Publications by authors named "Christine Coubes"

37Publications

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Hum Genet 2020 Apr 24;139(4):461-472. Epub 2020 Jan 24.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, 14, Rue Gaffarel, 21079, Dijon Cedex, France.

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http://dx.doi.org/10.1007/s00439-019-02102-9DOI Listing
April 2020

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.

BMC Med Genomics 2019 08 2;12(1):116. Epub 2019 Aug 2.

Unité de Génétique Chromosomique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1186/s12920-019-0558-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679470PMC
August 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

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

J Med Genet 2019 08 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

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

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

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

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

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

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

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

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

Genet Med 2018 02 3;20(2):269-274. Epub 2017 Aug 3.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1038/gim.2017.109DOI Listing
February 2018

Prader-Willi syndrome: is there a recognizable fetal phenotype?

Prenat Diagn 2008 Sep;28(9):796-9

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Centre Hospitalier Régional et Universitaire, Montpellier, France.

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http://dx.doi.org/10.1002/pd.1973DOI Listing
September 2008

Deep brain stimulation in myoclonus-dystonia syndrome.

Mov Disord 2004 Jun;19(6):724-7

Department of Neurosurgery, Research Group on Movement Disorders in Children, Gui de Chauliac University Hospital, Montpellier, France.

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http://dx.doi.org/10.1002/mds.20030DOI Listing
June 2004