Publications by authors named "Nadege Calmels"

16Publications

Growth charts in Cockayne syndrome type 1 and type 2.

Eur J Med Genet 2020 Nov 20:104105. Epub 2020 Nov 20.

Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg; Laboratoire de Génétique médicale, INSERM U1112, Institut de génétique médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2020.104105DOI Listing
November 2020

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.

Clin Genet 2020 Sep 28;98(3):251-260. Epub 2020 Jul 28.

Laboratoires de Diagnostic Génétique, Institut de génétique médicale d'Alsace, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1111/cge.13798DOI Listing
September 2020

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.

Sci Rep 2020 01 24;10(1):1105. Epub 2020 Jan 24.

IGBMC, Department of Functional Genomics and Cancer, Equipe Labellisée Ligue 2014, CNRS/INSERM/University of Strasbourg, BP 163, 67404 Illkirch Cedex, C.U., Strasbourg, France.

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http://dx.doi.org/10.1038/s41598-020-57999-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981198PMC
January 2020

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

Eur J Med Genet 2020 Apr 21;63(4):103857. Epub 2020 Jan 21.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103857DOI Listing
April 2020

Renal disease in Cockayne syndrome.

Eur J Med Genet 2020 Jan 7;63(1):103612. 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 2020

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