Goumy C - 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: goumy c. Cytogenet Genome Res. 2015;146(1):28-32. doi: 10.1159/000435865. Epub 2015 Jul 21. Cytogenet Genome Res. 2015. PMID: 26201711

2

Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis.

Goumy C, Bonnet-Dupeyron MN, Cherasse Y, Laurichesse H, Jaffray JY, Lacroute G, Geneix A, Lemery D, Vago P. Goumy C, et al. Prenat Diagn. 2004 Apr;24(4):249-56. doi: 10.1002/pd.845. Prenat Diagn. 2004. PMID: 15065097

3

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. Prenat Diagn. 2005 Aug;25(8):653-5. doi: 10.1002/pd.1216. Prenat Diagn. 2005. PMID: 16049989

4

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. Morphologie. 2005 Jun;89(285):71-5. doi: 10.1016/s1286-0115(05)83241-2. Morphologie. 2005. PMID: 16110742

5

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. Genet Couns. 2006;17(3):371-9. Genet Couns. 2006. PMID: 17100206

6

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. Prenat Diagn. 2008 Feb;28(2):131-4. doi: 10.1002/pd.1928. Prenat Diagn. 2008. PMID: 18236428

7

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: goumy c. 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.

8

Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

Gouas L, Goumy C, Véronèse L, Tchirkov A, Vago P. Gouas L, et al. Among authors: goumy c. Pathol Biol (Paris). 2008 Sep;56(6):345-53. doi: 10.1016/j.patbio.2008.03.010. Epub 2008 Jun 2. Pathol Biol (Paris). 2008. PMID: 18513889 Review.

9

[Prognosis of chronic lymphocytic leukemia: focus on recent biomarkers].

Véronèse L, Tchirkov A, Gouas L, Périssel B, Goumy C, Vago P. Véronèse L, et al. Among authors: goumy c. Ann Biol Clin (Paris). 2008 Jul-Aug;66(4):371-7. doi: 10.1684/abc.2008.0246. Ann Biol Clin (Paris). 2008. PMID: 18725337 Free article. Review. French.

10

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. 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

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