Publications by authors named "Stephanie Baert-Desurmont"

36Publications

Blood functional assay for rapid clinical interpretation of germline variants.

J Med Genet 2020 Oct 13. Epub 2020 Oct 13.

Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F76000, Normandy Centre for Genomic and Personalized Medicine, University of Rouen Faculty of Medicine and Pharmacy, Rouen, France.

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http://dx.doi.org/10.1136/jmedgenet-2020-107059DOI Listing
October 2020

Characterisation of heterozygous variants in French patients with Lynch syndrome.

J Med Genet 2020 Jul 28;57(7):487-499. Epub 2020 Jan 28.

Department of Genetics, Rouen University Hospital and UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1136/jmedgenet-2019-106256DOI Listing
July 2020

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Acta Neuropathol Commun 2019 12 3;7(1):191. Epub 2019 Dec 3.

Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.

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http://dx.doi.org/10.1186/s40478-019-0841-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892231PMC
December 2019

Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.

Eur J Med Genet 2020 Apr 24;63(4):103773. Epub 2019 Sep 24.

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, F76000, Rouen, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103773DOI Listing
April 2020

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Genes Chromosomes Cancer 2017 02 25;56(2):128-134. Epub 2016 Oct 25.

Inserm U1079, Faculty of Medicine, UNIROUEN, Normandie Univ and Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1002/gcc.22419DOI Listing
February 2017

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

PLoS Genet 2016 Jan 13;12(1):e1005756. Epub 2016 Jan 13.

Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1371/journal.pgen.1005756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711968PMC
January 2016

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

J Clin Oncol 2015 Jul 26;33(21):2345-52. Epub 2015 May 26.

Gaëlle Bougeard, Mariette Renaux-Petel, Jean-Michel Flaman, Camille Charbonnier, Pierre Fermey, Julie Tinat, Stéphanie Baert-Desurmont, Thierry Frebourg, Institut National de la Santé et de la Recherche Médicale (Inserm) U1079, University of Rouen, Institute for Research and Innovation in Biomedicine; Julie Tinat, Stéphanie Baert-Desurmont, Thierry Frebourg, University Hospital, Rouen; Muriel Belotti, Marion Gauthier-Villars, Dominique Stoppa-Lyonnet, Curie Institute, Paris; Emilie Consolino, Laurence Brugières, Olivier Caron, Patrick R. Benusiglio, Brigitte Bressac-de Paillerets, Gustave Roussy Institute, Villejuif; Valérie Bonadona, Centre National de la Recherche Scientifique (CNRS) UMR 5558, University of Lyon 1, Leon Berard Cancer Center, Lyon; and Catherine Bonaïti-Pellié, Inserm UMR-S 669, University of Paris-Sud, Villejuif, France.

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http://jco.ascopubs.org/content/early/2015/05/22/JCO.2014.59
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http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2014.59.5728
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http://dx.doi.org/10.1200/JCO.2014.59.5728DOI Listing
July 2015

Transmission of germline TP53 mutations from male carriers to female partners.

J Med Genet 2015 Mar 22;52(3):145-6. Epub 2015 Jan 22.

Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France Department of Genetics, University Hospital, Rouen, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102853DOI Listing
March 2015

Genomic variations integrated database for MUTYH-associated adenomatous polyposis.

J Med Genet 2015 Jan 3;52(1):25-7. Epub 2014 Nov 3.

INSERM UMR_S910, Marseille, France Departments of medical Genetics and Gastroenterology, AP-HM La Timone, Marseille, France Gastroenterology Department, European Hospital, Marseille, France Oncology Department, Clairval Hospital, Marseille, France The first two authors contributed equally to this work.

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http://dx.doi.org/10.1136/jmedgenet-2014-102752DOI Listing
January 2015

The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome.

Fam Cancer 2014 Mar;13(1):127-30

Inserm U1079, Institute for Research and Innovation in Biomedicine, University of Rouen, 76183, Rouen, France.

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http://dx.doi.org/10.1007/s10689-013-9667-2DOI Listing
March 2014

A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis.

Am J Med Genet A 2011 Jun 12;155A(6):1500-2. Epub 2011 May 12.

Inserm U, Faculty of Medicine, University of Rouen, Department of Genetics, University Hospital, Institute for Medical Research and Innovation, France.

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http://dx.doi.org/10.1002/ajmg.a.34017DOI Listing
June 2011

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.

Eur J Hum Genet 2011 Aug 16;19(8):887-92. Epub 2011 Mar 16.

Inserm U614, Faculty of Medicine, Institute for Biomedical Research and Innovation, University of Rouen, Rouen, France.

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http://dx.doi.org/10.1038/ejhg.2011.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172927PMC
August 2011

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers.

J Cancer Epidemiol 2009 8;2009:791754. Epub 2009 Mar 8.

Institut National de la Santé et de la Recherche Médicale (INSERM), Unité 891, Centre de Recherches en Cancérologie de Marseille, 13009 Marseille, France.

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http://dx.doi.org/10.1155/2009/791754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859022PMC
July 2011

Duodenal adenocarcinoma and Mut Y human homologue-associated polyposis.

Eur J Gastroenterol Hepatol 2008 Oct;20(10):1024-7

Department of Genetics, Georges Pompidou European Hospital, Paris, France.

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http://dx.doi.org/10.1097/MEG.0b013e3282f5f749DOI Listing
October 2008

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Hum Mutat 2008 Dec;29(12):1412-24

Inserm U614, Federate Institute for Multidisciplinary Research on Peptides, Faculty of Medicine, University of Rouen, Department of Genetics and Institute for Biomedical Research, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/humu.20796DOI Listing
December 2008

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.

Eur J Hum Genet 2007 Mar 17;15(3):383-6. Epub 2007 Jan 17.

Inserm U614, Faculty of Medicine, Rouen, France and Department of Genetics, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201765DOI Listing
March 2007