231 related articles for article (PubMed ID: 23116464)
1. 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]
2. 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]
3. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S; Calzari L; Mussa A; Mainini E; Cassina M; Di Candia S; Clementi M; Guzzetti S; Tabano S; Miozzo M; Sirchia S; Finelli P; Prontera P; Maitz S; Sorge G; Calcagno A; Maghnie M; Divizia MT; Melis D; Manfredini E; Ferrero GB; Pecile V; Larizza L
Clin Epigenetics; 2016; 8():23. PubMed ID: 26933465
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi.
Paganini L; Carlessi N; Fontana L; Silipigni R; Motta S; Fiori S; Guerneri S; Lalatta F; Cereda A; Sirchia S; Miozzo M; Tabano S
Epigenetics; 2015; 10(7):643-9. PubMed ID: 26061650
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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
J Med Genet; 2006 Dec; 43(12):902-7. PubMed ID: 16825435
[TBL] [Abstract][Full Text] [Related]
8. Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Acosta-Fernández E; Corona-Rivera JR; Ríos-Flores IM; Torres-Anguiano E; Corona-Rivera A; Peña-Padilla C; Bobadilla-Morales L
Gac Med Mex; 2022; 158(4):202-209. PubMed ID: 36256576
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
Jurkiewicz D; Kugaudo M; Skórka A; Śmigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M
Am J Med Genet A; 2017 Jan; 173(1):72-78. PubMed ID: 27612309
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Epigenetic anomalies in childhood growth disorders.
Netchine I; Rossignol S; Azzi S; Le Bouc Y
Nestle Nutr Inst Workshop Ser; 2013; 71():65-73. PubMed ID: 23502140
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Chiesa N; De Crescenzo A; Mishra K; Perone L; Carella M; Palumbo O; Mussa A; Sparago A; Cerrato F; Russo S; Lapi E; Cubellis MV; Kanduri C; Cirillo Silengo M; Riccio A; Ferrero GB
Hum Mol Genet; 2012 Jan; 21(1):10-25. PubMed ID: 21920939
[TBL] [Abstract][Full Text] [Related]
15. No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.
Schönherr N; Meyer E; Binder G; Wollmann HA; Eggermann T
J Pediatr Endocrinol Metab; 2007 Dec; 20(12):1329-31. PubMed ID: 18341093
[TBL] [Abstract][Full Text] [Related]
16. The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Vals MA; Yakoreva M; Kahre T; Mee P; Muru K; Joost K; Teek R; Soellner L; Eggermann T; Õunap K
Genet Test Mol Biomarkers; 2015 Dec; 19(12):684-91. PubMed ID: 26505556
[TBL] [Abstract][Full Text] [Related]
17. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Baskin B; Choufani S; Chen YA; Shuman C; Parkinson N; Lemyre E; Micheil Innes A; Stavropoulos DJ; Ray PN; Weksberg R
Hum Genet; 2014 Mar; 133(3):321-30. PubMed ID: 24154661
[TBL] [Abstract][Full Text] [Related]
18. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
Demars J; Gicquel C
Clin Genet; 2012 Apr; 81(4):350-61. PubMed ID: 22150955
[TBL] [Abstract][Full Text] [Related]
19. Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S; Abi Habib W; Netchine I
Curr Opin Endocrinol Diabetes Obes; 2014 Feb; 21(1):30-8. PubMed ID: 24322424
[TBL] [Abstract][Full Text] [Related]
20. Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.
Eggermann T; Heilsberg AK; Bens S; Siebert R; Beygo J; Buiting K; Begemann M; Soellner L
J Mol Med (Berl); 2014 Jul; 92(7):769-77. PubMed ID: 24658748
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
