Publications by authors named "Florent Marguet"

37Publications

De novo mutations of are responsible for arthrogryposis broadening the -related phenotypes.

J Med Genet 2020 Sep 14. Epub 2020 Sep 14.

Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, France

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http://dx.doi.org/10.1136/jmedgenet-2020-107166DOI Listing
September 2020

In utero alcohol exposure exacerbates endothelial protease activity from pial microvessels and impairs GABA interneuron positioning.

Neurobiol Dis 2020 Nov 3;145:105074. Epub 2020 Sep 3.

Normandie Univ, 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. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2020.105074DOI Listing
November 2020

Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.

Neuromuscul Disord 2020 03 20;30(3):207-212. Epub 2019 Dec 20.

Department of Pathology, Normandie University, UNIROUEN, INSERM U1245, Rouen University Hospital, F76000 Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.12.005DOI Listing
March 2020

[Low-grade dural extranodal marginal zone lymphoma].

Ann Pathol 2020 Jun 13;40(3):243-247. Epub 2020 Jan 13.

Inserm U1245, service d'anatomie pathologique, UNIROUEN, Normandie Université, CHU de Rouen, 76000 Rouen, France.

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http://dx.doi.org/10.1016/j.annpat.2019.12.006DOI Listing
June 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

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

Eur J Med Genet 2020 Apr 23;63(4):103814. Epub 2019 Nov 23.

Normandie Univ, UNIROUEN, INSERM U1245 and Rouen University Hospital, Department of Pathology, F76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103814DOI Listing
April 2020

TERTp Mutation Detection in Plasma by Droplet-Digital Polymerase Chain Reaction in Spinal Myxopapillary Ependymoma with Lung Metastases.

World Neurosurg 2019 Oct 19;130:405-409. Epub 2019 Jul 19.

Department of Medical Oncology, Cancer Centre Henri Becquerel, Rouen, France; IRON Group, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, Normandie University, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.wneu.2019.07.111DOI Listing
October 2019

A new optimization strategy for MALDI FTICR MS tissue analysis for untargeted metabolomics using experimental design and data modeling.

Anal Bioanal Chem 2019 Jul 15;411(17):3891-3903. Epub 2019 May 15.

Normandie Univ, COBRA, UMR 6014 and FR 3038, Université de Rouen, INSA de Rouen, CNRS, IRCOF, 1 rue Tesnière, 76821, Mont-Saint-Aignan, Cedex, France.

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http://dx.doi.org/10.1007/s00216-019-01863-6DOI Listing
July 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
August 2020

Stereotactic brain biopsy: evaluation of robot-assisted procedure in 60 patients.

Acta Neurochir (Wien) 2019 03 24;161(3):545-552. Epub 2019 Jan 24.

Department of Neurosurgery, Rouen University Hospital, 1 rue de Germont, 76000, Rouen, France.

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http://dx.doi.org/10.1007/s00701-019-03808-5DOI Listing
March 2019

Pseudo-Sarcoidosis Revealing MonoMAC Syndrome.

J Clin Immunol 2018 10 2;38(7):739-741. Epub 2018 Oct 2.

Clinical Immunology Department, Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris (APHP) Université Paris Diderot, Paris, France.

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http://dx.doi.org/10.1007/s10875-018-0551-6DOI Listing
October 2018

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

Alzheimers Dement 2018 12 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

Giant epidermoid cyst of the occipital area with bone invasion: A case report.

Int J Health Sci (Qassim) 2018 Jul-Aug;12(4):92-93

Department of Pathology, Rouen University Hospital, Rouen, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040847PMC
July 2018

Early platelet variation during concomitant chemo-radiotherapy predicts adjuvant temozolomide-induced thrombocytopenia in newly diagnosed glioblastoma patients.

Support Care Cancer 2019 Feb 5;27(2):477-484. Epub 2018 Jul 5.

Normandie Univ, UNIROUEN, Inserm U1245, IRON group, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F-76031, Rouen, France.

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http://dx.doi.org/10.1007/s00520-018-4336-5DOI Listing
February 2019

Spinal meningioma and factors predictive of post-operative deterioration.

