Publications by authors named "Eric Pasmant"

76Publications

COVID-19: Discovery, diagnostics and drug development.

J Hepatol 2020 Oct 8. Epub 2020 Oct 8.

Center for AIDS Research, Laboratory of Biochemical Pharmacology, Department of Pediatrics, Emory University School of Medicine, 1760 Haygood Drive, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1016/j.jhep.2020.09.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7543767PMC
October 2020

Should we genotype the sperm of fathers from patients with 'de novo' mutations?

Eur J Endocrinol 2020 Jan;182(1):C1-C3

Service de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1530/EJE-19-0759DOI Listing
January 2020

"MPNST Epigenetics"-Letter.

Mol Cancer Res 2019 10;17(10):2139

Institut Curie, Paris Sciences et Lettres Research University, Paris, France.

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http://dx.doi.org/10.1158/1541-7786.MCR-19-0680DOI Listing
October 2019

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

Hum Mutat 2019 06 28;40(6):661-674. Epub 2019 Mar 28.

Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France.

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http://dx.doi.org/10.1002/humu.23746DOI Listing
June 2019

[SUMMIT: a basket study scores points].

Med Sci (Paris) 2018 Nov 10;34(11):910-913. Epub 2018 Dec 10.

Service de génétique et biologie moléculaires, hôpital Cochin, assistance publique-hôpitaux de Paris, Paris, France - Université Paris Descartes-Sorbonne, Paris cité, faculté de pharmacie de Paris, Paris, France.

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http://dx.doi.org/10.1051/medsci/2018232DOI Listing
November 2018

Humanized Mouse Model to Study Type 1 Diabetes.

Diabetes 2018 09 2;67(9):1816-1829. Epub 2018 Jul 2.

INSERM U1016, Institut Cochin, Paris, France

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http://dx.doi.org/10.2337/db18-0202DOI Listing
September 2018

Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?

J Mol Diagn 2017 09;19(5):776-787

Institut Cochin, INSERMU1016, Centre National de la Recherche Scientifique UMR_8104, Paris, France; Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Reference Center for Rare Adrenal Cancer Network COMETE, Cochin Hospital, Assistance Publique-Hôpitaux de Paris, Paris. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173026
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http://dx.doi.org/10.1016/j.jmoldx.2017.06.005DOI Listing
September 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

Primary giant cell tumor of the common bile duct: No mutation H3F3A found.

Pathol Int 2017 04 20;67(4):225-227. Epub 2017 Jan 20.

Department of Pathology, Beaujon Hospital, Clichy, 92110, France.

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http://dx.doi.org/10.1111/pin.12510DOI Listing
April 2017

Synovial Sarcomas Do Not Show H3K27 Trimethylation Loss Using Immunohistochemistry.

Am J Surg Pathol 2017 02;41(2):283-285

*EA7331, Faculty of Pharmacy of Paris Paris Descartes University Departments of †Molecular Genetics ‡Pathology, Cochin Hospital, HUPC AP-HP, Paris, France.

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http://dx.doi.org/10.1097/PAS.0000000000000791DOI Listing
February 2017

Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing.

Dig Liver Dis 2017 Jan 20;49(1):98-102. Epub 2016 Oct 20.

Department of Hepato-Gastroenterology and Digestive Oncology, Robert-Debré University Hospital, Reims, France. Electronic address:

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http://dx.doi.org/10.1016/j.dld.2016.10.007DOI Listing
January 2017

RAS-MAPK pathway epigenetic activation in cancer: miRNAs in action.

Oncotarget 2016 Jun;7(25):38892-38907

Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.18632/oncotarget.6476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122439PMC
June 2016

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

Expression of ANRIL-Polycomb Complexes-CDKN2A/B/ARF Genes in Breast Tumors: Identification of a Two-Gene (EZH2/CBX7) Signature with Independent Prognostic Value.

Mol Cancer Res 2016 07 21;14(7):623-33. Epub 2016 Apr 21.

Unit of Pharmacogenomics, Department of Genetics, Curie Institute, Paris, France. Faculty of Pharmaceutical and Biological Sciences, Paris Descartes University, Paris, France.

