Stephan Kemeny

Stephan Kemeny

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Stephan Kemeny

Stephan Kemeny

Publications by authors named "Stephan Kemeny"

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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

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype.

Asian J Androl 2017 Jan-Feb;19(1):135-137

Department of Medical Cytogenetic, Univ Clermont 1, CHU Estaing, Clermont-Ferrand, France EA 4677, ERTICa, Univ Clermont 1, Clermont-Ferrand, France.

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http://dx.doi.org/10.4103/1008-682X.172818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227663PMC
February 2017

A case which further refines the critical region for 15q25.2 microduplication phenotypes.

Acta Neurol Belg 2016 Dec 29;116(4):683-685. Epub 2016 Feb 29.

Génétique médicale, Université d'Auvergne, Centre hospitalo-universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1007/s13760-016-0620-7DOI Listing
December 2016

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

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

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