Vincent Gatinois

Vincent Gatinois

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Vincent Gatinois

Vincent Gatinois

Publications by authors named "Vincent Gatinois"

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Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Eur J Hum Genet 2019 Nov 8;27(11):1692-1700. Epub 2019 Jul 8.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Université de Montpellier, CHU de Montpellier, France.

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http://dx.doi.org/10.1038/s41431-019-0433-2DOI Listing
November 2019

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

Mol Genet Genomic Med 2019 Sep 7: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
September 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

Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length.

Stem Cell Res 2019 Aug 27;39:101515. Epub 2019 Jul 27.

Laboratory of Genome and Stem Cell Plasticity in Development and Aging, Institute for Regenerative Medicine and Biotherapy, INSERM UMR1183, Univ Montpellier, Montpellier, France; SAFE-iPSC Facility INGESTEM, Univ Montpellier, CHU de Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101515DOI Listing
August 2019

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

Eur J Med Genet 2019 Mar 10;62(3):161-166. Epub 2018 Jul 10.

Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, CHU de Montpellier, Université de Montpellier, France; Unité Inserm, U1183, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.003DOI Listing
March 2019

Chromothripsis, a credible chromosomal mechanism in evolutionary process.

Chromosoma 2019 03 7;128(1):1-6. Epub 2018 Aug 7.

Unit of Chromosomal Genetics, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier CHRU, 371 avenue du Doyen Gaston Giraud, 34295, Montpellier CEDEX 5, France.

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http://dx.doi.org/10.1007/s00412-018-0679-4DOI Listing
March 2019

Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo.

Methods Mol Biol 2018 ;1769:35-41

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

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http://link.springer.com/10.1007/978-1-4939-7780-2_3
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http://dx.doi.org/10.1007/978-1-4939-7780-2_3DOI Listing
February 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

Chromoanasynthesis: another way for the formation of complex chromosomal abnormalities in human reproduction.

Hum Reprod 2018 08;33(8):1381-1387

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

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https://academic.oup.com/humrep/article/33/8/1381/5062506
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http://dx.doi.org/10.1093/humrep/dey231DOI Listing
August 2018

An incidental finding of maternal multiple myeloma by non invasive prenatal testing.

Prenat Diagn 2017 12 28;37(12):1257-1260. Epub 2017 Nov 28.

Department of Human Genetics, Center for Human Genetics, and Department of Hematology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.5168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767741PMC
December 2017

Typical facial gestalt in X-linked Kabuki syndrome.

Am J Med Genet A 2016 12 2;170(12):3363-3364. Epub 2016 Aug 2.

CHU de Bordeaux, Service de Génétique Médicale, Hôpital Pellegrin, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.37864DOI Listing
December 2016

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Hum Mutat 2016 Jan 21;37(1):7-15. Epub 2015 Oct 21.

Laboratory of Rare and Autoinflammatory Diseases, CHRU, Montpellier, France.

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http://dx.doi.org/10.1002/humu.22915DOI Listing
January 2016

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

[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

[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