Publications by authors named "Dominique Vidaud"

73Publications

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Am J Med Genet A 2017 Jun 19;173(6):1521-1530. Epub 2017 Apr 19.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38212DOI Listing
June 2017

Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.

Genes Chromosomes Cancer 2017 05 7;56(5):421-426. Epub 2017 Mar 7.

Institute of Cancer and Genetics, Cardiff University, UK.

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http://dx.doi.org/10.1002/gcc.22446DOI Listing
May 2017

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.

Orphanet J Rare Dis 2016 07 22;11(1):101. Epub 2016 Jul 22.

Service de Génétique et Biologie Moléculaires, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Bâtiment Jean Dausset, 3ème étage, 27 rue du Faubourg Saint Jacques, Paris, France.

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http://dx.doi.org/10.1186/s13023-016-0479-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957908PMC
July 2016

Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View.

EBioMedicine 2016 05 30;7:21-2. Epub 2016 Apr 30.

Department of Molecular Genetics and Biology, Cochin Hospital, Hôpitaux Universitaires Paris Centre, AP-HP, and EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté de Pharmacie, Paris, France.

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http://dx.doi.org/10.1016/j.ebiom.2016.04.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909605PMC
May 2016

RAS MAPK inhibitors deregulation in leukemia.

Oncoscience 2015 4;2(12):930-1. Epub 2015 Dec 4.

Laboratory of Hematology, Trousseau Hospital, AP-HP, Paris, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741395PMC
http://dx.doi.org/10.18632/oncoscience.274DOI Listing
February 2016

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

J Clin Res Pediatr Endocrinol 2016 Mar 18;8(1):96-100. Epub 2015 Dec 18.

Hacettepe University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey, E-mail:

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http://dx.doi.org/10.4274/jcrpe.2070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805056PMC
March 2016

[Interest of Droplet digital PCR in non-invasive prenatal testing].

Ann Biol Clin (Paris) 2015 Nov;73 Suppl 1:22-3

Service de biochimie et génétique moléculaire, HUPC Hôpital Cochin, Paris, France, Inserm U1016, Institut Cochin, Paris, France.

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http://dx.doi.org/10.1684/abc.2015.1084DOI Listing
November 2015

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

J Hum Genet 2015 Apr 29;60(4):221-4. Epub 2015 Jan 29.

1] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France [2] Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://www.nature.com/articles/jhg20156
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http://dx.doi.org/10.1038/jhg.2015.6DOI Listing
April 2015

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

Eur J Med Genet 2014 Nov-Dec;57(11-12):639-42. Epub 2014 Sep 16.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux Cedex, France; Université Bordeaux, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM), EA4576, 33076 Bordeaux Cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2014.09.001DOI Listing
July 2015

[PRC2 alterations in NF1-associated malignant peripheral nerve sheath tumors: schwann cells with no complex].

Med Sci (Paris) 2014 Aug-Sep;30(8-9):733-5. Epub 2014 Sep 1.

Service de biochimie et de génétique moléculaire, hôpital Cochin, AP-HP, Paris, France - Inserm EA7331, université Paris Descartes, Sorbonne Paris Cité, faculté des sciences pharmaceutiques et biologiques, 4, avenue de l'Observatoire, 75005 Paris, France.

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http://dx.doi.org/10.1051/medsci/20143008006DOI Listing
November 2014

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Eur J Hum Genet 2015 May 30;23(5):596-601. Epub 2014 Jul 30.

1] Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France [2] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402624PMC
May 2015

The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.

Clin Cancer Res 2014 Jan 11;20(2):358-71. Epub 2013 Nov 11.

Authors' Affiliations: UMR_S745 INSERM, Université Paris Descartes Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques; Department of Plastic and Reconstructive Surgery, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris (AP-HP), PRES Sorbonne Paris Cité; Service d'Anatomie et Cytologie Pathologiques, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Cochin, Université Paris Descartes; Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP); UMR8194 CNRS, PRES Sorbonne Paris Cité, Paris Descartes; Department of Orthopedic Surgery, Cochin Hospital; Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Cochin, Laboratory of Biochemistry; Tumour bank, Cochin Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University; INSERM, U1016, Institut Cochin, and CNRS, UMR8104, Paris; Département de pathologie Assistance Publique-Hôpitaux de Paris (AP-HP) and Université Paris Est Créteil (UPEC); Platform of Biological Ressources; Department of Plastic and Reconstructive Surgery, Assistance Publique-Hôpitaux de Paris (AP-HP) and Université Paris Est Créteil (UPEC), Hôpital Henri-Mondor; Department of Dermatology, Hôpital Henri-Mondor, Assistance Publique-Hôpitaux de Paris (AP-HP) and EA 4393 LIC, UPEC, Créteil, France; Laboratoire d'Oncogénétique, Institut Curie, Hôpital René Huguenin; FNCLCC, Saint-Cloud; and Genetics Division, Department of Medicine, Brigham and Women's Hospital, and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1158/1078-0432.CCR-13-0780DOI Listing
January 2014

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Hum Mutat 2013 Nov 26;34(11):1510-8. Epub 2013 Aug 26.

