Celine Dupont

Celine Dupont

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Celine Dupont

Celine Dupont

Publications by authors named "Celine Dupont"

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Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Prenat Diagn 2019 Sep 5;39(10):871-882. Epub 2019 Jul 5.

Fédération de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France.

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http://dx.doi.org/10.1002/pd.5498DOI Listing
September 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Theoretical investigation of the platinum substrate influence on BaTiO thin film polarisation.

Phys Chem Chem Phys 2019 Feb;21(8):4367-4374

Laboratoire Interdisciplinaire Carnot de Bourgogne (ICB), UMR 6303 CNRS, Université de Bourgogne Franche Comté, BP 47870, 21078 Dijon Cedex, France.

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http://dx.doi.org/10.1039/c8cp07022aDOI Listing
February 2019

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Am J Med Genet A 2018 11 17;176(11):2325-2330. Epub 2018 Oct 17.

Unité fonctionnelle de fœtopathologie, Département de génétique, CHU Robert Debré, Assistance Publique - Hôpitaux de Paris, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.40505
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http://dx.doi.org/10.1002/ajmg.a.40505DOI Listing
November 2018

The nature of the Pt(111)/α-FeO(0001) interfaces revealed by DFT calculations.

J Chem Phys 2018 May;148(20):204701

Laboratoire Interdisciplinaire Carnot de Bourgogne (ICB), UMR 6303 CNRS, Université Bourgogne Franche-Comté, BP 47870, 21078 Dijon Cedex, France.

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http://dx.doi.org/10.1063/1.5033366DOI Listing
May 2018

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Mol Autism 2015 25;6:19. Epub 2015 Mar 25.

INSERM, UMR 1130, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; CNRS, UMR 8246, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; Sorbonne Universités, UPMC Univ Paris 6, Institut de Biologie Paris-Seine, 9 quai Saint Bernard, 75005 Paris, France.

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http://www.molecularautism.com/content/6/1/19
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http://dx.doi.org/10.1186/s13229-015-0015-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384291PMC
April 2015

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Am J Med Genet A 2014 Oct 26;164A(10):2504-9. Epub 2014 Jun 26.

Department of Developmental Biology, AP-HP, Robert Debré University Hospital, Paris and Diderot University, Paris, France; Clinical Genetics Unit, Rennes Sud University Hospital, Rennes, France.

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http://dx.doi.org/10.1002/ajmg.a.36658DOI Listing
October 2014

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

Mol Cytogenet 2014 30;7(1):59. Epub 2014 Sep 30.

Génomique, Epigénétique et Physiopathologie de la Reproduction, U1016 INSERM-UMR 8104 CNRS (Institut Cochin), Université Paris Descartes, Faculté de Médecine, Paris, France ; Laboratoire de Cytogénétique- APHP, Hôpitaux Universitaires Paris Centre, Paris, France.

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http://dx.doi.org/10.1186/s13039-014-0059-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197286PMC
October 2014

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

Am J Med Genet A 2014 Sep 28;164A(9):2335-7. Epub 2014 May 28.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR 1141 "PROTECT", Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36619DOI Listing
September 2014

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Eur J Med Genet 2014 Jan 12;57(1):5-14. Epub 2013 Nov 12.

Department of Medical Genetics, APHP -- Robert Debré University Hospital, and Paris VII Denis Diderot University, Paris, France; INSERM UMR676 "PROTECT", Robert Debré Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.008DOI Listing
January 2014

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2663-5. Epub 2013 Aug 5.

AP-HP, Department of Genetic-Cytogenetic Unit, Robert Debre Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36081DOI Listing
October 2013

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

Eur J Med Genet 2013 Jun 21;56(6):297-300. Epub 2013 Mar 21.

Department of Developmental Biology, Robert Debré Hospital, AP-HP, 48 Boulevard Sérurier, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.03.003DOI Listing
June 2013

What singles out the G[8-5]C intrastrand DNA cross-link? Mechanistic and structural insights from quantum mechanics/molecular mechanics simulations.

Biochemistry 2013 Jan 2;52(2):425-31. Epub 2013 Jan 2.

