Béna F - Search Results

1

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J. Béna F, et al. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23533028 Review.

2

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

3

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

4

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

5

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

6

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.

7

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

8

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

9

Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations.

Ansermet F, Lespinasse J, Gimelli S, Béna F, Paoloni-Giacobino A. Ansermet F, et al. Among authors: bena f. J Child Sex Abus. 2010 May;19(3):337-44. doi: 10.1080/10538711003788991. J Child Sex Abus. 2010. PMID: 20509080

10

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation.

Gimelli S, Divizia MT, Lerone M, Bricco L, Béna F, Antonarakis SE, Ravazzolo R, Gimelli G. Gimelli S, et al. Among authors: bena f. Am J Med Genet A. 2010 Aug;152A(8):2130-3. doi: 10.1002/ajmg.a.33517. Am J Med Genet A. 2010. PMID: 20635368 No abstract available.

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