Béna F - Search Results

1

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M, Sinet PM, Delabar JM, Antonarakis SE. Lyle R, et al. Among authors: bena f. Eur J Hum Genet. 2009 Apr;17(4):454-66. doi: 10.1038/ejhg.2008.214. Epub 2008 Nov 12. Eur J Hum Genet. 2009. PMID: 19002211 Free PMC article.

2

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

Makrythanasis P, Gimelli S, Béna F, Dahoun S, Morris MA, Antonarakis SE, Bottani A. Makrythanasis P, et al. Among authors: bena f. Eur J Med Genet. 2012 Jan;55(1):63-6. doi: 10.1016/j.ejmg.2011.11.001. Epub 2011 Nov 10. Eur J Med Genet. 2012. PMID: 22080113

3

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

Makrythanasis P, Moix I, Gimelli S, Fluss J, Aliferis K, Antonarakis SE, Morris MA, Béna F, Bottani A. Makrythanasis P, et al. Among authors: bena f. Clin Genet. 2010 Aug;78(2):175-80. doi: 10.1111/j.1399-0004.2010.01371.x. Epub 2010 Jan 5. Clin Genet. 2010. PMID: 20236124

4

A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features.

Béna F, Bottani A, Marcelli F, Sizonenko LD, Conrad B, Dahoun S. Béna F, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1894-9. doi: 10.1002/ajmg.a.31789. Am J Med Genet A. 2007. PMID: 17632785

5

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.

Lyle R, Prandini P, Osoegawa K, ten Hallers B, Humphray S, Zhu B, Eyras E, Castelo R, Bird CP, Gagos S, Scott C, Cox A, Deutsch S, Ucla C, Cruts M, Dahoun S, She X, Bena F, Wang SY, Van Broeckhoven C, Eichler EE, Guigo R, Rogers J, de Jong PJ, Reymond A, Antonarakis SE. Lyle R, et al. Among authors: bena f. Genome Res. 2007 Nov;17(11):1690-6. doi: 10.1101/gr.6675307. Epub 2007 Sep 25. Genome Res. 2007. PMID: 17895424 Free PMC article.

6

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.

Dahoun S, Gagos S, Gagnebin M, Gehrig C, Burgi C, Simon F, Vieux C, Extermann P, Lyle R, Morris MA, Antonarakis SE, Béna F, Blouin JL. Dahoun S, et al. Among authors: bena f. Am J Med Genet A. 2008 Aug 15;146A(16):2086-93. doi: 10.1002/ajmg.a.32431. Am J Med Genet A. 2008. PMID: 18627064

7

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F. Martinet D, et al. Among authors: bena f. Am J Med Genet A. 2008 Aug 15;146A(16):2094-102. doi: 10.1002/ajmg.a.32414. Am J Med Genet A. 2008. PMID: 18629875

8

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

Lespinasse J, Gimelli S, Béna F, Antonarakis SE, Ansermet F, Paoloni-Giacobino A. Lespinasse J, et al. Among authors: bena f. Eur J Med Genet. 2009 Jan-Feb;52(1):49-52. doi: 10.1016/j.ejmg.2008.10.001. Epub 2008 Oct 21. Eur J Med Genet. 2009. PMID: 18992376

9

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.

Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ. Béna F, et al. Hum Mol Genet. 2010 May 15;19(10):1967-73. doi: 10.1093/hmg/ddq075. Epub 2010 Feb 23. Hum Mol Genet. 2010. PMID: 20179077

10

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

Gimelli S, Makrythanasis P, Stouder C, Antonarakis SE, Bottani A, Béna F. Gimelli S, et al. Among authors: bena f. Eur J Med Genet. 2011 Jan-Feb;54(1):94-6. doi: 10.1016/j.ejmg.2010.09.008. Epub 2010 Oct 8. Eur J Med Genet. 2011. PMID: 20933621

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

59 results

Search Page