Gicquel C - Search Results

1

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ. Poole RL, et al. Among authors: gicquel c. Eur J Hum Genet. 2012 Feb;20(2):240-3. doi: 10.1038/ejhg.2011.166. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863054 Free PMC article.

2

Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region.

Shmela ME, Gicquel CF. Shmela ME, et al. Among authors: gicquel cf. J Med Genet. 2013 Jan;50(1):11-20. doi: 10.1136/jmedgenet-2012-101321. J Med Genet. 2013. PMID: 23240093 Review.

3

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C. Demars J, et al. Among authors: gicquel c. Hum Mol Genet. 2010 Mar 1;19(5):803-14. doi: 10.1093/hmg/ddp549. Epub 2009 Dec 9. Hum Mol Genet. 2010. PMID: 20007505

4

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.

Demars J, Shmela ME, Khan AW, Lee KS, Azzi S, Dehais P, Netchine I, Rossignol S, Le Bouc Y, El-Osta A, Gicquel C. Demars J, et al. Among authors: gicquel c. J Med Genet. 2014 Aug;51(8):502-11. doi: 10.1136/jmedgenet-2014-102368. Epub 2014 Jul 4. J Med Genet. 2014. PMID: 24996904

5

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C. Demars J, et al. Among authors: gicquel c. Hum Mutat. 2011 Oct;32(10):1171-82. doi: 10.1002/humu.21558. Epub 2011 Sep 8. Hum Mutat. 2011. PMID: 21780245 Free article.

6

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.

Abi Habib W, Azzi S, Brioude F, Steunou V, Thibaud N, Das Neves C, Le Jule M, Chantot-Bastaraud S, Keren B, Lyonnet S, Michot C, Rossi M, Pasquier L, Gicquel C, Rossignol S, Le Bouc Y, Netchine I. Abi Habib W, et al. Among authors: gicquel c. Hum Mol Genet. 2014 Nov 1;23(21):5763-73. doi: 10.1093/hmg/ddu290. Epub 2014 Jun 10. Hum Mol Genet. 2014. PMID: 24916376

7

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C. Gaston V, et al. Among authors: gicquel c. Eur J Hum Genet. 2001 Jun;9(6):409-18. doi: 10.1038/sj.ejhg.5200649. Eur J Hum Genet. 2001. PMID: 11436121

8

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Baujat G, et al. Among authors: gicquel c. Am J Hum Genet. 2004 Apr;74(4):715-20. doi: 10.1086/383093. Epub 2004 Mar 1. Am J Hum Genet. 2004. PMID: 14997421 Free PMC article.

9

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

Demars J, Gicquel C. Demars J, et al. Among authors: gicquel c. Clin Genet. 2012 Apr;81(4):350-61. doi: 10.1111/j.1399-0004.2011.01822.x. Epub 2012 Jan 16. Clin Genet. 2012. PMID: 22150955 Review.

10

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.

Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C. Rossignol S, et al. Among authors: gicquel c. J Med Genet. 2006 Dec;43(12):902-7. doi: 10.1136/jmg.2006.042135. Epub 2006 Jul 6. J Med Genet. 2006. PMID: 16825435 Free PMC article.

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