Publications by authors named "Marie-Therese Zabot"

25Publications

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

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.

Hum Mol Genet 2015 May 4;24(10):2764-70. Epub 2015 Feb 4.

National Reference Centre for Marfan Syndrome and Related Disorders, Service de Cardiologie, Centre Hospitalier Universitaire Xavier Bichat, Assistance Publique Hôpitaux de Paris, 75018 Paris, France,

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http://dx.doi.org/10.1093/hmg/ddv037DOI Listing
May 2015

Protective effect of Basella alba and Carpolobia alba extracts against maneb-induced male infertility.

Pharm Biol 2014 Jan 30;52(1):97-104. Epub 2013 Sep 30.

Department of Biochemistry and Molecular Biology, Faculty of Science, University of Buea , Buea , Cameroon .

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http://www.tandfonline.com/doi/full/10.3109/13880209.2013.81
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http://dx.doi.org/10.3109/13880209.2013.816860DOI Listing
January 2014

Effect of agropesticides use on male reproductive function: a study on farmers in Djutitsa (Cameroon).

Environ Toxicol 2012 Jul 29;27(7):423-32. Epub 2010 Nov 29.

Laboratory of Pharmacology and Toxicology, Department of Biochemistry, Faculty of Science, University of Yaoundé I, P.O. Box 812, Yaoundé, Cameroon.

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http://dx.doi.org/10.1002/tox.20656DOI Listing
July 2012

Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.

PLoS Comput Biol 2011 Jan 20;7(1):e1001054. Epub 2011 Jan 20.

The Center for Integrative Genomics, Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://dx.plos.org/10.1371/journal.pcbi.1001054
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http://dx.doi.org/10.1371/journal.pcbi.1001054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3024257PMC
January 2011

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Biochim Biophys Acta 2011 May 2;1812(5):619-24. Epub 2011 Feb 2.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Gifu 501-1194, Japan.

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http://dx.doi.org/10.1016/j.bbadis.2011.01.015DOI Listing
May 2011

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

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.

Am J Med Genet A 2009 Nov;149A(11):2584-7

Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.32772DOI Listing
November 2009

Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Mol Genet Metab 2007 Dec 23;92(4):375-8. Epub 2007 Aug 23.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2007.07.007DOI Listing
December 2007

Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes.

J Invest Dermatol 2006 Feb;126(2):283-90

Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1038/sj.jid.5700047DOI Listing
February 2006

Molecular pathology of NEU1 gene in sialidosis.

Hum Mutat 2003 Nov;22(5):343-52

Service de Génétique Médicale, Hôpital Sainte-Justine, Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Canada.

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http://doi.wiley.com/10.1002/humu.10268
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http://dx.doi.org/10.1002/humu.10268DOI Listing
November 2003

Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.

Pediatr Res 2003 May 5;53(5):793-9. Epub 2003 Mar 5.

Unité de Recherche Mixte INSERM U530-Université Paris 5, Centre Universitaire des Saints-Pères, France.

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http://dx.doi.org/10.1203/01.PDR.0000057987.46622.64DOI Listing
May 2003

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

Hum Mutat 2002 Jul;20(1):74

Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1002/humu.9038DOI Listing
July 2002