Nadege Calmels

Nadege Calmels

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Nadege Calmels

Nadege Calmels

Publications by authors named "Nadege Calmels"

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10Publications

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Renal disease in Cockayne syndrome.

Eur J Med Genet 2019 Jan 7. Epub 2019 Jan 7.

Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.002DOI Listing
January 2019

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

Eur J Hum Genet 2018 04 8;26(4):527-536. Epub 2018 Feb 8.

Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, 1 place de l'hôpital, Strasbourg, 67091, France.

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http://www.nature.com/articles/s41431-017-0009-y
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http://dx.doi.org/10.1038/s41431-017-0009-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891492PMC
April 2018

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Prenat Diagn 2016 Dec 2;36(13):1276-1279. Epub 2016 Dec 2.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs de l'Est, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1002/pd.4965DOI Listing
December 2016

Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification.

Neurology 2016 08;87(6):e56-7

From Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics (A.G.S., N.S., P.S.), and Department of Radiodiagnosis (S.V.), Post Graduate Institute of Medical Education and Research, Chandigarh, India; Laboratory of Medical Genetics (V.L.), Faculte de Medecine; and Laboratoire de Diagnostic Génétique (N.C.), Hôpitaux Universitaires de Strasbourg, France.

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http://dx.doi.org/10.1212/WNL.0000000000002949DOI Listing
August 2016

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

Clin Neurophysiol 2015 Jul 20;126(7):1435-9. Epub 2014 Oct 20.

Laboratoire de Génétique Médicale, INSERM 1112, Faculté de Médecine, F-67085 Strasbourg, France.

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http://dx.doi.org/10.1016/j.clinph.2014.10.014DOI Listing
July 2015

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.

BMC Neurol 2009 Aug 24;9:46. Epub 2009 Aug 24.

IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), CNRS/INSERM/Université Louis Pasteur, Illkirch cedex, France.

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http://bmcneurol.biomedcentral.com/articles/10.1186/1471-237
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http://dx.doi.org/10.1186/1471-2377-9-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2744904PMC
August 2009