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3. 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]
4. 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]
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6. Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age. Murphy R; Mackay D; Mitchell EA BMC Med Genet; 2012 Nov; 13():99. PubMed ID: 23116464 [TBL] [Abstract][Full Text] [Related]
7. Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny. Tannorella P; Calzari L; Daolio C; Mainini E; Vimercati A; Gentilini D; Soli F; Pedrolli A; Bonati MT; Larizza L; Russo S Clin Epigenetics; 2022 Mar; 14(1):43. PubMed ID: 35317853 [TBL] [Abstract][Full Text] [Related]
8. Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? Sano S; Matsubara K; Nagasaki K; Kikuchi T; Nakabayashi K; Hata K; Fukami M; Kagami M; Ogata T J Hum Genet; 2016 Aug; 61(8):765-9. PubMed ID: 27121328 [TBL] [Abstract][Full Text] [Related]
10. Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b. Maupetit-Méhouas S; Azzi S; Steunou V; Sakakini N; Silve C; Reynes C; Perez de Nanclares G; Keren B; Chantot S; Barlier A; Linglart A; Netchine I Hum Mutat; 2013 Aug; 34(8):1172-80. PubMed ID: 23649963 [TBL] [Abstract][Full Text] [Related]
11. Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Court F; Martin-Trujillo A; Romanelli V; Garin I; Iglesias-Platas I; Salafsky I; Guitart M; Perez de Nanclares G; Lapunzina P; Monk D Hum Mutat; 2013 Apr; 34(4):595-602. PubMed ID: 23335487 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
16. Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting. Poole RL; Baple E; Crolla JA; Temple IK; Mackay DJ Am J Med Genet A; 2010 Aug; 152A(8):1990-3. PubMed ID: 20635366 [TBL] [Abstract][Full Text] [Related]