UMR745 INSERM, PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France; IRD, UMR216, Mère et enfant face aux infections tropicales, Paris, France; PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1002/humu.22392DOI Listing
November 2013

Neurofibromatosis type 1: from genotype to phenotype.

J Med Genet 2012 Aug;49(8):483-9

UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, 4 avenue de l'Observatoire, Paris 75006, France.

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http://dx.doi.org/10.1136/jmedgenet-2012-100978DOI Listing
August 2012

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

Am J Med Genet A 2012 Sep 27;158A(9):2290-1. Epub 2012 Jul 27.

Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin AP-HP, Paris, UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35496DOI Listing
September 2012

Extrahepatic portal venous system thrombosis in recurrent acute and chronic alcoholic pancreatitis is caused by local inflammation and not thrombophilia.

Am J Gastroenterol 2012 Oct 24;107(10):1579-85. Epub 2012 Jul 24.

Pôle des Maladies de l'Appareil Digestif, Service de Gastroentérologie-Pancréatologie, Hôpital Beaujon, AP-HP, Clichy, Inserm U773-CRB3, Université Paris-Diderot, Clichy, France.

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http://www.nature.com/articles/ajg2012231
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http://dx.doi.org/10.1038/ajg.2012.231DOI Listing
October 2012

Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

J Natl Cancer Inst 2011 Nov 27;103(22):1713-22. Epub 2011 Oct 27.

UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, 4 avenue de l'Observatoire, Paris, France.

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http://dx.doi.org/10.1093/jnci/djr416DOI Listing
November 2011

SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog.

Hum Pathol 2011 Mar 28;42(3):434-43. Epub 2010 Dec 28.

AP-HP, Groupe hospitalier Henri Mondor-Albert Chenevier, Department of Pathology, Université Paris 12, Faculté de Médecine, F-94010 Créteil, France.

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http://dx.doi.org/10.1016/j.humpath.2010.02.020DOI Listing
March 2011

Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors.

J Neurooncol 2011 May 5;102(3):341-6. Epub 2010 Aug 5.

UMR745 INSERM, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, 75006 Paris, France.

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http://dx.doi.org/10.1007/s11060-010-0328-0DOI Listing
May 2011

Increase in type II collagen turnover after iron depletion in patients with hereditary haemochromatosis.

Rheumatology (Oxford) 2010 Apr 22;49(4):760-6. Epub 2010 Jan 22.

Université Paris 7, UFR Médicale, Assistance Publique Hôpitaux de Paris, Hôpital Lariboisière, Fédération de Rhumatologie, Paris, France.

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http://dx.doi.org/10.1093/rheumatology/kep429DOI Listing
April 2010

Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

J Mol Diagn 2009 Nov 18;11(6):524-9. Epub 2009 Sep 18.

UMR745 INSERM, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, 4 avenue de l'Observatoire, 75006 Paris, France.

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http://dx.doi.org/10.2353/jmoldx.2009.090064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765750PMC
November 2009

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Hum Mol Genet 2009 Aug 5;18(15):2768-78. Epub 2009 May 5.

Faculté des Sciences Pharmaceutiques et Biologiques, UMR745 INSERM, Université Paris Descartes, Paris 75006, France.

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http://dx.doi.org/10.1093/hmg/ddp212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722187PMC
August 2009

Neurofibromatosis type 1 with undescribed osseous abnormalities: new features?

Clin Dysmorphol 2009 Apr;18(2):92-4

Service de Génétique Médicale, Université de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1097/MCD.0b013e3283279a28DOI Listing
April 2009

Significant gene expression differences in histologically "Normal" liver biopsies: Implications for control tissue.

Hepatology 2008 Sep;48(3):953-62

Service d'Hépatologie & Institut National de la Santé et de la Recherche Médicale (INSERM) U733, CRB3, Université Paris Diderot, Assistance Publique-Hôpitaux de Paris, Hôpital Beaujon, Clichy, France.

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http://dx.doi.org/10.1002/hep.22411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2816363PMC
September 2008

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

Eur J Hum Genet 2008 Dec 23;16(12):1459-66. Epub 2008 Jul 23.

UMR745 INSERM, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2008.134DOI Listing
December 2008

Neurofibromatosis 1: analysis of the demand for prenatal diagnosis in a French cohort of 361 patients.

Am J Med Genet A 2008 Jan;146A(2):159-65

Department of Dermatology, AP-HP Henri Mondor, Université Paris 12, Créteil, France.

