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24. 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]
25. 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]
27. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Li M; Squire J; Shuman C; Fei YL; Atkin J; Pauli R; Smith A; Nishikawa J; Chitayat D; Weksberg R Genomics; 2001 Jun; 74(3):370-6. PubMed ID: 11414765 [TBL] [Abstract][Full Text] [Related]
28. A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. Zollino M; Orteschi D; Marangi G; De Crescenzo A; Pecile V; Riccio A; Neri G J Med Genet; 2010 Jun; 47(6):429-32. PubMed ID: 19843502 [TBL] [Abstract][Full Text] [Related]
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30. Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques. Carli D; Operti M; Russo S; Cocchi G; Milani D; Leoni C; Prada E; Melis D; Falco M; Spina J; Uliana V; Sara O; Sirchia F; Tarani L; Macchiaiolo M; Cerrato F; Sparago A; Pignata L; Tannorella P; Cardaropoli S; Bartuli A; Riccio A; Ferrero GB; Mussa A Clin Genet; 2022 Oct; 102(4):314-323. PubMed ID: 35842840 [TBL] [Abstract][Full Text] [Related]
31. Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques. Tenorio J; Romanelli V; Martin-Trujillo A; Fernández GM; Segovia M; Perandones C; Pérez Jurado LA; Esteller M; Fraga M; Arias P; Gordo G; Dapía I; Mena R; Palomares M; Pérez de Nanclares G; Nevado J; García-Miñaur S; Santos-Simarro F; Martinez-Glez V; Vallespín E; ; Monk D; Lapunzina P Am J Med Genet A; 2016 Oct; 170(10):2740-9. PubMed ID: 27480579 [TBL] [Abstract][Full Text] [Related]
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34. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Brioude F; Kalish JM; Mussa A; Foster AC; Bliek J; Ferrero GB; Boonen SE; Cole T; Baker R; Bertoletti M; Cocchi G; Coze C; De Pellegrin M; Hussain K; Ibrahim A; Kilby MD; Krajewska-Walasek M; Kratz CP; Ladusans EJ; Lapunzina P; Le Bouc Y; Maas SM; Macdonald F; Õunap K; Peruzzi L; Rossignol S; Russo S; Shipster C; Skórka A; Tatton-Brown K; Tenorio J; Tortora C; Grønskov K; Netchine I; Hennekam RC; Prawitt D; Tümer Z; Eggermann T; Mackay DJG; Riccio A; Maher ER Nat Rev Endocrinol; 2018 Apr; 14(4):229-249. PubMed ID: 29377879 [TBL] [Abstract][Full Text] [Related]
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