These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
25. Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome. Eßinger C; Karch S; Moog U; Fekete G; Lengyel A; Pinti E; Eggermann T; Begemann M Clin Epigenetics; 2020 May; 12(1):63. PubMed ID: 32393365 [TBL] [Abstract][Full Text] [Related]
26. A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation. Demond H; Anvar Z; Jahromi BN; Sparago A; Verma A; Davari M; Calzari L; Russo S; Jahromi MA; Monk D; Andrews S; Riccio A; Kelsey G Genome Med; 2019 Dec; 11(1):84. PubMed ID: 31847873 [TBL] [Abstract][Full Text] [Related]
27. Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus. Valente FM; Sparago A; Freschi A; Hill-Harfe K; Maas SM; Frints SGM; Alders M; Pignata L; Franzese M; Angelini C; Carli D; Mussa A; Gazzin A; Gabbarini F; Acurzio B; Ferrero GB; Bliek J; Williams CA; Riccio A; Cerrato F Genet Med; 2019 Aug; 21(8):1808-1820. PubMed ID: 30635621 [TBL] [Abstract][Full Text] [Related]
28. 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]
29. Multi-locus imprinting disturbances of Beckwith-Wiedemann and Large offspring syndrome/Abnormal offspring syndrome: A brief review. Mangiavacchi PM; Caldas-Bussiere MC; Mendonça MDS; Dias AJB; Rios ÁFL Theriogenology; 2021 Oct; 173():193-201. PubMed ID: 34399383 [TBL] [Abstract][Full Text] [Related]
30. Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences. Elbracht M; Mackay D; Begemann M; Kagan KO; Eggermann T Hum Reprod Update; 2020 Feb; 26(2):197-213. PubMed ID: 32068234 [TBL] [Abstract][Full Text] [Related]
32. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Lim D; Bowdin SC; Tee L; Kirby GA; Blair E; Fryer A; Lam W; Oley C; Cole T; Brueton LA; Reik W; Macdonald F; Maher ER Hum Reprod; 2009 Mar; 24(3):741-7. PubMed ID: 19073614 [TBL] [Abstract][Full Text] [Related]
33. (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome. Fontana L; Bedeschi MF; Cagnoli GA; Costanza J; Persico N; Gangi S; Porro M; Ajmone PF; Colapietro P; Santaniello C; Crippa M; Sirchia SM; Miozzo M; Tabano S Mol Genet Genomic Med; 2020 Sep; 8(9):e1386. PubMed ID: 32627967 [TBL] [Abstract][Full Text] [Related]
34. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. Rossignol S; Steunou V; Chalas C; Kerjean A; Rigolet M; Viegas-Pequignot E; Jouannet P; Le Bouc Y; Gicquel C J Med Genet; 2006 Dec; 43(12):902-7. PubMed ID: 16825435 [TBL] [Abstract][Full Text] [Related]
35. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Bliek J; Verde G; Callaway J; Maas SM; De Crescenzo A; Sparago A; Cerrato F; Russo S; Ferraiuolo S; Rinaldi MM; Fischetto R; Lalatta F; Giordano L; Ferrari P; Cubellis MV; Larizza L; Temple IK; Mannens MM; Mackay DJ; Riccio A Eur J Hum Genet; 2009 May; 17(5):611-9. PubMed ID: 19092779 [TBL] [Abstract][Full Text] [Related]
36. 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]
37. Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes. Sperandeo MP; Ungaro P; Vernucci M; Pedone PV; Cerrato F; Perone L; Casola S; Cubellis MV; Bruni CB; Andria G; Sebastio G; Riccio A Am J Hum Genet; 2000 Mar; 66(3):841-7. PubMed ID: 10712200 [TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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] [Previous] [Next] [New Search]