Bonnet C - Search Results

1

Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.

Bonnet C, Masurel-Paulet A, Khan AA, Béri-Dexheimer M, Callier P, Mugneret F, Philippe C, Thauvin-Robinet C, Faivre L, Jonveaux P. Bonnet C, et al. Hum Mutat. 2012 Feb;33(2):355-8. doi: 10.1002/humu.21649. Epub 2011 Nov 28. Hum Mutat. 2012. Retraction in: Hum Mutat. 2020 Apr;41(4):860. doi: 10.1002/humu.23991 PMID: 22124977 Retracted.

2

Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

Bonnet C, Zix C, Grégoire MJ, Brochet K, Duc M, Rousselet F, Philippe C, Jonveaux P. Bonnet C, et al. Am J Med Genet A. 2006 Feb 1;140(3):233-7. doi: 10.1002/ajmg.a.31075. Am J Med Genet A. 2006. PMID: 16411200

3

[Microarray-based comparative genomic hybridization in the study of constitutional chromosomal abnormalities].

Béri-Dexheimer M, Bonnet C, Chambon P, Brochet K, Grégoire MJ, Jonveaux P. Béri-Dexheimer M, et al. Among authors: bonnet c. Pathol Biol (Paris). 2007 Feb;55(1):13-8. doi: 10.1016/j.patbio.2006.04.002. Epub 2006 May 11. Pathol Biol (Paris). 2007. PMID: 16697120 Review. French.

4

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

Bonnet C, Grégoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P. Bonnet C, et al. J Hum Genet. 2006;51(9):815. doi: 10.1007/s10038-006-0023-3. Epub 2006 Aug 10. J Hum Genet. 2006. PMID: 16900295

5

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Grégoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P. Béri-Dexheimer M, et al. Among authors: bonnet c. Eur J Hum Genet. 2008 Aug;16(8):1014-8. doi: 10.1038/ejhg.2008.89. Epub 2008 May 14. Eur J Hum Genet. 2008. PMID: 18478040

6

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Bonnet C, Grégoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P. Bonnet C, et al. J Hum Genet. 2008;53(10):876-885. doi: 10.1007/s10038-008-0321-z. Epub 2008 Jul 24. J Hum Genet. 2008. PMID: 18651096

7

Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation.

Bonnet C, Leheup B, Béri M, Philippe C, Grégoire MJ, Jonveaux P. Bonnet C, et al. Am J Med Genet A. 2009 Jun;149A(6):1280-9. doi: 10.1002/ajmg.a.32858. Am J Med Genet A. 2009. PMID: 19449417

8

A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations.

Valduga M, Philippe C, Bach Segura P, Thiebaugeorges O, Miton A, Beri M, Bonnet C, Nemos C, Foliguet B, Jonveaux P. Valduga M, et al. Among authors: bonnet c. Prenat Diagn. 2010 Apr;30(4):333-41. doi: 10.1002/pd.2460. Prenat Diagn. 2010. PMID: 20155755

9

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D. Bonnet C, et al. J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902. J Med Genet. 2010. PMID: 20522426

10

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Piard J, Philippe C, Marvier M, Beneteau C, Roth V, Valduga M, Béri M, Bonnet C, Grégoire MJ, Jonveaux P, Leheup B. Piard J, et al. Among authors: bonnet c. Am J Med Genet A. 2010 Aug;152A(8):1933-41. doi: 10.1002/ajmg.a.33521. Am J Med Genet A. 2010. PMID: 20635369

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