Laetitia Gouas

Laetitia Gouas

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Laetitia Gouas

Laetitia Gouas

Publications by authors named "Laetitia Gouas"

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24Publications

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Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

Reprod Biomed Online 2018 Jul 9;37(1):100-106. Epub 2018 Apr 9.

Medical Cytogenetics Department, CHU Estaing, F-63003 Clermont-Ferrand, France; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, F-63000 Clermont-Ferrand, France. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2018.03.019DOI Listing
July 2018

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.

Chromosoma 2018 06 14;127(2):247-259. Epub 2017 Dec 14.

ERTICA EA 4677, Université Clermont Auvergne, 63000, Clermont-Ferrand, France.

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http://dx.doi.org/10.1007/s00412-017-0653-6DOI Listing
June 2018

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.

Cytogenet Genome Res 2015 21;146(1):28-32. Epub 2015 Jul 21.

Service de Cytogx00E9;nx00E9;tique Mx00E9;dicale, Unitx00E9; de Mx00E9;decine Fx0153;tale, CHU Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1159/000435865DOI Listing
March 2016

Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage.

S Afr Med J 2015 Sep 19;105(10):870-3. Epub 2015 Sep 19.

Laboratoire de biotoxicologie, Department of Biology, Djillali Liabes University, Algeria; Faculty of Life and Natural Science, Department of Biology, Djillali Liabes University of Sidi Bel Abbès, Algeria.

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http://dx.doi.org/10.7196/SAMJnew.8121DOI Listing
September 2015

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.

Am J Med Genet A 2014 Nov 14;164A(11):2964-7. Epub 2014 Aug 14.

Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Estaing, Clermont-Ferrand, France; ERTICa, EA 4677, Univ Clermont1, UFR Médecine, France.

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http://dx.doi.org/10.1002/ajmg.a.36715DOI Listing
November 2014

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Eur J Med Genet 2014 Oct 6;57(10):552-7. Epub 2014 Aug 6.

Univ Clermont 1, UFR Médecine, Cytologie Histologie Embryologie Cytogénétique, Clermont-Ferrand, F-63001, France; CHU Estaing, Cytogénétique Médicale, Clermont-Ferrand, F-63003, France; ERTICa, Univ Clermont 1, UFR Médecine, Clermont-Ferrand, F-63001, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.07.003DOI Listing
October 2014

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

Birth Defects Res A Clin Mol Teratol 2014 Jun 18;100(6):507-11. Epub 2014 Apr 18.

Cytogénétique Médicale, Université Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.

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http://dx.doi.org/10.1002/bdra.23246DOI Listing
June 2014

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.

Am J Med Genet A 2013 Jan 13;161A(1):162-5. Epub 2012 Dec 13.

Génétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.

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http://dx.doi.org/10.1002/ajmg.a.35614DOI Listing
January 2013

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

Eur J Med Genet 2012 Nov 14;55(11):650-5. Epub 2012 Jul 14.

Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, 1 place Lucie Aubrac, 63003 Clermont-Ferrand Cedex1, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.014DOI Listing
November 2012

Retinoid pathway and congenital diaphragmatic hernia: hypothesis from the analysis of chromosomal abnormalities.

Fetal Diagn Ther 2010 26;28(3):129-39. Epub 2010 May 26.

University Clermont, UFR Médecine, Histologie Embryologie Cytogénétique, CHU Clermont-Ferrand, France.

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https://www.karger.com/Article/FullText/313331
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http://dx.doi.org/10.1159/000313331DOI Listing
February 2011

Fetal skin fibroblasts: a cell model for studying the retinoid pathway in congenital diaphragmatic hernia.

Birth Defects Res A Clin Mol Teratol 2010 Mar;88(3):195-200

Clermont Université, UFR Médecine, Histologie Embryologie Cytogénétique, Clermont-Ferrand, France.

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http://doi.wiley.com/10.1002/bdra.20647
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http://dx.doi.org/10.1002/bdra.20647DOI Listing
March 2010

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

Am J Med Genet A 2008 May;146A(10):1307-11

CHU Clermont-Ferrand, Service de Biochimie Biologie Moléculaire, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/ajmg.a.32278DOI Listing
May 2008

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

Eur J Hum Genet 2005 Nov;13(11):1213-22

INSERM U582, Institut de Myologie, IFR 14, UPMC, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201489DOI Listing
November 2005

A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state.

Can J Cardiol 2005 Sep;21(11):925-31

Institut national de la santé et de la recherche médicale U582, Institut Fédératif de Recherche No 14, Pitié-Salpêtrière Hospital, Paris, France.

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September 2005