| 1 | BWS, CDKN1C, IMAS
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| Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.
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| Milani D, Pezzani L, Tabano S, Miozzo M.
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| Appl Clin Genet. Sep 16;7:169-75. doi: 10.2147/TACG.S35474. eCollection 2014 2014
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| 2 | BWS, CDKN1C
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| A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases.
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| Kantaputra PN, Sittiwangkul R, Sonsuwan N, Romanelli V, Tenorio J, Lapunzina P.
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| Am J Med Genet A 161(1):192-7. doi: 10.1002/ajmg.a.35663. Epub 2012 Nov 29.
2013
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| 3 | BWS, SRS11
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| Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.
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| Begemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A, Spier I, Eggermann T.
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| J Med Genet 49(9):547-53. Epub 2012 Jul 26.
2012
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| 4 | BWS, H19
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| Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
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| Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ.
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| Eur J Hum Genet 20(2):240-3. doi: 10.1038/ejhg.2011.166. Epub 2011 Aug 24.
2012
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| 5 | BWS, UPDPGW
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| Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
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| Romanelli V, Nevado J, Fraga M, Trujillo AM, Mori MÁ, Fernández L, de Nanclares GP, Martínez-Glez V, Pita G, Meneses H, Gracia R, García-Miñaur S, de Miguel PG, Lecumberri B, Rodríguez JI, Neira AG, Monk D, Lapunzina P.
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| J Med Genet 48(3):212-6. Epub 2010 Nov 19.
2011
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| 6 | BWS, H19, IGF2, SRS11
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| Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
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| Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A.
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| Hum Mol Genet 20(7):1363-74. Epub 2011 Jan 31.
2011
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| 7 | BWS
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| Beckwith-Wiedemann syndrome.
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| Weksberg R, Shuman C, Beckwith JB.
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| Eur J Hum Genet 18(1):8-14. Epub .
2010
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| 8 | BWS, H19, IGF2, SRS11
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| Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.
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| Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C.
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| Hum Mol Genet 19(5):803-14. Epub 2009 Dec 9.PMID: 20007505 2010
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| 9 | BWS
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| Beckwith-Wiedemann syndrome.
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| Choufani S, Shuman C, Weksberg R .
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| Am J Med Genet C Semin Med Genet 154C(3):343-54. Review.PMID: 20803657 2010
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| 10 | BWS, CDKN1C
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| CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
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| Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P.
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| Am J Med Genet A 152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Review.
2010
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| 11 | BWS, GNAS, KCNQ1OT1, PLAGL1
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| Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
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| 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.
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| Eur J Hum Genet 17(5):611-9. Epub 2008 Dec 17.
2009
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| 12 | BWS, NALP2, NLRP2, NLRP7
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| Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).
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| Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, Woods CG, Reik W, Maher ER.
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| PLoS Genet 5(3):e1000423. Epub 2009 Mar 20. 2009
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| 13 | BWS, DLK1, H19
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| Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.
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| Bliek J, Alders M, Maas SM, Oostra RJ, Mackay DM, van der Lip K, Callaway JL, Brooks A, van 't Padje S, Westerveld A, Leschot NJ, Mannens MM.
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| Eur J Hum Genet 17(12):1625-34. Epub 2009 Jun 10.
2009
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| 14 | BWS
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| A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.
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| Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G.
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| J Med Genet Med Genet. 2009 Oct 20. [Epub ahead of print]
2009
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| 15 | BWS, SRS11
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| 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.
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| 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.
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| Hum Mol Genet 18(24):4724-33. Epub 2009 Sep 14.
2009
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| 16 | BWS, CDKN1C, IGF2, SRS11
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| Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.
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| Bliek J, Snijder S, Maas SM, Polstra A, van der Lip K, Alders M, Knegt AC, Mannens MM.
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| Eur J Med Genet 52(6):404-8. Epub 2009 Sep 6.
2009
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| 17 | BWS, SRS11, WHS
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| Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
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| South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC.
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| Am J Med Genet A 146A(20):2691-7. 2008
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| 18 | BWS, SRS11
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| Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.
