Publications by authors named "Anouck Schneider"

19Publications

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

Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?

Fertil Steril 2016 Apr 6;105(4):1035-46. Epub 2016 Jan 6.

Cytogenetic PGD Department, CHU Montpellier University Hospital, Montpellier, France; ART-PGD Department, CHU Montpellier University Hospital, Montpellier, France; INSERM U487, Saint Eloi Hospital, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2015.12.013DOI Listing
April 2016

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

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

Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.

Eur J Med Genet 2012 Nov 4;55(11):625-9. Epub 2012 Aug 4.

Department of Child and Adolescent Psychiatry, University Hospital of Reims, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.07.009DOI Listing
November 2012

Analysis using fish of sperm and embryos from two carriers of rare rob(13;21) and rob(15;22) robertsonian translocation undergoing PGD.

Eur J Med Genet 2012 Apr 22;55(4):245-51. Epub 2012 Feb 22.

Unité de Cytogénétique DPI, Département de Biologie de la Reproduction, CHU Montpellier, Hôpital Arnaud de Villeneuve, 34295 Montpellier, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.02.003DOI Listing
April 2012

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

Epiphyseal punctate calcifications (stippling) in complete trisomy 9.

Prenat Diagn 2009 Nov;29(11):1085-8

Service de Génétique Médicale et Chromosomique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Université Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1002/pd.2350DOI Listing
November 2009