Pebrel-Richard C - Search Results

1

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

2

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

Goumy C, Gouas L, Pebrel-Richard C, Véronèse L, Eymard-Pierre E, Debost-Legrand A, Haoud K, Tchirkov A, Vago P. Goumy C, et al. Genet Med. 2010 Jun;12(6):376-80. doi: 10.1097/GIM.0b013e3181e074c6. Genet Med. 2010. PMID: 20453657 Free article.

3

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.

Debost-Legrand A, Capri Y, Gouas L, Pebrel-Richard C, Veronese L, Tchirkov A, Haoud K, Boespflug-Tanguy O, Goumy C, Vago P. Debost-Legrand A, et al. Pathol Biol (Paris). 2011 Dec;59(6):309-13. doi: 10.1016/j.patbio.2010.11.004. Epub 2010 Dec 9. Pathol Biol (Paris). 2011. PMID: 21145667

4

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. 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

5

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

Debost-Legrand A, Eymard-Pierre E, Pebrel-Richard C, Gouas L, Goumy C, Giollant M, Ayed W, Tchirkov A, Francannet C, Vago P. Debost-Legrand A, et al. Am J Med Genet A. 2013 Jan;161A(1):162-5. doi: 10.1002/ajmg.a.35614. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239647

6

Prenatal ultrasound diagnosis of a 48,XXYY syndrome.

Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P. Kemeny S, et al. Morphologie. 2013 Jun;97(317):65-7. doi: 10.1016/j.morpho.2013.01.001. Epub 2013 Mar 7. Morphologie. 2013. PMID: 23473874

7

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. 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.

8

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. 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

9

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

10

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. 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.

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