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| Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N.
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| J Med Genet 45(2):106-13. Epub 2007 Oct 15. 2008
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| 19 | SRS7, BWS
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| Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.
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| Eggermann T, Eggermann K, Schšnherr N.
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| Trends Genet 24(4):195-204. Epub 2008 Mar 7. 2008
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| 20 | IGF2, H19, RB, BWS
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| Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
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| Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A.
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| Hum Mol Genet 17(10):1427-35. Epub 2008 Feb 1. 2008
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| 21 | BWS
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| Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care.
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| Greer KJ, Kirkpatrick SJ, Weksberg R, Pauli RM.
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| Am J Med Genet A 146A(13):1707-12. Review. 2008
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| 22 | BWS, GNASAS, GRB10, HILS, KCNQ1OT1, PEG1/MEST, PEG3, TNDM, ZAC, ZFP57
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| Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.
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| Boonen SE, Pörksen S, Mackay DJ, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK, Hahnemann JM.
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| Eur J Hum Genet 16(4):453-61. Epub 2008 Jan 16. 2008
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| 23 | SRS11, BWS
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| The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
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| Schonherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T.
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| J Med Genet 44(1):59-63. Epub 2006 Sep 8. 2007
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| 24 | BWS
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| Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.
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| Grati FR, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G.
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| J Med Genet [Epub ahead of print] 2007
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| 25 | BWS
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| Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
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| Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A.
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| Hum Mol Genet 16(3):254-64. Epub 2006 Dec 11. 2007
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| 26 | IGF2, BWS, WT1
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| Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis.
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| Algar EM, St Heaps L, Darmanian A, Dagar V, Prawitt D, Peters GB, Collins F.
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| Cancer Res 67(5):2360-5. Epub 2007 Feb 26. 2007
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| 27 | BWS
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| Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
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| Cooper WN, Curley R, Macdonald F, Maher ER.
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| Genomics 89(5):613-7. Epub 2007 Mar 6. 2007
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| 28 | BWS
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| Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
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| Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R.
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| Am J Med Genet A 143A(24):3010-3015 [Epub ahead of print] 2007
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| 29 | BWS, DEL18QD
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| Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.
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| Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portno• MF, Couderc R, Vazquez MP, Bahuau M.
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| Am J Med Genet A 143(23):2796-803. 2007
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| 30 | DEL11QD, BWS
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| Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24).
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| Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tonnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B.
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| Ann Hum Genet 70(Pt 6):958-64. 2006
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| 31 | BWS
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| Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction.
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| Coffee B, Muralidharan K, Highsmith WE Jr, Lapunzina P, Warren ST.
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| Genet Med 8(10):628-34. 2006
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| 32 | BWS
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| The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster.
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| Cerrato F, Sparago A, Di Matteo I, Zou X, Dean W, Sasaki H, Smith P, Genesio R, Bruggemann M, Reik W, Riccio A.
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| Hum Mol Genet 14(4):503-11. Epub 2005 Jan 7. 2005
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| 33 | CTCF, H19, IGF2, BWS, WT1
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| Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.
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| Prawitt D, Enklaar T, Gartner-Rupprecht B, Spangenberg C, Oswald M, Lausch E, Schmidtke P, Reutzel D, Fees S, Lucito R, Korzon M, Brozek I, Limon J, Housman DE, Pelletier J, Zabel B.
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| Proc Natl Acad Sci U S A 102(11):4085-90. Epub 2005 Mar 2. 2005
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| 34 | UPD6P, UPD7M, SRS11, BWS, UPD14M, UPD14P, UPD16, UPD22, UPDXM,
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| Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated.
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| Kotzot D, Utermann G.
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| Am J Med Genet A 136(3):287-305. 2005
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| 35 | BWS
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| Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis.
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| Rump P, Zeegers MP, van Essen AJ.
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| Am J Med Genet A 136(1):95-104. 2005
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| 36 | BWS
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| Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
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| Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER.
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| Eur J Hum Genet [Epub ahead of print] 2005
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| 37 | BWS
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| Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband.
