Kémény S - Search Results

1

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

Gouas L, Kémény S, Beaufrère AM, Eymard-Pierre E, Pebrel-Richard C, Tchirkov A, Lemery D, Laurichesse-Delmas H, Vago P, Goumy C. Gouas L, et al. Among authors: kemeny s. Cytogenet Genome Res. 2015;146(1):28-32. doi: 10.1159/000435865. Epub 2015 Jul 21. Cytogenet Genome Res. 2015. PMID: 26201711

2

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

Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P. Pebrel-Richard C, et al. Among authors: kemeny s. Eur J Med Genet. 2012 Nov;55(11):650-5. doi: 10.1016/j.ejmg.2012.06.014. Epub 2012 Jul 14. Eur J Med Genet. 2012. PMID: 22796526

3

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

Goumy C, Gay-Bellile M, Eymard-Pierre E, Kemeny S, Gouas L, Déchelotte P, Gallot D, Véronèse L, Tchirkov A, Pebrel-Richard C, Vago P. Goumy C, et al. Among authors: kemeny s. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):507-11. doi: 10.1002/bdra.23246. Epub 2014 Apr 18. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24753315

4

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

Pebrel-Richard C, Rouzade C, Kemeny S, Eymard-Pierre E, Gay-Bellile M, Gouas L, Tchirkov A, Goumy C, Vago P. Pebrel-Richard C, et al. Among authors: kemeny s. Am J Med Genet A. 2014 Nov;164A(11):2964-7. doi: 10.1002/ajmg.a.36715. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25124455 No abstract available.

5

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Pebrel-Richard C, Debost-Legrand A, Eymard-Pierre E, Greze V, Kemeny S, Gay-Bellile M, Gouas L, Tchirkov A, Vago P, Goumy C, Francannet C. Pebrel-Richard C, et al. Among authors: kemeny s. Eur J Hum Genet. 2014 Mar;22(3):369-73. doi: 10.1038/ejhg.2013.141. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860047 Free PMC article.

6

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

Kemeny S, Brugnon F, Eymard-Pierre E, Goumy C, Janny L, Tchirkov A, Francannet C, Vago P, Pebrel-Richard C. Kemeny S, et al. Asian J Androl. 2017 Jan-Feb;19(1):135-137. doi: 10.4103/1008-682X.172818. Asian J Androl. 2017. PMID: 26975482 Free PMC article. No abstract available.

7

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

Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P. Kemeny S, et al. Eur J Med Genet. 2014 Oct;57(10):552-7. doi: 10.1016/j.ejmg.2014.07.003. Epub 2014 Aug 6. Eur J Med Genet. 2014. PMID: 25106685

8

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.

Goumy C, Gay-Bellile M, Salaun G, Kemeny S, Eymard-Pierre E, Biard M, Pebrel-Richard C, Vanlieferinghen P, Francannet C, Tchirkov A, Laurichesse H, Rouzade C, Gouas L, Vago P. Goumy C, et al. Among authors: kemeny s. Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):793-7. doi: 10.1002/bdra.23535. Epub 2016 Jun 27. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27346851

9

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

Kemeny S, Tatout C, Salaun G, Pebrel-Richard C, Goumy C, Ollier N, Maurin E, Pereira B, Vago P, Gouas L. Kemeny S, et al. Chromosoma. 2018 Jun;127(2):247-259. doi: 10.1007/s00412-017-0653-6. Epub 2017 Dec 14. Chromosoma. 2018. PMID: 29238858

10

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

Monkam CY, Kemeny S, Miret A, Pebrel-Richard C, Sarret C. Monkam CY, et al. Among authors: kemeny s. Acta Neurol Belg. 2016 Dec;116(4):683-685. doi: 10.1007/s13760-016-0620-7. Epub 2016 Feb 29. Acta Neurol Belg. 2016. PMID: 26927603 No abstract available.

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