164 related articles for article (PubMed ID: 26732610)
1. Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.
Vals MA; Kahre T; Mee P; Muru K; Kallas E; Žilina O; Tillmann V; Õunap K
Mol Syndromol; 2015 Sep; 6(3):147-51. PubMed ID: 26732610
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
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. Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.
Õunap K
Mol Syndromol; 2016 Jul; 7(3):110-21. PubMed ID: 27587987
[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. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
Schönherr N; Meyer E; Roos A; Schmidt A; Wollmann HA; Eggermann T
J Med Genet; 2007 Jan; 44(1):59-63. PubMed ID: 16963484
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
Eggermann T
Horm Res; 2009 Apr; 71 Suppl 2():30-5. PubMed ID: 19407494
[TBL] [Abstract][Full Text] [Related]
14. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
Schönherr N; Meyer E; Eggermann K; Ranke MB; Wollmann HA; Eggermann T
Eur J Med Genet; 2006; 49(5):414-8. PubMed ID: 16603426
[TBL] [Abstract][Full Text] [Related]
15. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
Eggermann T; Meyer E; Obermann C; Heil I; Schüler H; Ranke MB; Eggermann K; Wollmann HA
J Med Genet; 2005 May; 42(5):e26. PubMed ID: 15863658
[TBL] [Abstract][Full Text] [Related]
16. Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.
Eggermann T; Schönherr N; Meyer E; Obermann C; Mavany M; Eggermann K; Ranke MB; Wollmann HA
J Med Genet; 2006 Jul; 43(7):615-6. PubMed ID: 16236811
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.
Eggermann T; Begemann M; Pfeiffer L
Clin Epigenetics; 2021 Feb; 13(1):30. PubMed ID: 33541417
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]