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| Wangler MF, An P, Feinberg AP, Province M, Debaun MR.
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| Am J Med Genet A 137(1):16-21. 2005
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| 38 | CDKN1C, KCNQ1OT1, BWS
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| Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome.
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| Diaz-Meyer N, Yang Y, Sait SN, Maher ER, Higgins MJ.
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| J Med Genet 42(8):648-55. 2005
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| 39 | BWS, H19, KCNQ1OT1
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| Beckwith-Wiedemann syndrome.
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| Weksberg R, Shuman C, Smith AC.
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| Am J Med Genet C Semin Med Genet 137(1):12-23. 2005
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| 40 | BWS, H19, IH
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| Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor.
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| Niemitz EL, Feinberg AP, Brandenburg SA, Grundy PE, Debaun MR.
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| Am J Hum Genet 77(5):887-91. Epub 2005 Oct 3. 2005
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| 41 | AS, BWS
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| Assisted reproduction: the epigenetic perspective.
|
| Horsthemke B, Ludwig M.
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| Hum Reprod Update 11(5):473-82. Epub 2005 Jul 1. Review. 2005
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| 42 | STO, BWS, NSD1
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| Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
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| Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L.
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| Am J Hum Genet 74(4):715-20. Epub 2004 Mar 01. 2004
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| 43 | TRPM5, INS, DMR1, KCNQ1OT1, IGF2, BWS
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| The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.
|
| Du M, Zhou W, Beatty LG, Weksberg R, Sadowski PD.
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| Genomics 84(2):288-300. 2004
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| 44 | BWS, IGF2, H19
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| Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.
|
| Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A.
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| Nat Genet 36(9):958-60. Epub 2004 Aug 15. 2004
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| 45 | KCNQ1OT1, BWS
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| Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome.
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| Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP.
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| Am J Hum Genet 75(5):844-9. Epub 2004 Sep 15. 2004
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| 46 | IGF2, BWS
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| 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.
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| Hum Mol Genet 13(2):247-55. Epub 2003 Nov 25. 2004
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| 47 | CDKN1C, H19, IGF2, KCNQ1OT1, SLC22A18, PHLDA2, BWS
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| Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
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| Weksberg R, Smith AC, Squire J, Sadowski P.
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| Hum Mol Genet 12 Spec No 1:R61-8. 2003
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| 48 | CDKN1C, H19, KCNQ1OT1, BWS
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| Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5.
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| Du M, Beatty LG, Zhou W, Lew J, Schoenherr C, Weksberg R, Sadowski PD.
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| Hum Mol Genet 12(15):1927-39. 2003
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| 49 | KCNQ1OT1, CDKN1C, BWS
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| Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.
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| Diaz-Meyer N, Day CD, Khatod K, Maher ER, Cooper W, Reik W, Junien C, Graham G, Algar E, Der Kaloustian VM, Higgins MJ.
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| J Med Genet 40(11):797-801. 2003
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| 50 | BWS, H19, KCNQ1OT1
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| Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.
|
| DeBaun MR, Niemitz EL, Feinberg AP.
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| Am J Hum Genet 72(1):156-60. Epub 2002 Nov 18. 2003
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| 51 | H19, KCNQ1OT1, BWS
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| Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
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| DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP.
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| Am J Hum Genet 70(3):604-11. 2002
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| 52 | KCNQ1OT1, CDKN1C, BWS
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| Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
|
| Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND.
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| J Am Soc Nephrol 13(8):2077-84. 2002
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| 53 | BWS, KCNQ1OT1, H19
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| Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
|
| Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.
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| Eur J Hum Genet 9(6):409-18. 2001
|
| 54 | BWS, KCNQ1OT1
|
| Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
|
| Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J.
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| Hum Mol Genet 10(26):2989-3000. 2001
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| 55 | BWS, KCNQ1OT1, H19
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| Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
|
| Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM.
|
| Hum Mol Genet 10(5):467-76. 2001
|
| 56 | BWS, IGF2, KTWS1
|
| 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 66(3):841-7. 2000
|
| 57 | BWS
|
| Genetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways.
|
| Steenman M, Westerveld A, Mannens M.
