Vago P - Search Results

1

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

Blanc P, Gouas L, Francannet C, Giollant M, Vago P, Goumy C. Blanc P, et al. Among authors: vago p. Am J Med Genet A. 2008 May 15;146A(10):1307-11. doi: 10.1002/ajmg.a.32278. Am J Med Genet A. 2008. PMID: 18384146 Review.

2

Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p.

Goumy C, Beaufrère AM, Tchirkov A, Gouas L, Gaspard F, Giollant M, Roucaute T, Veronèse L, Lemery D, Vago P. Goumy C, et al. Among authors: vago p. Prenat Diagn. 2008 Feb;28(2):131-4. doi: 10.1002/pd.1928. Prenat Diagn. 2008. PMID: 18236428

3

Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: a haplosufficient 8.5 Mb region.

Goumy C, Gouas L, Tchirkov A, Roucaute T, Giollant M, Veronèse L, Francannet C, Vago P. Goumy C, et al. Among authors: vago p. Am J Med Genet A. 2008 Oct 15;146A(20):2668-72. doi: 10.1002/ajmg.a.32511. Am J Med Genet A. 2008. PMID: 18798310

4

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

Briand-Suleau A, Martinovic J, Tosca L, Tou B, Brisset S, Bouligand J, Delattre V, Giurgea I, Bachir J, Folliot P, Goumy C, Francannet C, Guiochon-Mantel A, Benachi A, Vermeesch J, Tachdjian G, Vago P, Goossens M, Métay C. Briand-Suleau A, et al. Among authors: vago p. Eur J Med Genet. 2014 Mar;57(4):174-80. doi: 10.1016/j.ejmg.2013.12.013. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486774 Free article.

5

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype.

Goumy C, Beaufrère AM, Francannet C, Tchirkov A, Laurichesse Delmas H, Geissler F, Lemery D, Dechelotte PJ, Vago P. Goumy C, et al. Among authors: vago p. Prenat Diagn. 2005 Aug;25(8):653-5. doi: 10.1002/pd.1216. Prenat Diagn. 2005. PMID: 16049989

6

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: vago p. 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

7

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. Among authors: vago p. 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

8

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. Among authors: vago p. 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

9

An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis.

Goumy C, Mihaescu M, Tchirkov A, Giollant M, Bonnet-Dupeyron MN, Jaffray JY, Geneix A, Perissel B, Francannet C, Boespflug-Tanguy O, Vago P. Goumy C, et al. Among authors: vago p. Morphologie. 2005 Jun;89(285):71-5. doi: 10.1016/s1286-0115(05)83241-2. Morphologie. 2005. PMID: 16110742

10

De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.

Goumy C, Mihaescu M, Tchirkov A, Giollant M, Benier C, Francannet C, Jaffray JY, Geneix A, Vago P. Goumy C, et al. Among authors: vago p. Genet Couns. 2006;17(3):371-9. Genet Couns. 2006. PMID: 17100206

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