.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalo-Universitaire Dijon-Bourgogne, Dijon, France; Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2016.01.015DOI Listing
May 2016

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Orphanet J Rare Dis 2016 04 29;11(1):52. Epub 2016 Apr 29.

Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-04
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http://dx.doi.org/10.1186/s13023-016-0433-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850685PMC
April 2016

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

J Neuropathol Exp Neurol 2016 Mar 9;75(3):227-38. Epub 2016 Feb 9.

From the Department of Radiology (NP), Pathology Laboratory (MC, AL), and Department of Metabolic Biochemistry (AS, SB), Rouen University Hospital, Rouen, France; Pathology Department (HAB), Lariboisière University Hospital, Rouen, France; Pathology Laboratory (MB), Jean Verdier University Hospital, Paris-Bondy, Rouen, France; Biochemistry and Genetics Laboratory (AB), Bicêtre University Hospital, Paris-le Kremlin Bicêtre, Paris, France; Department of Obstetrics and Gynecology (LC), Jean Verdier University Hospital, Paris-Bondy, France; Intensive Care Unit (CM), Trousseau University Hospital, Paris, France; Belvédère Maternity Hospital (LT), Mont Saint Aignan, France; and NeoVasc Region-Inserm Team ERI28, Laboratory of Microvascular Endothelium and Neonate Brain Lesions (SB, AL), Institute for Research and Innovation in Biomedicine, University of Rouen, Rouen, France.

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http://jnen.oxfordjournals.org/content/jnen/early/2016/02/09
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http://jnen.oxfordjournals.org/lookup/doi/10.1093/jnen/nlv02
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http://dx.doi.org/10.1093/jnen/nlv022DOI Listing
March 2016

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Dev Med Child Neurol 2015 Dec 23;57(12):1183-6. Epub 2015 Sep 23.

Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1111/dmcn.12927DOI Listing
December 2015

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

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http://dx.doi.org/10.1212/WNL.0000000000002058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676753PMC
December 2015

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

Mov Disord 2015 Sep 24;30(10):1431-2. Epub 2015 Jul 24.

Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, Paris, France.

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http://dx.doi.org/10.1002/mds.26303DOI Listing
September 2015

DYRK1A mutations in two unrelated patients.

Eur J Med Genet 2015 Mar 30;58(3):168-74. Epub 2015 Jan 30.

Centre de Génétique Humaine, CHU Besançon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.014DOI Listing
March 2015

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Orphanet J Rare Dis 2014 Dec 11;9:207. Epub 2014 Dec 11.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Unité Fonctionnelle de Neurogénétique moléculaire et cellulaire et Centre de Référence des Déficiences Intellectuelles de Causes Rares, 47-83 boulevard de l'hôpital, Paris, 75013, France.

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http://dx.doi.org/10.1186/s13023-014-0207-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266234PMC
December 2014

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Am J Hum Genet 2014 Jul;95(1):113-20

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085634PMC
July 2014

Gaucher disease.

Handb Clin Neurol 2013 ;113:1709-15

Pediatric Neurology Service, Pathologie du Développement, Hôpital Trousseau, Université Pierre et Marie Curie-Paris VI, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00040-XDOI Listing
March 2014

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Eur J Hum Genet 2014 Jan 1;22(1):71-8. Epub 2013 May 1.

1] INSERM, U975 (CRICM), Institut du cerveau et de la moelle épinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France [2] CNRS 7225 (CRICM), Hôpital Pitié-Salpêtrière, Paris, France [3] Université Pierre et Marie Curie-Paris-6 (UPMC), UMR_S 975, Paris, France [4] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, France [5] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865413PMC
January 2014

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Eur J Med Genet 2013 Apr 19;56(4):226-8. Epub 2013 Jan 19.

Départment of Genetics, Univ Paris Diderot Sorbonne Paris Cité, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.005DOI Listing
April 2013

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.

Brain Dev 2013 Feb 26;35(2):172-6. Epub 2012 Apr 26.

APHP, Groupe Hospitalier Pitié Salpêtrière, Unité Fonctionnelle de Génétique Médicale, Paris, France.

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http://dx.doi.org/10.1016/j.braindev.2012.03.010DOI Listing
February 2013

Retinal involvement in two unrelated patients with Myhre syndrome.

Eur J Med Genet 2012 Oct 7;55(10):541-7. Epub 2012 Jun 7.

Unité Fonctionnelle de Génétique Médicale, Groupe Hospitalier Pitié Salpêtrière, APHP 47-83, boulevard de l'hôpital, 75651 Paris cedex 13, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.05.006DOI Listing
October 2012

Deletion of filamin A in two female patients with periventricular nodular heterotopia.

Am J Med Genet A 2012 Jun 20;158A(6):1512-6. Epub 2012 Apr 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35409DOI Listing
June 2012

In memoriam. Professor Emeritus Jean Montreuil (1920-2010). A lifetime dedicated to the progress of science and education.

Cytometry B Clin Cytom 2011 Mar 14;80(2):69-70. Epub 2011 Jan 14.

National Institute for Biological Science Research & Development Bucharest and "V. Goldis", Western University of Arad, Faculty of Natural Sciences, Romania.

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http://dx.doi.org/10.1002/cyto.b.20585DOI Listing
March 2011

Microcephaly: a radiological review.

Pediatr Radiol 2009 Aug 13;39(8):772-80; quiz 888-9. Epub 2009 May 13.

Radiology Department, Hôpital d'Enfants Armand-Trousseau, Université Paris VI Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1007/s00247-009-1266-xDOI Listing
August 2009

Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.

Brain Dev 2009 Mar 26;31(3):244-7. Epub 2008 Jun 26.

AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, F-750012 Paris, France.

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http://dx.doi.org/10.1016/j.braindev.2008.05.005DOI Listing
March 2009

Type 2 Gaucher disease: 15 new cases and review of the literature.

Brain Dev 2006 Jan;28(1):39-48

Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, AP-HP, Paris, Centre de Référence des Maladies Lysosomiales, 26 avenue du docteur Arnold Netter, 75012 Paris, France

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http://dx.doi.org/10.1016/j.braindev.2005.04.005DOI Listing
January 2006