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| Genes Chromosomes Cancer 28(1):1-13. Review. 2000
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| 58 | BWS, CDKN1C
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| Analysis of CDKN1C in Beckwith Wiedemann syndrome.
|
| Algar E, Brickell S, Deeble G, Amor D, Smith P.
|
| Hum Mutat 15(6):497-508. 2000
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| 59 | BWS
|
| Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome.
|
| Squire JA, Li M, Perlikowski S, Fei YL, Bayani J, Zhang ZM, Weksberg R.
|
| Genomics 65(3):234-42. 2000
|
| 60 | BWS, CDKN1C, H19, IGF2, NAP1L4
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| Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome.
|
| Catchpoole D, Smallwood AV, Joyce JA, Murrell A, Lam W, Tang T, Munroe D, Reik W, Schofield PN, Maher ER.
|
| J Med Genet 37(3):212-5. No abstract available. 2000
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| 61 | KCNQ1DN, BWS, CARS, OSBP
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| Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting.
|
| Engemann S, Strodicke M, Paulsen M, Franck O, Reinhardt R, Lane N, Reik W, Walter J.
|
| Hum Mol Genet 9(18):2691-706. 2000
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| 62 | BWS
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| Beckwith-Wiedemann syndrome: imprinting in clusters revisited.
|
| Maher ER, Reik W.
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| J Clin Invest 105(3):247-52. Review. No abstract available. 2000
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| 63 | BWS, CDKN1C
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| Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome.
|
| Bhuiyan ZA, et al.
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| Hum Genet 104(3):205-10. 1999
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| 64 | BWS, KCNQ1, KCNQ1OT1
|
| Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in beckwith-wiedemann syndrome and is independent of insulin-like growth factor II imprinting.
|
| Lee MP, et al.
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| Proc Natl Acad Sci U S A 96(9):5203-8. 1999
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| 65 | BWS
|
| Macroglossia and speech in Beckwith-Wiedemann syndrome: a sample survey study.
|
| Van Borsel J, Van Snick K, Leroy J.
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| Int J Lang Commun Disord 34(2):209-21. 1999
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| 66 | BWS, SLC22A18AS, SLC22A18
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| Transcriptional map of 170-kb region at chromosome 11p15.5 : identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples.
|
| Schwienbacher C, et al.
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| Proc Natl Acad Sci U S A 95 : 3873-3878. 1998
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| 67 | BWS
|
| Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.
|
| Paulsen M, et al.
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| Hum Mol Genet 7(7):1149-59. 1998
|
| 68 | BWS
|
| Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.
|
| Dutly F, Baumer A, Kayserili H, Yuksel-Apak M, Zerova T, Hebisch G, Schinzel A.
|
| Am J Med Genet 79(5):347-53. 1998
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| 69 | BWS, KCNQ1
|
| Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.
|
| Lee MP, et al.
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| Nat Genet 15 : 181-185. 1997
|
| 70 | BWS, H19
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| 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 34(5):353-9. 1997
|
| 71 | BWS, CDKN1C
|
| Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.
|
| O'Keefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, Anyane-Yeboa K, Tycko B.
|
| Am J Hum Genet 61(2):295-303. 1997
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| 72 | BWS, CDKN1C
|
| Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome.
|
| Lee MP, DeBaun M, Randhawa G, Reichard BA, Elledge SJ, Feinberg AP.
|
| Am J Hum Genet 61(2):304-9. 1997
|
| 73 | BWS, IGF2, H19
|
| Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.
|
| Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN.
|
| Hum Mol Genet 6(9):1543-8. 1997
|
| 74 | BWS
|
| Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
|
| Slavotinek A, Gaunt L, Donnai D.
|
| J Med Genet 34(10):819-26. Review. 1997
|
| 75 | BWS, TSSC2, STIM1, ST5
|
| GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development.
|
| Sabbioni S, Barbanti-Brodano G, Croce CM, Negrini M.
