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.
22. Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome. Kim HY; Shin CH; Lee YA; Shin CH; Kim GH; Ko JM Ann Lab Med; 2022 Nov; 42(6):668-677. PubMed ID: 35765875 [TBL] [Abstract][Full Text] [Related]
24. Large offspring syndrome: a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann. Chen Z; Robbins KM; Wells KD; Rivera RM Epigenetics; 2013 Jun; 8(6):591-601. PubMed ID: 23751783 [TBL] [Abstract][Full Text] [Related]
25. An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. Murrell A; Heeson S; Cooper WN; Douglas E; Apostolidou S; Moore GE; Maher ER; Reik W Hum Mol Genet; 2004 Jan; 13(2):247-55. PubMed ID: 14645199 [TBL] [Abstract][Full Text] [Related]
26. 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]
27. Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum. Tüysüz B; Güneş N; Geyik F; Yeşil G; Celkan T; Vural M Am J Med Genet A; 2021 Jun; 185(6):1721-1731. PubMed ID: 33704912 [TBL] [Abstract][Full Text] [Related]
28. 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]
29. Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome. Choufani S; Ko JM; Lou Y; Shuman C; Fishman L; Weksberg R Genes (Basel); 2021 Jan; 12(2):. PubMed ID: 33513760 [TBL] [Abstract][Full Text] [Related]
31. Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Gardiner K; Chitayat D; Choufani S; Shuman C; Blaser S; Terespolsky D; Farrell S; Reiss R; Wodak S; Pu S; Ray PN; Baskin B; Weksberg R Am J Med Genet A; 2012 Jun; 158A(6):1388-94. PubMed ID: 22585446 [TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR. Urakawa T; Ozawa J; Tanaka M; Narusawa H; Matsuoka K; Fukami M; Nagasaki K; Kagami M Eur J Med Genet; 2023 Jan; 66(1):104671. PubMed ID: 36402267 [TBL] [Abstract][Full Text] [Related]
36. 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]
37. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). Meyer E; Lim D; Pasha S; Tee LJ; Rahman F; Yates JR; Woods CG; Reik W; Maher ER PLoS Genet; 2009 Mar; 5(3):e1000423. PubMed ID: 19300480 [TBL] [Abstract][Full Text] [Related]
38. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. Brioude F; Netchine I; Praz F; Le Jule M; Calmel C; Lacombe D; Edery P; Catala M; Odent S; Isidor B; Lyonnet S; Sigaudy S; Leheup B; Audebert-Bellanger S; Burglen L; Giuliano F; Alessandri JL; Cormier-Daire V; Laffargue F; Blesson S; Coupier I; Lespinasse J; Blanchet P; Boute O; Baumann C; Polak M; Doray B; Verloes A; Viot G; Le Bouc Y; Rossignol S Hum Mutat; 2015 Sep; 36(9):894-902. PubMed ID: 26077438 [TBL] [Abstract][Full Text] [Related]
39. A survey of assisted reproductive technology births and imprinting disorders. Bowdin S; Allen C; Kirby G; Brueton L; Afnan M; Barratt C; Kirkman-Brown J; Harrison R; Maher ER; Reardon W Hum Reprod; 2007 Dec; 22(12):3237-40. PubMed ID: 17921133 [TBL] [Abstract][Full Text] [Related]
40. Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature. Sassi H; Elaribi Y; Jilani H; Rejeb I; Hizem S; Sebai M; Kasdallah N; Bouthour H; Hannachi S; Beygo J; Saad A; Buiting K; H'mida Ben-Brahim D; BenJemaa L Mol Genet Genomic Med; 2021 Oct; 9(10):e1796. PubMed ID: 34510813 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]