Publications by authors named "Isabelle Rouvet"

16Publications

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.

J Exp Med 2016 05 16;213(6):1011-28. Epub 2016 May 16.

Genome Dynamics in the Immune System Laboratory, Institut National de la Santé et de la Recherche Médicale, UMR 1163, Institut Imagine, Université Paris Descartes, Sorbonne Paris Cité, 75006 Paris, France

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http://jem.rupress.org/content/213/6/1011.full.pdf
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http://www.jem.org/lookup/doi/10.1084/jem.20151183
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http://dx.doi.org/10.1084/jem.20151183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886357PMC
May 2016

Influence of Nucleoshuttling of the ATM Protein in the Healthy Tissues Response to Radiation Therapy: Toward a Molecular Classification of Human Radiosensitivity.

Int J Radiat Oncol Biol Phys 2016 Mar 14;94(3):450-60. Epub 2015 Nov 14.

INSERM, UMR1052, Cancer Research Centre of Lyon, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ijrobp.2015.11.013DOI Listing
March 2016

Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes.

DNA Cell Biol 2015 Jul 7;34(7):489-96. Epub 2015 Apr 7.

1 Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est-Hospices Civils de Lyon , Bron, France .

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http://www.liebertpub.com/doi/10.1089/dna.2015.2842
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http://dx.doi.org/10.1089/dna.2015.2842DOI Listing
July 2015

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Neurology 2013 Oct 11;81(17):1523-30. Epub 2013 Sep 11.

From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; INSERM U692 (A.E.-L.), Université de Strasbourg, France; Unit of Molecular Neurogenetics (D.G., L.M., M.Z.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Service des Maladies Héréditaires du Métabolisme (M.C., M.M., S.P., B.M.deC.), Centre de Biotechnologie Cellulaire (I.R.), Unité de Cardiogénétique Moléculaire (D.B.), and Service de Neurobiologie (P.L.), Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France; and Département d'Anatomopathologie (B.L.), Hôpitaux Universitaires, Strasbourg, France.

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http://dx.doi.org/10.1212/WNL.0b013e3182a4a518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888171PMC
October 2013

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

Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case.

J Invest Dermatol 2010 Nov 8;130(11):2594-601. Epub 2010 Jul 8.

Institut de Biologie et Chimie des Protéines, Université Claude Bernard, Lyon, France.

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http://dx.doi.org/10.1038/jid.2010.186DOI Listing
November 2010