|
| Cancer Res 57(20):4493-7. 1997
|
| 76 | ASCL2, BWS, CDKN1C, PHLDA2, KCNQ1, TSSC2, CD81, ST5, TSSC1
|
| A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes.
|
| Hu RJ, Lee MP, Connors TD, Johnson LA, Burn TC, Su K, Landes GM, Feinberg AP.
|
| Genomics 46(1):9-17. 1997
|
| 77 | BWS, WT2
|
| Novel transcribed sequences within the BWS/WT2 region in 11p15.5 : tissue-specific expression correlates with cancer type.
|
| Crider-Miller SJ, Reid LH, Higgins MJ, Nowak NJ, Shows TB, Futreal PA, Weissman BE.
|
| Genomics 46(3):355-63. 1997
|
| 78 | CDKN1C, BWS
|
| An Imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.
|
| Hatada I, et al.
|
| Nat Genet 14 : 171-173. 1996
|
| 79 | BWS, H19, IGF2
|
| Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.
|
| Brown KW, et al.
|
| Hum Mol Genet 5 : 2027-2032. 1996
|
| 80 | BWS, H19, IGF2
|
| Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain.
|
| Reik W, et al.
|
| Hum Mol Genet 4 : 2379-2385. 1995
|
| 81 | BWS
|
| Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments.
|
| Hoovers JMN, et al.
|
| Proc Natl Acad Sci U S A 92 : 12456-12460. 1995
|
| 82 | BWS
|
| Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome.
|
| Bischoff FZ, et al.
|
| Hum Mol Genet 4 : 395-399. 1995
|
| 83 | BWS
|
| Seven megabase yeast artificial chromosome contig at region 11p15 : identification of a yeast artificial chromosome spanning the breakpoint of a chromosomal translocation found in a case of Beckwith-Wiedemann syndrome.
|
| Negrini M, et al.
|
| Cancer Res 55 : 2904-2909. 1995
|
| 84 | BWS, LMO1, ST5, WEE1
|
| Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3.
|
| Redeker E, et al.
|
| Cytogenet Cell Genet 68 : 222-225. 1995
|
| 85 | BWS, TSG16B
|
| A constitutional BWS-related t(11;16) chromosome translocation occurring in the same region of chromosome 16 implicated in Wilms' tumors.
|
| Newsham I, et al.
|
| Genes Chromosomes Cancer 12 : 1-7. 1995
|
| 86 | BWS
|
| Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.
|
| Reik W, et al.
|
| Hum Mol Genet 3 : 1297-1301. 1994
|
| 87 | BWS, ST5, MPZ
|
| Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5.
|
| Sait SNJ, et al.
|
| Genes Chromosomes Cancer 11 : 97-105. 1994
|
| 88 | BWS
|
| Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
|
| Slatter RE, et al.
|
| J Med Genet 31 : 749-753. 1994
|
| 89 | BWS
|
| Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).
|
| Tommerup N, et al.
|
| J Med Genet 30 : 958-961. 1993
|
| 90 | BWS
|
| Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.
|
| Weksberg R, et al.
|
| Hum Mol Genet 2 : 549-556. 1993
|
| 91 | IGF2, BWS
|
| IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome.
|
| Ohlsson R, et al.
|
| Nat Genet 4 : 94-97. 1993
|
| 92 | BWS
|
| Tight linkage between the Beckwith-Wiedemann syndrome and a microsatellite marker for the TH locus.
|
| Nordenskjšld A, et al.
|
| Hum Genet 92 : 296-298. 1993
|
| 93 | BWS
|
| Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
|
| Weksberg R, et al.
|
| Nat Genet 5 : 143-150. 1993
|
| 94 | BWS, ST5
|
| A radiation hybrid map of the distal short arm of human chromosome II, containing the Beckwith-Weidemann and associated embryonal tumor disease loci.
|
| Richard CW, et al.
|
| Am J Hum Genet 52 : 915-921. 1993
|
| 95 | BWS
|
| Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature.
|
| Brown KW, et al.
|
| Cancer Genet Cytogenet 58 : 66-70. 1992
|
| 96 | BWS
|
| Beckwith-Wiedemann syndrome : a demonstration of the mechanisms responsible for the excess of transmitting females.
