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2. Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome. Bischoff FZ; Feldman GL; McCaskill C; Subramanian S; Hughes MR; Shaffer LG Hum Mol Genet; 1995 Mar; 4(3):395-9. PubMed ID: 7795593 [TBL] [Abstract][Full Text] [Related]
3. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Henry I; Puech A; Riesewijk A; Ahnine L; Mannens M; Beldjord C; Bitoun P; Tournade MF; Landrieu P; Junien C Eur J Hum Genet; 1993; 1(1):19-29. PubMed ID: 8069648 [TBL] [Abstract][Full Text] [Related]
4. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Henry I; Bonaiti-Pellié C; Chehensse V; Beldjord C; Schwartz C; Utermann G; Junien C Nature; 1991 Jun; 351(6328):665-7. PubMed ID: 1675767 [TBL] [Abstract][Full Text] [Related]
5. Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome. Eggermann T; Prawitt D Expert Rev Endocrinol Metab; 2022 Nov; 17(6):513-521. PubMed ID: 36377076 [TBL] [Abstract][Full Text] [Related]
6. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. Catchpoole D; Lam WW; Valler D; Temple IK; Joyce JA; Reik W; Schofield PN; Maher ER J Med Genet; 1997 May; 34(5):353-9. PubMed ID: 9152830 [TBL] [Abstract][Full Text] [Related]
7. [Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland]. Pálsson GI; Finnsdóttir V; Jóhannsson JH; Ingvarsson S Laeknabladid; 2005 Nov; 91(11):837-40. PubMed ID: 16264244 [TBL] [Abstract][Full Text] [Related]
8. SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. Keren B; Chantot-Bastaraud S; Brioude F; Mach C; Fonteneau E; Azzi S; Depienne C; Brice A; Netchine I; Le Bouc Y; Siffroi JP; Rossignol S Eur J Med Genet; 2013 Oct; 56(10):546-50. PubMed ID: 23892181 [TBL] [Abstract][Full Text] [Related]
9. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5. Takama Y; Kubota A; Nakayama M; Higashimoto K; Jozaki K; Soejima H Pediatr Int; 2014 Dec; 56(6):931-934. PubMed ID: 25521982 [TBL] [Abstract][Full Text] [Related]
10. Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism. Romanelli V; Nevado J; Fraga M; Trujillo AM; Mori MÁ; Fernández L; Pérez de Nanclares G; Martínez-Glez V; Pita G; Meneses H; Gracia R; García-Miñaur S; García de Miguel P; Lecumberri B; Rodríguez JI; González Neira A; Monk D; Lapunzina P J Med Genet; 2011 Mar; 48(3):212-6. PubMed ID: 21097775 [TBL] [Abstract][Full Text] [Related]
11. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome. Itoh N; Becroft DM; Reeve AE; Morison IM Am J Med Genet; 2000 May; 92(2):111-6. PubMed ID: 10797434 [TBL] [Abstract][Full Text] [Related]
12. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. Slatter RE; Elliott M; Welham K; Carrera M; Schofield PN; Barton DE; Maher ER J Med Genet; 1994 Oct; 31(10):749-53. PubMed ID: 7837249 [TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. Ohtsuka Y; Higashimoto K; Sasaki K; Jozaki K; Yoshinaga H; Okamoto N; Takama Y; Kubota A; Nakayama M; Yatsuki H; Nishioka K; Joh K; Mukai T; Yoshiura KI; Soejima H Clin Genet; 2015 Sep; 88(3):261-6. PubMed ID: 25171146 [TBL] [Abstract][Full Text] [Related]
14. Molecular investigation of familial Beckwith-Wiedemann syndrome: a model for paternal imprinting. Ramesar R; Babaya M; Viljoen D Eur J Hum Genet; 1993; 1(2):109-13. PubMed ID: 8055321 [TBL] [Abstract][Full Text] [Related]
15. Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome. Temple IK Endocr Dev; 2007; 12():113-123. PubMed ID: 17923774 [TBL] [Abstract][Full Text] [Related]
16. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Cooper WN; Curley R; Macdonald F; Maher ER Genomics; 2007 May; 89(5):613-7. PubMed ID: 17337339 [TBL] [Abstract][Full Text] [Related]
17. Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5. Paulsen M; Davies KR; Bowden LM; Villar AJ; Franck O; Fuermann M; Dean WL; Moore TF; Rodrigues N; Davies KE; Hu RJ; Feinberg AP; Maher ER; Reik W; Walter J Hum Mol Genet; 1998 Jul; 7(7):1149-59. PubMed ID: 9618174 [TBL] [Abstract][Full Text] [Related]
18. Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy. Reed JA; Crotwell PL; Stein Q; Mroch A; Davis-Keppen L; Khan A S D Med; 2017 Nov; 70(11):505-509. PubMed ID: 29088522 [TBL] [Abstract][Full Text] [Related]
19. Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. Waziri M; Patil SR; Hanson JW; Bartley JA J Pediatr; 1983 Jun; 102(6):873-6. PubMed ID: 6854451 [TBL] [Abstract][Full Text] [Related]
20. Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing? Maas SM; Krzyzewska IM; Lombardi MPR; Mannens MMA; Vos N; Bliek J Eur J Hum Genet; 2023 Jun; 31(6):615-616. PubMed ID: 37012326 [No Abstract] [Full Text] [Related] [Next] [New Search]