Marie Vincent

Marie Vincent

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Marie Vincent

Marie Vincent

Publications by authors named "Marie Vincent"

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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Eur J Med Genet 2019 Jun 22;62(6):103530. Epub 2018 Aug 22.

Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.08.011DOI Listing
June 2019

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.

Am J Respir Crit Care Med 2019 Jun 12. Epub 2019 Jun 12.

Baylor College of Medicine, Department of Molecular & Human Genetics, Houston , Texas, United States ;

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http://dx.doi.org/10.1164/rccm.201903-0495TRDOI Listing
June 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 Feb 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

CHU Nantes, Service de Génétique Médicale, Nantes, France; INSERM, UMR 1238, Bone Sarcoma and Remodeling of Calcified Tissue, Nantes, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.11.020DOI Listing
November 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography.

J Ultrasound Med 2018 02 16;37(2):531-534. Epub 2017 Aug 16.

Department of Gynecology and Obstetrics.

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http://dx.doi.org/10.1002/jum.14342DOI Listing
February 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

[Should the knowledge be imperative? The key challenge of high throughput genetics].

Med Sci (Paris) 2017 Nov 4;33(11):1001-1002. Epub 2017 Dec 4.

Service de génétique médicale, Unité de génétique clinique, CHU Hôtel Dieu, 1, place Alexis Ricordeau, 44093 Nantes, France.

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http://dx.doi.org/10.1051/medsci/20173311019DOI Listing
November 2017

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series.

J Med Case Rep 2017 Mar 24;11(1):78. Epub 2017 Mar 24.

Service de Génétique Médicale, Hôpital Hôtel-Dieu, CHU de Nantes, 1 place Alexis Ricordeau, 44093, Nantes, France.

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http://dx.doi.org/10.1186/s13256-017-1231-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364588PMC
March 2017

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

Plast Reconstr Surg 2016 08;138(2):374e-6e

Department of Plastic and Craniofacial Pediatric Surgery, Department of Plastic and Reconstructive Surgery, and Department of Burns Department of Medical Genetics CHU Lapeyronie University of Montpellier Montpellier, France Department of Medical Genetics CHU Nantes University of Nantes Nantes, France Department of Plastic, Reconstructive and Aesthetic Surgery Rangueil Hospital Paul Sabatier University Toulouse, France Department of Plastic and Craniofacial Pediatric Surgery, Department of Plastic and Reconstructive Surgery, and Department of Burns CHU Lapeyronie, and Laboratory of Anatomy University of Montpellier Montpellier, France.

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http://dx.doi.org/10.1097/PRS.0000000000002381DOI Listing
August 2016

Development of multifunctional lipid nanocapsules for the co-delivery of paclitaxel and CpG-ODN in the treatment of glioblastoma.

Int J Pharm 2015 Nov 30;495(2):972-80. Epub 2015 Sep 30.

LUNAM Université-Micro et Nanomédecines Biomimétiques, F-49933 Angers, France; INSERM U1066, IBS-CHU, 4 rue Larrey, F-49933 Angers Cedex 9, France. Electronic address:

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http://dx.doi.org/10.1016/j.ijpharm.2015.09.062DOI Listing
November 2015

Patients with isolated oligo/hypodontia caused by RUNX2 duplication.

Am J Med Genet A 2015 Jun 21;167(6):1386-90. Epub 2015 Apr 21.

CHU Nantes, Service de Génétique Médicale, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.37052DOI Listing
June 2015

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Genet Med 2014 Sep 6;16(9):720-4. Epub 2014 Mar 6.

1] Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU de Hautepierre, Strasbourg, France [2] Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France [3] Current affiliation: Service de Génétique, CHU la Réunion, Hôpital Félix Guyon, Saint-Denis, France.

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http://dx.doi.org/10.1038/gim.2014.12DOI Listing
September 2014

Treg depletion followed by intracerebral CpG-ODN injection induce brain tumor rejection.

J Neuroimmunol 2014 Feb 12;267(1-2):35-42. Epub 2013 Dec 12.

Université d'Angers, Angers, France; INSERM, UMR892, Angers, France; CNRS, UMR 6299, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2013.12.005DOI Listing
February 2014

Antitumor activity of an immunocytokine composed of an anti-GD2 antibody and the IL-15 superagonist RLI.

Oncoimmunology 2013 Nov 9;2(11):e26441. Epub 2013 Oct 9.

UMR892-INSERM 6299-CNRS; Université de Nantes; Équipe Cytokines et Récepteurs en Immuno-Cancérologie; Nantes, France.

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http://dx.doi.org/10.4161/onci.26441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857326PMC
November 2013

Tumor targeting of the IL-15 superagonist RLI by an anti-GD2 antibody strongly enhances its antitumor potency.

Int J Cancer 2013 Aug 25;133(3):757-65. Epub 2013 Feb 25.

Centre de Recherche en Cancérologie Nantes-Angers, Inserm, U892, CNRS, U6299, équipe Cytokines et Récepteurs en Immuno-Hémato-Cancérologie, Université de Nantes, Nantes, France.

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http://dx.doi.org/10.1002/ijc.28059DOI Listing
August 2013

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Eur J Hum Genet 2012 May 18;20(5):580-3. Epub 2012 Jan 18.

Département de Pédiatrie spécialisée, Unité de Néphrologie et Endocrinologie pédiatrique, CHRU Montpellier, Faculté de Médecine de Montpellier-Nîmes, Université Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2011.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330221PMC
May 2012

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Eur J Hum Genet 2009 Jan 1;17(1):133-6. Epub 2008 Oct 1.

Département de Pédiatrie, Hoôpital Necker Enfants Malades, AP-HP, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2008.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985950PMC
January 2009

Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.

J Pediatr Hematol Oncol 2002 Jan;24(1):69-71

Department of Pediatric Hematology and Oncology, Cliniques Universitaires St. Luc, Brussels, Belgium.

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http://dx.doi.org/10.1097/00043426-200201000-00018DOI Listing
January 2002