Francannet C - Search Results

1

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: francannet c. 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

2

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

3

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

4

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

5

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: francannet 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.

6

Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome.

Gremeau AS, Coste K, Blanc P, Goumy C, Francannet C, Dechelotte PJ, Vago P, Laurichesse-Delmas H, Labbe A, Lemery D, Sapin V, Gallot D. Gremeau AS, et al. Among authors: francannet c. Prenat Diagn. 2009 Aug;29(8):816-8. doi: 10.1002/pd.2289. Prenat Diagn. 2009. PMID: 19434659 No abstract available.

7

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: francannet c. 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

8

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: francannet c. 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

9

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: francannet c. 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.

10

Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

Debost-Legrand A, Goumy C, Laurichesse-Delmas H, Déchelotte P, Beaufrère AM, Lémery D, Francannet C, Gallot D. Debost-Legrand A, et al. Among authors: francannet c. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):806-11. doi: 10.1002/bdra.23194. Epub 2013 Nov 6. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24343879

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