Publications by authors named "Jean-Michel Dupont"

36Publications

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

J Med Genet 2019 08 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

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

J Assist Reprod Genet 2019 May 8;36(5):973-978. Epub 2019 Mar 8.

Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Unité INSERM 933, 26 avenue du Dr Arnold Netter, 75012, Paris, France.

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http://dx.doi.org/10.1007/s10815-019-01430-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541678PMC
May 2019

Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.

J Assist Reprod Genet 2019 Jan 25;36(1):69-77. Epub 2018 Oct 25.

Génomique, Epigénétique et Physiopathologie de la Reproduction, U1016 INSERM-UMR 8104 CNRS, Institut Cochin, Université Paris Descartes, Paris, France.

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http://link.springer.com/10.1007/s10815-018-1342-y
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http://dx.doi.org/10.1007/s10815-018-1342-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338597PMC
January 2019

Paradoxical Improvement of Schizophrenic Symptoms by a Dopaminergic Agonist: An Example of Personalized Psychiatry in a Copy Number Variation-Carrying Patient.

Biol Psychiatry 2016 08 8;80(4):e21-e23. Epub 2015 Oct 8.

Service Hospitalo Universitaire, Center for Cognitive Remediation and Rehabilitation, Centre Hospitalier Sainte-Anne, Service Hospitalo-Universitaire, Faculté de Médecine Paris Descartes, Paris, France; Center for Psychiatry and Neuroscience, Laboratory for Pathophysiology of Psychiatric Diseases-Institut de Psychiatrie, University Paris Descartes, Sorbonne Paris Cité, Inserm UMR 894, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2015.09.017DOI Listing
August 2016

Unusual isochromosome 5p marker chromosome.

Am J Med Genet A 2015 Feb 25;167A(2):455-9. Epub 2014 Nov 25.

Service d'Histologie, Cytologie, Biologie Cellulaire et Cytogénétique, Hôpital de la Mère et de l'Enfant (HME), CHU (Centre Hospitalier Universitaire) Dupuytren, Limoges, France.

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http://dx.doi.org/10.1002/ajmg.a.36843DOI Listing
February 2015

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

Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.

Am J Clin Pathol 2014 Aug;142(2):248-53

From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France; Paris Descartes University, Faculty of Medicine, Paris, France;

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https://academic.oup.com/ajcp/article/142/2/248/1767056
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http://dx.doi.org/10.1309/AJCPBLMPRXKU1JUEDOI Listing
August 2014

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Am J Med Genet A 2014 Aug 8;164A(8):2025-8. Epub 2014 Apr 8.

Department of Molecular Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France; CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36547DOI Listing
August 2014

First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.

Am J Med Genet A 2012 Mar 2;158A(3):617-21. Epub 2012 Feb 2.

Groupe Hospitalier Cochin, Broca, Hôtel Dieu, APHP-Laboratoire de Cytogénétique, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.34416DOI Listing
March 2012

Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: an array-CGH study.

Am J Med Genet A 2011 Oct 9;155A(10):2597-600. Epub 2011 Sep 9.

Laboratoire de Cytogénétique, Groupe Hospitalier Cochin-Saint Vincent de Paul, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.34210DOI Listing
October 2011

Methylation of specific CpG sites in the P2 promoter of parathyroid hormone-related protein determines the invasive potential of breast cancer cell lines.

Epigenetics 2011 Aug 1;6(8):1035-46. Epub 2011 Aug 1.

Laboratory for Epigenetics, Centre National de Génotypage, CEA-Institut de Génomique; Evry, France.

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http://dx.doi.org/10.4161/epi.6.8.16077DOI Listing
August 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

Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men.

Eur J Hum Genet 2010 Jan;18(1):73-80

Biology of Reproduction-CECOS, Cochin-Saint Vincent de Paul Hospital, AP-HP, Department of Genetics and Development, Cochin Institute, University Paris-Descartes, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987171PMC
January 2010

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.

Am J Med Genet A 2009 Mar;149A(3):437-45

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

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http://genoma.ib.usp.br/sites/default/files/publicacoes/mole
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http://doi.wiley.com/10.1002/ajmg.a.32640
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http://dx.doi.org/10.1002/ajmg.a.32640DOI Listing
March 2009

Maternal serum screening in cases of mosaic and translocation Down syndrome.

Prenat Diagn 2008 Aug;28(8):699-703

Biochimie-Hormonologie, Hôpital Robert Debré, AP-HP, Paris.

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http://dx.doi.org/10.1002/pd.2051DOI Listing
August 2008

Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies.

Prenat Diagn 2008 Apr;28(4):313-8

Hopital Cochin-Saint Vincent de Paul, Unité de, Cytogénétique, France.

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http://dx.doi.org/10.1002/pd.1959DOI Listing
April 2008

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

Eur J Hum Genet 2008 Jul 20;16(7):865-8. Epub 2008 Feb 20.

Laboratoire de biochimie et génétique moléculaire, hôpital Cochin, APHP, Paris, France.

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http://www.nature.com/articles/ejhg200815
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http://dx.doi.org/10.1038/ejhg.2008.15DOI Listing
July 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

Pure familial 6q21q22.1 duplication in two generations.

Eur J Med Genet 2007 Jan-Feb;50(1):60-5. Epub 2006 Sep 28.

Service de Cytogénétique, Hôpital Cochin, APHP, 123 Bd du Port Royal, 75014 Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120600098
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http://dx.doi.org/10.1016/j.ejmg.2006.09.002DOI Listing
March 2007

De novo quantitative bisulfite sequencing using the pyrosequencing technology.

Anal Biochem 2004 Oct;333(1):119-27

Laboratoire d'Histologie Embryologie Cytogénétique, CHU Cochin Port Royal, AP/HP-Université Paris 5, 75014 Paris, France.

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http://dx.doi.org/10.1016/j.ab.2004.05.007DOI Listing
October 2004

Rapid prenatal diagnosis of Down syndrome using quantitative fluorescence in situ hybridization on interphase nuclei.

Prenat Diagn 2003 Feb;23(2):146-51

Cytogénétique Moléculaire et Oncologie, UMR147, CNRS-Institut Curie, 26 rue d'Ulm, 75248 Paris Cedex 05, France.

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http://doi.wiley.com/10.1002/pd.558
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http://dx.doi.org/10.1002/pd.558DOI Listing
February 2003

Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.

Am J Med Genet 2002 Sep;111(4):405-8

Histologie Embryologie Cytogénétique, CHU Cochin, AP-HP-Université Paris 5, France.

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http://dx.doi.org/10.1002/ajmg.10570DOI Listing
September 2002