J Neurooncol 2018 Oct 20;140(1):49-54. Epub 2018 Jun 20.

Department of Neurosurgery, Rouen University Hospital, 1 rue de Germont, 76000, Rouen, France.

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http://dx.doi.org/10.1007/s11060-018-2929-yDOI Listing
October 2018

Early fetal presentation of Koolen-de Vries: Case report with literature review.

Eur J Med Genet 2017 Nov 12;60(11):605-609. Epub 2017 Aug 12.

Department of Pathology, Bordeaux University Hospital, Pellegrin Hospital, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2017.08.012DOI Listing
November 2017

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

Am J Med Genet A 2017 Sep 27;173(9):2522-2527. Epub 2017 Jul 27.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.38342DOI Listing
September 2017

[A mysterious pleural lesion: A case report].

Ann Pathol 2017 Jun 19;37(3):266-269. Epub 2017 May 19.

Service de pathologie, CHU de Rouen, Pavillon Delarue, 1, rue du Germont, 76000 Rouen, France.

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http://dx.doi.org/10.1016/j.annpat.2017.03.002DOI Listing
June 2017

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

J Neuropathol Exp Neurol 2017 03;76(3):195-205

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris and INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris France.

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http://dx.doi.org/10.1093/jnen/nlw124DOI Listing
March 2017

Microangiopathy in primary familial brain calcification: Evidence from skin biopsies.

Neurol Genet 2017 Apr 8;3(2):e134. Epub 2017 Feb 8.

Normandie Univ (G.N., F.L., A.L., D.H.), UNIROUEN, Inserm U1245; Department of Genetics (G.N., D.H.), Department of Pathology (F.M., A.L.), Department of Neurology (D.H.), and CNR-MAJ (G.N., D.H.), Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, Rouen, France; and Keizo Asami Laboratory (LIKA) (J.R.M.d.O.), and Neuropsychiatry Department (J.R.M.d.O.), Universidade Federal de Pernambuco, Recife, Brazil.

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http://dx.doi.org/10.1212/NXG.0000000000000134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299632PMC
April 2017

BRAF V600E Mutation Is not Always Present as Expected! A Case Report of Lung and Thyroid Carcinomas.

J Thorac Oncol 2017 05 17;12(5):897-899. Epub 2017 Jan 17.

Department of Pathology, Rouen University Hospital, Rouen Cedex, France.

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http://dx.doi.org/10.1016/j.jtho.2017.01.008DOI Listing
May 2017

Pyridoxine-dependent epilepsy: report on three families with neuropathology.

Metab Brain Dis 2016 12 20;31(6):1435-1443. Epub 2016 Jul 20.

Normandie Univ, UNIROUEN, INSERM, CHU Rouen, IRIB, Laboratoire NeoVasc ERI28, Rouen, 76000, France.

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http://dx.doi.org/10.1007/s11011-016-9869-zDOI Listing
December 2016

Endoplasmic reticulum stress, unfolded protein response and development of colon adenocarcinoma.

Virchows Arch 2016 Aug 25;469(2):145-54. Epub 2016 May 25.

Department of Pathology, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1007/s00428-016-1961-6DOI Listing
August 2016

[Glomus tumor of kidney: Unusual location of a rare mesenchymal tumor].

Ann Pathol 2015 Oct 14;35(5):440-4. Epub 2015 Sep 14.

Service d'anatomie et cytologie pathologiques, CHU de Rouen, 1, rue de Germont, 76000 Rouen, France.

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http://dx.doi.org/10.1016/j.annpat.2015.05.021DOI Listing
October 2015

[Malignant meningioma with adenocarcinoma-like metaplasia: a rare entity to be not misdiagnosed].

Ann Pathol 2014 Jun 17;34(3):223-7. Epub 2014 May 17.

Laboratoire d'anatomie et de cytologie pathologiques, CHU de Rouen, pavillon Jacques-Delarue, 1, rue de Germont, 76031 Rouen cedex, France.

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http://dx.doi.org/10.1016/j.annpat.2014.03.004DOI Listing
June 2014