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Items: 1 to 20 of 28


Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders.

Abi Habib W, Brioude F, Azzi S, Rossignol S, Linglart A, Sobrier ML, Giabicani É, Steunou V, Harbison MD, Le Bouc Y, Netchine I.

Sci Adv. 2019 Feb 20;5(2):eaau9425. doi: 10.1126/sciadv.aau9425. eCollection 2019 Feb.


Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER.

Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Review.


Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, Van Maldergem L, Trifard V, Giabicani E, Siffroi JP, Le Bouc Y, Netchine I, Brioude F.

J Med Genet. 2018 Mar;55(3):205-213. doi: 10.1136/jmedgenet-2017-104919. Epub 2017 Dec 9.


Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Abi Habib W, Brioude F, Edouard T, Bennett JT, Lienhardt-Roussie A, Tixier F, Salem J, Yuen T, Azzi S, Le Bouc Y, Harbison MD, Netchine I.

Genet Med. 2018 Feb;20(2):250-258. doi: 10.1038/gim.2017.105. Epub 2017 Aug 10.


Imprinted disorders and growth.

Giabicani É, Brioude F, Le Bouc Y, Netchine I.

Ann Endocrinol (Paris). 2017 Jun;78(2):112-113. doi: 10.1016/j.ando.2017.04.010. Epub 2017 May 4.


Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.

Brioude F, Nicolas C, Marey I, Gaillard S, Bernier M, Das Neves C, Le Bouc Y, Touraine P, Netchine I.

Horm Res Paediatr. 2016;86(3):206-211. Epub 2016 Jun 3.


11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.

Abi Habib W, Brioude F, Azzi S, Salem J, Das Neves C, Personnier C, Chantot-Bastaraud S, Keren B, Le Bouc Y, Harbison MD, Netchine I.

Hum Mutat. 2017 Jan;38(1):105-111. doi: 10.1002/humu.23131. Epub 2016 Oct 26.


Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S.

Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6.


Germline correction of an epimutation related to Silver-Russell syndrome.

Bruno C, Carmignac V, Netchine I, Choux C, Duffourd Y, Faivre L, Thauvin-Robinet C, Le Bouc Y, Sagot P, Bourc'his D, Fauque P.

Hum Mol Genet. 2015 Jun 15;24(12):3314-21. doi: 10.1093/hmg/ddv079. Epub 2015 Mar 3.


Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.

Azzi S, Steunou V, Tost J, Rossignol S, Thibaud N, Das Neves C, Le Jule M, Habib WA, Blaise A, Koudou Y, Busato F, Le Bouc Y, Netchine I.

J Med Genet. 2015 Jan;52(1):53-60. doi: 10.1136/jmedgenet-2014-102732. Epub 2014 Nov 13. Erratum in: J Med Genet. 2015 Feb;52(2):144.


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.

J Med Genet. 2014 Aug;51(8):502-11. doi: 10.1136/jmedgenet-2014-102368. Epub 2014 Jul 4.


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.

Hum Mol Genet. 2014 Nov 1;23(21):5763-73. doi: 10.1093/hmg/ddu290. Epub 2014 Jun 10.


Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort.

Azzi S, Sas TC, Koudou Y, Le Bouc Y, Souberbielle JC, Dargent-Molina P, Netchine I, Charles MA.

Epigenetics. 2014 Mar;9(3):338-45. doi: 10.4161/epi.27387. Epub 2013 Dec 6.


SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

Keren B, Chantot-Bastaraud S, Brioude F, Mach C, Fonteneau E, Azzi S, Depienne C, Brice A, Netchine I, Le Bouc Y, Siffroi JP, Rossignol S.

Eur J Med Genet. 2013 Oct;56(10):546-50. doi: 10.1016/j.ejmg.2013.06.005. Epub 2013 Jul 24.


Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms.

Azzi S, Brioude F, Le Bouc Y, Netchine I.

Curr Pharm Des. 2014;20(11):1751-63. Review.


Epigenetic anomalies in childhood growth disorders.

Netchine I, Rossignol S, Azzi S, Le Bouc Y.

Nestle Nutr Inst Workshop Ser. 2013;71:65-73. doi: 10.1159/000342568. Epub 2013 Jan 22.


Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.

Netchine I, Rossignol S, Azzi S, Brioude F, Le Bouc Y.

Endocr Dev. 2012;23:60-70. doi: 10.1159/000341750. Epub 2012 Nov 23.


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.

Hum Mutat. 2011 Oct;32(10):1171-82. doi: 10.1002/humu.21558. Epub 2011 Sep 8.


IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development.

Netchine I, Azzi S, Le Bouc Y, Savage MO.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):181-90. doi: 10.1016/j.beem.2010.08.005. Review.


Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.

Azzi S, Steunou V, Rousseau A, Rossignol S, Thibaud N, Danton F, Le Jule M, Gicquel C, Le Bouc Y, Netchine I.

Hum Mutat. 2011 Feb;32(2):249-58. doi: 10.1002/humu.21403.


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