Thierry Frebourg

Thierry Frebourg

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Thierry Frebourg

Publications by authors named "Thierry Frebourg"

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Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

Am J Med Genet A 2019 Aug 7. Epub 2019 Aug 7.

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

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http://dx.doi.org/10.1002/ajmg.a.61317DOI Listing
August 2019

Glutamate controls vessel-associated migration of GABA interneurons from the pial migratory route via NMDA receptors and endothelial protease activation.

Cell Mol Life Sci 2019 Aug 7. Epub 2019 Aug 7.

Normandie University, UNIROUEN, INSERM U1245 and Rouen University Hospital, Department of Neonatal Paediatrics and Intensive Care, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1007/s00018-019-03248-5DOI Listing
August 2019

Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.

Pediatr Dev Pathol 2019 Mar-Apr;22(2):146-151. Epub 2018 Sep 7.

2 Service d'anatomopathologie, CHU Charles Nicolle, Rouen, France.

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http://journals.sagepub.com/doi/10.1177/1093526618799293
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http://dx.doi.org/10.1177/1093526618799293DOI Listing
April 2019

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

Int J Cancer 2019 04 13;144(8):1962-1974. Epub 2018 Nov 13.

Inserm, Paris, France.

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http://doi.wiley.com/10.1002/ijc.31921
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http://dx.doi.org/10.1002/ijc.31921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587727PMC
April 2019

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

J Alzheimers Dis 2018 ;62(2):821-831

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.3233/JAD-170981DOI Listing
February 2019

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.

J Alzheimers Dis 2019 ;68(3):1243-1255

Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.3233/JAD-180940DOI Listing
January 2019

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Alzheimers Dement 2018 Dec 13;14(12):1632-1639. Epub 2018 Aug 13.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jalz.2018.06.3056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544509PMC
December 2018

Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila.

Acta Neuropathol Commun 2018 12 12;6(1):138. Epub 2018 Dec 12.

Normandie University, UNIROUEN, Inserm, U1245, IRIB, Rouen, France.

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http://dx.doi.org/10.1186/s40478-018-0639-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292132PMC
December 2018

FTLD/ALS-linked TDP-43 mutations do not alter TDP-43's ability to self-regulate its expression in Drosophila.

Brain Res 2018 09 17;1695:1-9. Epub 2018 May 17.

Normandie University, UNIROUEN, Inserm, U1245, IRIB, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2018.05.021DOI Listing
September 2018

Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations.

Eur J Cancer 2018 09 30;101:254-262. Epub 2018 Jul 30.

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

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http://dx.doi.org/10.1016/j.ejca.2018.06.011DOI Listing
September 2018

Gestational choriocarcinoma associated with a germline TP53 mutation.

Fam Cancer 2018 01;17(1):113-117

Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France.

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http://dx.doi.org/10.1007/s10689-017-9996-7DOI Listing
January 2018

Lung Adenocarcinoma as Part of the Li-Fraumeni Syndrome Spectrum: Preliminary Data of the LIFSCREEN Randomized Clinical Trial.

JAMA Oncol 2017 12;3(12):1736-1737

Département de Cancérologie de l’enfant et de l’adolescent,Gustave Roussy Hôpital Universitaire, Villejuif, France

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http://dx.doi.org/10.1001/jamaoncol.2017.1358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824279PMC
December 2017

Direct circulating tumor DNA detection from unpurified plasma using a digital PCR platform.

Clin Biochem 2017 Nov 20;50(16-17):963-966. Epub 2017 Jun 20.

Normandie Univ, UNIROUEN, Inserm U1245, IRON group, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, F 76000 Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2017.06.005DOI Listing
November 2017

Heparinase enables reliable quantification of circulating tumor DNA from heparinized plasma samples by droplet digital PCR.

Clin Chim Acta 2017 Sep 17;472:75-79. Epub 2017 Jul 17.

Normandie Univ, UNIROUEN, Inserm U1245, IRON group, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, F 76000 Rouen, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981173027
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http://dx.doi.org/10.1016/j.cca.2017.07.015DOI Listing
September 2017

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

Neurobiol Dis 2017 Aug 28;104:97-103. Epub 2017 Apr 28.

Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.04.020DOI Listing
August 2017

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Hum Mol Genet 2017 07;26(14):2591-2602

Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1093/hmg/ddx106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886078PMC
July 2017

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Hum Mol Genet 2017 07;26(14):2812

Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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https://academic.oup.com/hmg/article/26/14/2812/3788028
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http://dx.doi.org/10.1093/hmg/ddx165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886279PMC
July 2017

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.