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http://mcr.aacrjournals.org/cgi/doi/10.1158/1541-7786.MCR-15
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http://dx.doi.org/10.1158/1541-7786.MCR-15-0418DOI Listing
July 2016

Identification by FFPE RNA-Seq of a new recurrent inversion leading to RBM10-TFE3 fusion in renal cell carcinoma with subtle TFE3 break-apart FISH pattern.

Genes Chromosomes Cancer 2016 06 7;55(6):541-8. Epub 2016 Apr 7.

Department of Molecular Genetics, AP-HP, Hôpitaux universitaires Paris-Centre, Hôpital Cochin, Paris, France.

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http://dx.doi.org/10.1002/gcc.22356DOI Listing
June 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

High specificity and sensitivity of NRAS Q61R immunohistochemistry (IHC) in melanomas.

J Am Acad Dermatol 2016 Mar;74(3):572-3

Department of Biochemistry and Molecular Biology, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpitaux Universitaires Paris-Centre, Hôpital Cochin, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; EA7331, Faculté de Pharmacie, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.jaad.2015.11.011DOI Listing
March 2016

Chaperoning 5S RNA assembly.

Genes Dev 2015 Jul;29(13):1432-46

Laboratoire de Cristallographie et RMN Biologiques, UMR, CNRS 8015, Université Paris Descartes, Faculté de Pharmacie, Sorbonne Paris Cité, 75006 Paris, France;

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http://dx.doi.org/10.1101/gad.260349.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511217PMC
July 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

[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

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.

Nature 2014 Oct 13;514(7521):247-51. Epub 2014 Aug 13.

1] Genetics Division, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA [2] Harvard Medical School, Boston, Massachusetts 02115, USA [3] Ludwig Center at Dana-Farber/Harvard Cancer Center, Boston, Massachusetts 02115, USA.

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http://www.nature.com/articles/nature13561
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http://dx.doi.org/10.1038/nature13561DOI Listing
October 2014

Immunohistochemistry versus next-generation sequencing for the routine detection of BRAF V600E mutation in melanomas.

Hum Pathol 2014 Sep 18;45(9):1983-4. Epub 2014 Jun 18.

Pathology Department, AP-HP, Hôpital Cochin, Paris, France; Université Paris Descartes Sorbonne Paris Cité, Paris, France; INSERM U1016, CNRS UMR 8104, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00468177140024
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http://dx.doi.org/10.1016/j.humpath.2014.05.017DOI Listing
September 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

Mutations in SETD2 cause a novel overgrowth condition.

J Med Genet 2014 Aug 22;51(8):512-7. Epub 2014 May 22.

INSERM UMR_1163, Département de génétique, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102402DOI Listing
August 2014

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

Review and update of SPRED1 mutations causing Legius syndrome.

Hum Mutat 2012 Nov 1;33(11):1538-46. Epub 2012 Aug 1.

Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.22152DOI Listing
November 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

A severe neonatal presentation of factor II deficiency.

Eur J Haematol 2011 Nov 11;87(5):464-6. Epub 2011 Aug 11.

Département d'Hématologie et immunologie, Hôpital Beaujon, AP-HP, 100 boulevard du Général Leclerc, Clichy, France.

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http://dx.doi.org/10.1111/j.1600-0609.2011.01670.xDOI Listing
November 2011

ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS.

FASEB J 2011 Feb 18;25(2):444-8. Epub 2010 Oct 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/10.1096/fj.10-172452DOI Listing
February 2011

Unraveling the genetic predisposition of ribavirin-induced anaemia.

J Hepatol 2010 Nov 21;53(5):971-3. Epub 2010 Jul 21.

Service d'Hépatologie, Hôpital Beaujon, INSERM, U773, CRB3, Clichy, France.

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http://dx.doi.org/10.1016/j.jhep.2010.06.007DOI Listing
November 2010

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

VKORC1 and CYP2C9 genetic polymorphisms in hepatic or portal vein thrombosis.

Thromb Res 2010 Aug;126(2):e134-6

Department of Haematology, Beaujon hospital, AP-HP, Clichy, France.

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http://dx.doi.org/10.1016/j.thromres.2010.03.015DOI Listing
August 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

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

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