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4. 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]
5. 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]
6. Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years. Hara-Isono K; Matsubara K; Mikami M; Arima T; Ogata T; Fukami M; Kagami M Clin Epigenetics; 2020 Jul; 12(1):111. PubMed ID: 32698867 [TBL] [Abstract][Full Text] [Related]
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8. Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies. Hiura H; Okae H; Miyauchi N; Sato F; Sato A; Van De Pette M; John RM; Kagami M; Nakai K; Soejima H; Ogata T; Arima T Hum Reprod; 2012 Aug; 27(8):2541-8. PubMed ID: 22674207 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
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12. 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]
13. 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]
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16. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach. Bilo L; Ochoa E; Lee S; Dey D; Kurth I; Kraft F; Rodger F; Docquier F; Toribio A; Bottolo L; Binder G; Fekete G; Elbracht M; Maher ER; Begemann M; Eggermann T Clin Epigenetics; 2023 Mar; 15(1):35. PubMed ID: 36859312 [TBL] [Abstract][Full Text] [Related]
17. 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]
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