W. Reik and J. Walter, Genomic imprinting: parental influence on the genome, Nature Reviews Genetics, vol.2, issue.1, pp.21-32, 2001.
DOI : 10.1038/35047554

K. Delaval and R. Feil, Epigenetic regulation of mammalian genomic imprinting, Current Opinion in Genetics & Development, vol.14, issue.2, pp.188-195, 2004.
DOI : 10.1016/j.gde.2004.01.005

C. Gicquel, L. Bouc, and Y. , Hormonal Regulation of Fetal Growth, Hormone Research in Paediatrics, vol.65, issue.3, 2006.
DOI : 10.1159/000091503

G. Audry, M. P. Vazquez, and C. Gicquel, Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome, Eur J Hum Genet, vol.9, pp.409-418, 2001.

W. N. Cooper, A. Luharia, G. A. Evans, H. Raza, A. C. Haire et al., Molecular subtypes and phenotypic expression of Beckwith???Wiedemann syndrome, European Journal of Human Genetics, vol.387, issue.9, pp.1025-1032, 2005.
DOI : 10.1038/sj.ejhg.5201463

C. Gicquel, S. Rossignol, S. Cabrol, M. Houang, V. Steunou et al., Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome, Nature Genetics, vol.10, issue.9, pp.1003-1007, 2005.
DOI : 10.1053/jhep.2002.32524

R. Weksberg, C. Shuman, and J. B. Beckwith, Beckwith-Wiedemann syndrome, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.286, issue.1, pp.8-14, 2010.
DOI : 10.1002/ajmg.c.30058

URL : https://hal.archives-ouvertes.fr/hal-01319105

I. Henry, C. Bonaiti-pellie, V. Chehensse, C. Beldjord, C. Schwartz et al., Uniparental paternal disomy in a genetic cancer-predisposing syndrome, Nature, vol.351, issue.6328, pp.665-667, 1991.
DOI : 10.1038/351665a0

H. Bullman, M. Lever, D. O. Robinson, D. J. Mackay, S. E. Holder et al., Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome, Journal of Medical Genetics, vol.45, issue.6, pp.396-399, 2008.
DOI : 10.1136/jmg.2007.057059

J. Bliek, S. Snijder, S. M. Maas, A. Polstra, K. Van-der-lip et al., Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions, European Journal of Medical Genetics, vol.52, issue.6, pp.404-408, 2009.
DOI : 10.1016/j.ejmg.2009.08.006

I. Netchine, S. Rossignol, M. N. Dufourg, S. Azzi, A. Rousseau et al., 11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations, The Journal of Clinical Endocrinology & Metabolism, vol.92, issue.8, pp.3148-3154, 2007.
DOI : 10.1210/jc.2007-0354

A. Sparago, F. Cerrato, M. Vernucci, G. B. Ferrero, M. C. Silengo et al., Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome, Nature Genetics, vol.12, issue.9, pp.958-960, 2004.
DOI : 10.1038/ng0495-395

A. Sparago, S. Russo, F. Cerrato, S. Ferraiuolo, P. Castorina et al., Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour, Human Molecular Genetics, vol.16, issue.3, pp.254-264, 2007.
DOI : 10.1093/hmg/ddl448

R. H. Scott, J. Douglas, L. Baskcomb, N. Huxter, K. Barker et al., Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor, Nature Genetics, vol.91, issue.11, pp.1329-1334, 2008.
DOI : 10.1038/ng.243

J. Demars, M. E. Shmela, S. Rossignol, J. Okabe, I. Netchine et al., 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, Human Molecular Genetics, vol.19, issue.5, pp.803-814, 2010.
DOI : 10.1093/hmg/ddp549

E. L. Niemitz, M. R. Debaun, J. Fallon, K. Murakami, H. Kugoh et al., Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome, The American Journal of Human Genetics, vol.75, issue.5, pp.844-849, 2004.
DOI : 10.1086/425343

M. P. Lee, R. J. Hu, L. A. Johnson, and A. P. Feinberg, Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements, Nature Genetics, vol.384, issue.2, pp.181-185, 1997.
DOI : 10.1038/ng0297-181

D. Prawitt, T. Enklaar, G. Klemm, B. Gartner, C. Spangenberg et al., Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression, Human Molecular Genetics, vol.9, issue.2, pp.203-216, 2000.
DOI : 10.1093/hmg/9.2.203

N. Schonherr, E. Meyer, A. Roos, A. Schmidt, H. A. Wollmann et al., The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome, Journal of Medical Genetics, vol.44, issue.1, pp.59-63, 2007.
DOI : 10.1136/jmg.2006.044370