Université de Lyon, Institut de Chimie de Lyon, CNRS, Ecole normale supérieure de Lyon, 46 allée d'Italie, 69364 Lyon Cedex 07, France.

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http://dx.doi.org/10.1021/bi301198hDOI Listing
January 2013

Promoter Effect of Early Stage Grown Surface Oxides: A Near-Ambient-Pressure XPS Study of CO Oxidation on PtSn Bimetallics.

J Phys Chem Lett 2012 Dec 3;3(24):3707-14. Epub 2012 Dec 3.

∥Advanced Light Source, Lawrence Berkeley National Laboratory, Berkeley, California 94720, United States.

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http://dx.doi.org/10.1021/jz301802gDOI Listing
December 2012

Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

Eur J Med Genet 2012 Aug-Sep;55(8-9):498-501. Epub 2012 May 5.

Department of Developmental Biology, AP-HP, Robert Debré Hospital, 48, Boulevard Sérurier, 75019 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.04.006DOI Listing
November 2012

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.

Am J Med Genet A 2012 Sep 20;158A(9):2277-82. Epub 2012 Jul 20.

Department of Genetics, APHP Robert Debré University Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35494DOI Listing
September 2012

Superior performance of range-separated hybrid functionals for describing σ* ← σ UV-vis signatures of three-electron two-center anions.

J Phys Chem A 2012 Mar 14;116(12):3237-46. Epub 2012 Mar 14.

Université de Lyon, Institut de Chimie de Lyon, CNRS, Ecole normale supérieure de Lyon, 46 allée d'Italie, 69364 Lyon Cedex 07, France.

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http://dx.doi.org/10.1021/jp211875rDOI Listing
March 2012

Improved DFT description of intrastrand cross-link formation by inclusion of London dispersion corrections.

J Phys Chem B 2011 Dec 22;115(50):15138-44. Epub 2011 Nov 22.

Université de Lyon, Institut de Chimie de Lyon, CNRS, Ecole normale supérieure de Lyon, Lyon, France.

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http://dx.doi.org/10.1021/jp209074qDOI Listing
December 2011

Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.

Eur J Med Genet 2010 May-Jun;53(3):127-32. Epub 2010 Mar 17.

AP-HP, Unité de Cytogénétique, Groupe Hospitalier Cochin - Saint Vincent de Paul and Université Paris-Descartes, Faculté de Médecine, 75014 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.03.003DOI Listing
October 2010

Restructuring of the Pt3Sn(111) surfaces induced by atomic and molecular oxygen from first principles.

J Chem Phys 2009 Mar;130(12):124716

Université de Lyon, Institut de Chimie de Lyon, France.

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http://dx.doi.org/10.1063/1.3096986DOI Listing
March 2009

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Am J Med Genet A 2008 Nov;146A(22):2971-4

Service d'Histologie-Embryologie et Cytogenetique, Biologie de la Reproduction, Hopital Jean Verdier, AP-HP, Bondy, France.

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http://dx.doi.org/10.1002/ajmg.a.32547DOI Listing
November 2008

First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.

Am J Med Genet A 2007 Jun;143A(11):1236-43

AP-HP, Hôpital Cochin, Service Histologie Embryologie Cytogénétique, Université Paris-Descartes, Faculté de Médecine, Unité INSERM U709, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.31744DOI Listing
June 2007

Theoretical evidence of PtSn alloy efficiency for CO oxidation.

J Am Chem Soc 2006 Jul;128(28):9129-36

Laboratoire de Chimie, UMR CNRS 5182, Ecole Normale Supérieure de Lyon, 46 Allée d'Italie, F-69364 Lyon Cedex 07, France.

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http://dx.doi.org/10.1021/ja061303hDOI Listing
July 2006

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.

Eur J Hum Genet 2003 Jun;11(6):452-6

Service d'Histologie-Embryologie Cytogénétique Biologie de la Reproduction, Hôpital Jean Verdier (AP-HP), Avenue du 14 Juillet-93143, Bondy Cedex, France.

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http://www.nature.com/articles/5200984
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http://dx.doi.org/10.1038/sj.ejhg.5200984DOI Listing
June 2003