345 related articles for article (PubMed ID: 30221575)
1. Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.
Fontana L; Bedeschi MF; Maitz S; Cereda A; Faré C; Motta S; Seresini A; D'Ursi P; Orro A; Pecile V; Calvello M; Selicorni A; Lalatta F; Milani D; Sirchia SM; Miozzo M; Tabano S
Epigenetics; 2018; 13(9):897-909. PubMed ID: 30221575
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T; Yapici E; Bliek J; Pereda A; Begemann M; Russo S; Tannorella P; Calzari L; de Nanclares GP; Lombardi P; Temple IK; Mackay D; Riccio A; Kagami M; Ogata T; Lapunzina P; Monk D; Maher ER; Tümer Z
Clin Epigenetics; 2022 Mar; 14(1):41. PubMed ID: 35296332
[TBL] [Abstract][Full Text] [Related]
4. Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders.
Kim HY; Shin CH; Shin CH; Ko JM
PLoS One; 2023; 18(8):e0290450. PubMed ID: 37594968
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
Sparago A; Verma A; Patricelli MG; Pignata L; Russo S; Calzari L; De Francesco N; Del Prete R; Palumbo O; Carella M; Mackay DJG; Rezwan FI; Angelini C; Cerrato F; Cubellis MV; Riccio A
Clin Epigenetics; 2019 Dec; 11(1):190. PubMed ID: 31829238
[TBL] [Abstract][Full Text] [Related]
8. Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L; Cecere F; Verma A; Hay Mele B; Monticelli M; Acurzio B; Giaccari C; Sparago A; Hernandez Mora JR; Monteagudo-Sánchez A; Esteller M; Pereda A; Tenorio-Castano J; Palumbo O; Carella M; Prontera P; Piscopo C; Accadia M; Lapunzina P; Cubellis MV; de Nanclares GP; Monk D; Riccio A; Cerrato F
Clin Epigenetics; 2022 May; 14(1):71. PubMed ID: 35643636
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
Fontana L; Tabano S; Maitz S; Colapietro P; Garzia E; Gerli AG; Sirchia SM; Miozzo M
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33810554
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Molecular characterization of temple syndrome families with 14q32 epimutations.
Brück J; Begemann M; Dey D; Elbracht M; Eggermann T
Eur J Med Genet; 2020 Dec; 63(12):104077. PubMed ID: 33010492
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]