|
| Moutou C, et al.
|
| J Med Genet 29 : 217-220. 1992
|
| 97 | BWS
|
| Molecular analysis of patients with Wiedemann-Beckwith syndrome I. Gene dosage on the short arm of chromosome 11.
|
| Nystršm A, et al.
|
| Eur J Pediatr 151 : 504-510. 1992
|
| 98 | BWS
|
| Molecular analysis of patients with Wiedemann-Beckwith syndrome II. Paternally derived disomies of chromosome 11.
|
| Nystršm A, et al.
|
| Eur J Pediatr 151 : 511-514. 1992
|
| 99 | BWS
|
| Wiedemann-Beckwith syndrome, associated tumors, region 11p15.5, imprinting and mosaicism.
|
| Boulvin C, et al.
|
| Am J Hum Genet 51 : A57. 1992
|
| 100 | BWS
|
| New markers specific for the 11p15 BWS region.
|
| Puech A, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1969. 1991
|
| 101 | BWS
|
| Uniparental paternal disomy in a genetic cancer-predisposing syndrome.
|
| Henry I, et al.
|
| Nature 351 : 665-667. 1991
|
| 102 | BWS
|
| Embryological and molecular investigations of parental imprinting on mouse chromosome 7.
|
| Ferguson-Smith AC, et al.
|
| Nature 351 : 667-670. 1991
|
| 103 | BWS
|
| Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma.
|
| Henry I, et al.
|
| Hum Genet 81 : 273-277. 1989
|
| 104 | BWS
|
| Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.
|
| Ping AJ, Reeve AE, Law DJ, Young MR, Boehnke M, Feinberg AP.
|
| Am J Hum Genet 44 : 720-723. 1989
|
| 105 | BWS, WT2
|
| Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.
|
| Koufos A, et al.
|
| Am J Hum Genet 44 : 711-719. 1989
|
| 106 | BWS
|
| Dominant inheritance of Wiedemann-Beckwith syndrome: further evidence for transmission of unstable premutation through carrier women.
|
| Aleck KA, Hadro TA.
|
| Am J Med Genet 33 : 155-160. 1989
|
| 107 | BWS
|
| Duplication of HRAS1, INS, and IGF2 is not a comment event in Beckwith-Wiedeman syndrome.
|
| Henry I, Jeanpierre M, Barichard F, Serre JL, Mallet J, Turleau C, de Grouchy J, Junien C.
|
| Ann Genet 31 : 216-220. 1988
|
| 108 | BWS
|
| Loss of alleles on the short arm of the chromosome 11 in a hepatoblastoma from a child with Beckwith-Wiedemann syndrome.
|
| Little MH, et al.
|
| Hum Genet 79 : 186-189. 1988
|
| 109 | BWS
|
| Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome.
|
| Schmutz SM.
|
| Clin Genet 30 : 154-156. 1986
|
| 110 | BWS
|
| Constitutional interstitial deletion of 11p11 and pericentric inversion of chromosome 9 in a patient with Wiedemann-Beckwith syndrome and hepatoblastoma.
|
| Haas OA, et al.
|
| Cancer Genet Cytogenet 23 : 95-104. 1986
|
| 111 | BWS
|
| Wiedemann-Beckwith syndrome : Cancer predisposition and chromosome 11.
|
| Hecht F, et al.
|
| Cancer Genet Cytogenet 23 : 159-161. 1986
|
| 112 | BWS
|
| Trisomy 11p15 and Beckwith-Wiedemann syndrome.
|
| Journel H, et al.
|
| Ann Genet 28 : 97-101. 1985
|
| 113 | BWS
|
| Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.
|
| Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R.
|
| Hum Genet 67(2):219-21. 1984
|
| 114 | BWS
|
| abnormality of chromosome 11 in patients with features of beckwith wiedemann syndrome.
|
| Waziri M, Patil SR, Hanson JW, Bartley JA.
|
| J Pediatr 102 : 873-876. 1983
|