Gicquel C - Search Results

1

Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylation.

Le Caignec C, Gicquel C, Gubler MC, Guyot C, You MC, Laurent A, Joubert M, Winer N, David A, Rival JM. Le Caignec C, et al. Among authors: gicquel c. Prenat Diagn. 2004 Mar;24(3):165-8. doi: 10.1002/pd.818. Prenat Diagn. 2004. PMID: 15057946

2

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

3

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.

4

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.

Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portnoï MF, Couderc R, Vazquez MP, Bahuau M. Lirussi F, et al. Among authors: gicquel c. Am J Med Genet A. 2007 Dec 1;143A(23):2796-803. doi: 10.1002/ajmg.a.31768. Am J Med Genet A. 2007. PMID: 17994567

5

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

6

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

7

Giant omphalocele and "prune belly" sequence as components of the Beckwith-Wiedemann syndrome.

Sinico M, Touboul C, Haddad B, Encha-Razavi F, Paniel JB, Gicquel C, Gérard-Blanluet M. Sinico M, et al. Among authors: gicquel c. Am J Med Genet A. 2004 Aug 30;129A(2):198-200. doi: 10.1002/ajmg.a.30129. Am J Med Genet A. 2004. PMID: 15316976

8

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

9

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.

Gaston V, Le Bouc Y, Soupre V, Vazquez MP, Gicquel C. Gaston V, et al. Among authors: gicquel c. Horm Res. 2000;54(1):1-5. doi: 10.1159/000063429. Horm Res. 2000. PMID: 11182628

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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