Clin Cancer Res 2017 Jun;23(11):e32-e37

Child and Adolescent Cancer Department, Gustave Roussy Cancer Campus, Villejuif, France.

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http://dx.doi.org/10.1158/1078-0432.CCR-17-0574DOI Listing
June 2017

BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer.

Fam Cancer 2017 04;16(2):167-171

Laboratoire de Biologie et Génétique du Cancer - Centre Normand de Génomique Médicale et Médecine Personnalisée, Centre François Baclesse, 3 avenue du général Harris, 14076, Caen Cedex 05, France.

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http://dx.doi.org/10.1007/s10689-016-9940-2DOI Listing
April 2017

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

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

XPR1 mutations are a rare cause of primary familial brain calcification.

J Neurol 2016 Aug 26;263(8):1559-64. Epub 2016 May 26.

Faculté de Médecine, Inserm U1079, University of Rouen, IRIB, Normandy University, 22 Boulevard Gambetta, 76183, Rouen, France.

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http://link.springer.com/10.1007/s00415-016-8166-4
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http://dx.doi.org/10.1007/s00415-016-8166-4DOI Listing
August 2016

ABCA7 rare variants and Alzheimer disease risk.

Neurology 2016 Jun 1;86(23):2134-7. Epub 2016 Apr 1.

From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France.

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http://dx.doi.org/10.1212/WNL.0000000000002627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898320PMC
June 2016

GENESIS: a French national resource to study the missing heritability of breast cancer.

BMC Cancer 2016 Jan 12;16:13. Epub 2016 Jan 12.

Inserm, U900, Paris, France.

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http://dx.doi.org/10.1186/s12885-015-2028-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711059PMC
January 2016

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

Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis.

Proc Natl Acad Sci U S A 2015 Nov 2;112(46):E6349-58. Epub 2015 Nov 2.

Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre, Singapore 169610, Singapore; Cancer and Stem Cell Biology Program, Duke-NUS Graduate Medical School, Singapore 169857, Singapore; Department of Biochemistry, National University of Singapore, Singapore 117597, Singapore

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http://dx.doi.org/10.1073/pnas.1510043112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655557PMC
November 2015

Clinical value of chip-based digital-PCR platform for the detection of circulating DNA in metastatic colorectal cancer.

Dig Liver Dis 2015 Oct 5;47(10):884-90. Epub 2015 Jun 5.

Digestive Oncology Unit, Department of Hepato-Gastroenterology, Rouen University Hospital, Rouen Cedex, France; EquIpe de Recherche Onco-Normande (IRON), Rouen University Hospital, Rouen Cedex, France; Inserm U1079, University of Rouen, Institute for Biomedical Research and Innovation, Rouen Cedex, France; Department of Medical Oncology, Centre Henri Becquerel, Rouen Cedex 1, France.

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http://dx.doi.org/10.1016/j.dld.2015.05.023DOI Listing
October 2015

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

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Eur J Hum Genet 2014 Oct 12;22(10):1236-8. Epub 2014 Feb 12.

1] Inserm U1079, Rouen, France [2] IRIB, Normandie University, Rouen, France [3] Department of Genetics, Rouen University Hospital, Rouen, France [4] CNR-MAJ, Lille, Paris-Salpêtrière and Rouen University Hospitals, Paris, France [5] Department of Neurology, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1038/ejhg.2014.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169546PMC
October 2014

The challenge for the next generation of medical geneticists.

Authors:
Thierry Frebourg

Hum Mutat 2014 Aug 28;35(8):909-11. Epub 2014 Jun 28.

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

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http://dx.doi.org/10.1002/humu.22592DOI Listing
August 2014

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Eur J Med Genet 2014 Apr 22;57(5):200-6. Epub 2014 Jan 22.

Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.012DOI Listing
April 2014

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

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Am J Med Genet A 2014 Jan 20;164A(1):177-81. Epub 2013 Nov 20.

Département de Génétique Médicale, Centre Hospitalier Universitaire, Montpellier, France.

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http://dx.doi.org/10.1002/ajmg.a.36166DOI Listing
January 2014

Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.

Hum Mutat 2013 Nov 18;34(11):1547-57. Epub 2013 Sep 18.

Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, Italy.

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http://dx.doi.org/10.1002/humu.22428DOI Listing
November 2013