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3. 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. PubMed ID: 21780245 [TBL] [Abstract][Full Text] [Related]
4. Epigenetics, genomic imprinting and assisted reproductive technology. Le Bouc Y; Rossignol S; Azzi S; Steunou V; Netchine I; Gicquel C Ann Endocrinol (Paris); 2010 May; 71(3):237-8. PubMed ID: 20362968 [TBL] [Abstract][Full Text] [Related]
5. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome. Lee BH; Kim GH; Oh TJ; Kim JH; Lee JJ; Choi SH; Lee JY; Kim JM; Choi IH; Kim YM; Choi JH; Yoo HW J Hum Genet; 2013 Sep; 58(9):604-10. PubMed ID: 23803580 [TBL] [Abstract][Full Text] [Related]
6. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Azzi S; Rossignol S; Steunou V; Sas T; Thibaud N; Danton F; Le Jule M; Heinrichs C; Cabrol S; Gicquel C; Le Bouc Y; Netchine I Hum Mol Genet; 2009 Dec; 18(24):4724-33. PubMed ID: 19755383 [TBL] [Abstract][Full Text] [Related]
7. Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age. Murphy R; Mackay D; Mitchell EA BMC Med Genet; 2012 Nov; 13():99. PubMed ID: 23116464 [TBL] [Abstract][Full Text] [Related]
8. Imprinted disorders and growth. Giabicani É; Brioude F; Le Bouc Y; Netchine I Ann Endocrinol (Paris); 2017 Jun; 78(2):112-113. PubMed ID: 28478949 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 23182821 [TBL] [Abstract][Full Text] [Related]
10. A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient. Higashimoto K; Jozaki K; Kosho T; Matsubara K; Fuke T; Yamada D; Yatsuki H; Maeda T; Ohtsuka Y; Nishioka K; Joh K; Koseki H; Ogata T; Soejima H Clin Genet; 2014 Dec; 86(6):539-44. PubMed ID: 24299031 [TBL] [Abstract][Full Text] [Related]
11. Association of four imprinting disorders and ART. Hattori H; Hiura H; Kitamura A; Miyauchi N; Kobayashi N; Takahashi S; Okae H; Kyono K; Kagami M; Ogata T; Arima T Clin Epigenetics; 2019 Feb; 11(1):21. PubMed ID: 30732658 [TBL] [Abstract][Full Text] [Related]
12. A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS). Janchevska A; Tasic V; Laban N; Polenakovic M; Gucev Z; Bachmann N; Bergmann C Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2018 Dec; 39(2-3):131-135. PubMed ID: 30864369 [TBL] [Abstract][Full Text] [Related]
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16. A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes. Grosvenor SE; Davies JH; Lever M; Sillibourne J; Mackay DJG; Temple IK Am J Med Genet A; 2022 Jun; 188(6):1896-1903. PubMed ID: 35266280 [TBL] [Abstract][Full Text] [Related]
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