Jacques Puechberty

Jacques Puechberty

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Jacques Puechberty

Jacques Puechberty

Publications by authors named "Jacques Puechberty"

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37Publications

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Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Mol Genet Genomic Med 2019 Nov 7;7(11):e00895. Epub 2019 Sep 7.

Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1002/mgg3.895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825868PMC
November 2019

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

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.

BMC Med Genomics 2019 08 2;12(1):116. Epub 2019 Aug 2.

Unité de Génétique Chromosomique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1186/s12920-019-0558-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679470PMC
August 2019

Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis.

Methods Mol Biol 2018 ;1769:353-361

Unit of Chromosomal Genetics, Department of Medical Genetics, Arnaud de Villeneuve Hospital, CHU Montpellier, Montpellier Cedex 5, France.

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http://dx.doi.org/10.1007/978-1-4939-7780-2_22DOI Listing
February 2019

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

Fertil Steril 2014 Dec 18;102(6):1785-96. Epub 2014 Oct 18.

Laboratory of Chromosomal Genetics, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier CHRU, Montpellier, France.

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http://dx.doi.org/10.1016/j.fertnstert.2014.09.006DOI Listing
December 2014

Congenital linear streaks on the face and neck and microphthalmia in an infant girl.

Acta Derm Venereol 2014 May;94(3):342-3

Department of Dermatology,, Skin and Allergy Hospital, Helsinki University Central Hospital, Meilahdentie 2, PO Box 160, FIN-00029 Helsinki, Finland.

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http://dx.doi.org/10.2340/00015555-1688DOI Listing
May 2014

[Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements].

Med Sci (Paris) 2014 Mar 31;30(3):266-73. Epub 2014 Mar 31.

Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.

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http://dx.doi.org/10.1051/medsci/20143003014DOI Listing
March 2014

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Eur J Hum Genet 2014 Feb 15;22(2):289-92. Epub 2013 May 15.

Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2013.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895633PMC
February 2014

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Eur J Hum Genet 2014 Jan 10;22(1):136-9. Epub 2013 Apr 10.

1] Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France [2] Unité INSERM U844, Institut des Neurosciences de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2013.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865400PMC
January 2014

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Am J Med Genet A 2014 Jan 20;164A(1):177-81. Epub 2013 Nov 20.

Département de Génétique Médicale, Centre Hospitalier Universitaire, Montpellier, France.

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http://dx.doi.org/10.1002/ajmg.a.36166DOI Listing
January 2014

[Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability].

Med Sci (Paris) 2014 Jan 24;30(1):55-63. Epub 2014 Jan 24.

Laboratoire de génétique chromosomique, hôpital Arnaud de Villeneuve, CHRU de Montpellier, 371, avenue du doyen Gaston Giraud, 34295 Montpellier, France.

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http://dx.doi.org/10.1051/medsci/20143001014DOI Listing
January 2014

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

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier.

Fertil Steril 2011 Jun 2;95(7):2433.e17-22. Epub 2011 Mar 2.

INSERM U 847, Institute for Research in Biotherapy, CHRU Montpellier, Université Montpellier 1, and Department of Cytogenetics, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.

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http://dx.doi.org/10.1016/j.fertnstert.2011.01.159DOI Listing
June 2011

Global analysis of DNA methylation and transcription of human repetitive sequences.

Epigenetics 2009 Jul 17;4(5):339-50. Epub 2009 Jul 17.

Laboratoire de Biologie Moléculaire de la Cellule UMR CNRS 5239, ENS Lyon, Université LYON 1, HCL, Lyon, France.

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http://dx.doi.org/10.4161/epi.4.5.9284DOI Listing
July 2009

Prader-Willi syndrome: is there a recognizable fetal phenotype?

Prenat Diagn 2008 Sep;28(9):796-9

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Centre Hospitalier Régional et Universitaire, Montpellier, France.

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http://dx.doi.org/10.1002/pd.1973DOI Listing
September 2008

Compared genomics of the strand switch region of Leishmania chromosome 1 reveal a novel genus-specific gene and conserved structural features and sequence motifs.

BMC Genomics 2007 Feb 24;8:57. Epub 2007 Feb 24.

CNRS/Université Montpellier, Biologie Moléculaire, Biologie Cellulaire et Biodiversité des Protozoaires Parasites, Laboratoire de Parasitologie-Mycologie, UFR Médecine, Montpellier, France.

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http://dx.doi.org/10.1186/1471-2164-8-57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1805754PMC
February 2007

Analysis of sperm aneuploidy by PRINS.

Methods Mol Biol 2006 ;334:49-59

Institute of Human Genetics, CNRS UPR 1142, Montpellier, France.

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http://dx.doi.org/10.1385/1-59745-068-5:49DOI Listing
August 2006

Centromeres and neocentromeres.

Methods Mol Biol 2004 ;240:77-104

Centre National de la Recherche Scientifique, Marseilles, France.

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http://dx.doi.org/10.1385/1-59259-434-4:77DOI Listing
April 2004