330 related articles for article (PubMed ID: 32424032)
1. Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Chang S; Bartolomei MS
Dis Model Mech; 2020 May; 13(5):. PubMed ID: 32424032
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes.
Hur SK; Freschi A; Ideraabdullah F; Thorvaldsen JL; Luense LJ; Weller AH; Berger SL; Cerrato F; Riccio A; Bartolomei MS
Proc Natl Acad Sci U S A; 2016 Sep; 113(39):10938-43. PubMed ID: 27621468
[TBL] [Abstract][Full Text] [Related]
8. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
Eggermann T; Brück J; Knopp C; Fekete G; Kratz C; Tasic V; Kurth I; Elbracht M; Eggermann K; Begemann M
J Mol Med (Berl); 2020 Oct; 98(10):1447-1455. PubMed ID: 32839827
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.
Jacob KJ; Robinson WP; Lefebvre L
Clin Genet; 2013 Oct; 84(4):326-34. PubMed ID: 23495910
[TBL] [Abstract][Full Text] [Related]
11. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
Soejima H; Higashimoto K
J Hum Genet; 2013 Jul; 58(7):402-9. PubMed ID: 23719190
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Nativio R; Sparago A; Ito Y; Weksberg R; Riccio A; Murrell A
Hum Mol Genet; 2011 Apr; 20(7):1363-74. PubMed ID: 21282187
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.
Rovina D; La Vecchia M; Cortesi A; Fontana L; Pesant M; Maitz S; Tabano S; Bodega B; Miozzo M; Sirchia SM
Sci Rep; 2020 May; 10(1):8275. PubMed ID: 32427849
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes.
Liao J; Zeng TB; Pierce N; Tran DA; Singh P; Mann JR; Szabó PE
Cell Rep; 2021 Feb; 34(6):108729. PubMed ID: 33567274
[TBL] [Abstract][Full Text] [Related]
19. Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
Cardarelli L; Sparago A; De Crescenzo A; Nalesso E; Zavan B; Cubellis MV; Selicorni A; Cavicchioli P; Pozzan GB; Petrella M; Riccio A
Pediatr Dev Pathol; 2010; 13(4):326-30. PubMed ID: 20028213
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 29223973
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]