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http://doi.wiley.com/10.1002/ajmg.a.32066
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http://dx.doi.org/10.1002/ajmg.a.32066DOI Listing
January 2008

Liver iron, HFE gene mutations, and hepatocellular carcinoma occurrence in patients with cirrhosis.

Gastroenterology 2008 Jan 26;134(1):102-10. Epub 2007 Oct 26.

Service d'Hépato-gastroentérologie, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Bondy, France.

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http://dx.doi.org/10.1053/j.gastro.2007.10.038DOI Listing
January 2008

Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.

Cancer Res 2007 Apr;67(8):3963-9

Laboratoire de Génétique Moléculaire-Institut National de la Sante et de la Recherche Medicale U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris V.

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http://cancerres.aacrjournals.org/cgi/doi/10.1158/0008-5472.
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http://dx.doi.org/10.1158/0008-5472.CAN-06-2004DOI Listing
April 2007

Microarray-based identification of tenascin C and tenascin XB, genes possibly involved in tumorigenesis associated with neurofibromatosis type 1.

Clin Cancer Res 2007 Jan 3;13(2 Pt 1):398-407. Epub 2007 Jan 3.

Laboratoire de Génétique Moléculaire-Institut National de la Sante et de la Recherche Medicale U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris V, 4 avenue de l'Observatoire, Paris, France.

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http://clincancerres.aacrjournals.org/lookup/doi/10.1158/107
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http://dx.doi.org/10.1158/1078-0432.CCR-06-0182DOI Listing
January 2007

Liver gene expression signature of mild fibrosis in patients with chronic hepatitis C.

Gastroenterology 2005 Dec;129(6):2064-75

Service d'Hépatologie and INSERM CRB3, AP-HP Hôpital Beaujon, University of Paris VII, Paris, France.

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http://dx.doi.org/10.1053/j.gastro.2005.09.010DOI Listing
December 2005

[Mutation mechanisms and their consequences].

Med Sci (Paris) 2005 Nov;21(11):969-80

Laboratoire de Génétique Moléculaire EA 3618, Université René Descartes Paris 5, Faculté des Sciences Pharmaceutiques et Biologiques, 4, avenue de l'Observatoire, 75006 Paris, France.

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http://dx.doi.org/10.1051/medsci/20052111969DOI Listing
November 2005

FAS promoter polymorphisms correlate with activity grade in hepatitis C patients.

Eur J Gastroenterol Hepatol 2005 Oct;17(10):1081-8

Laboratoire d'Immunologie Cellulaire et Tissulaire bService de Gastroentérologie, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1097/00042737-200510000-00012DOI Listing
October 2005

Molecular profiling of early stage liver fibrosis in patients with chronic hepatitis C virus infection.

Virology 2005 Feb;332(1):130-44

Laboratoire de Génétique Moléculaire-UPRES EA 3618, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris V, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S004268220400769
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http://dx.doi.org/10.1016/j.virol.2004.11.009DOI Listing
February 2005

Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications.

Proteins 2005 Jan;58(1):7-13

INSERM U428, Faculté des Sciences Pharmaceutiques et Biologiques, PARIS, France.

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http://dx.doi.org/10.1002/prot.20296DOI Listing
January 2005

Human chorionic gonadotrophin beta expression in malignant Barrett's oesophagus.

Virchows Arch 2004 Sep 10;445(3):279-84. Epub 2004 Aug 10.

Service d'Anatomie Pathologique, Hôpital Beaujon, 92118 Clichy cedex, France.

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http://dx.doi.org/10.1007/s00428-004-1078-1DOI Listing
September 2004

Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCR.

Mol Cancer 2004 Jul 15;3:20. Epub 2004 Jul 15.

Laboratoire de Génétique Moléculaire-UPRES EA 3618, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris V, Paris, France.

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http://dx.doi.org/10.1186/1476-4598-3-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC493279PMC
July 2004

Quantitative RT-PCR reveals a ubiquitous but preferentially neural expression of the KIS gene in rat and human.

Brain Res Mol Brain Res 2003 May;114(1):55-64

Laboratoire de Génétique Moléculaire-UPRES EA 3618, Faculté des Sciences Pharmaceutiques et Biologiques, Université René Descartes-Paris V, 75006 Paris, France.

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http://dx.doi.org/10.1016/s0169-328x(03)00132-3DOI Listing
May 2003

CGA gene (coding for the alpha subunit of glycoprotein hormones) overexpression in ER alpha-positive prostate tumors.

Eur Urol 2002 Mar;41(3):335-41

Laboratoire de Génétique Moléculaire-UPRES JE 2195, Faculté des Sciences Pharmaceutiques et Biologiques de Paris, Université René Descartes-Paris V, 4 Avenue de l'Observatoire, F-75006 Paris, France.

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http://dx.doi.org/10.1016/s0302-2838(02)00020-9DOI Listing
March 2002