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Items: 1 to 20 of 286

1.

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. doi: 10.1002/ajmg.a.35358. Epub 2012 May 14.

PMID:
22585446
2.

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ.

Eur J Hum Genet. 2012 Feb;20(2):240-3. doi: 10.1038/ejhg.2011.166. Epub 2011 Aug 24.

3.

Patient-specific induced pluripotent stem-cell models for long-QT syndrome.

Moretti A, Bellin M, Welling A, Jung CB, Lam JT, Bott-Flügel L, Dorn T, Goedel A, Höhnke C, Hofmann F, Seyfarth M, Sinnecker D, Schömig A, Laugwitz KL.

N Engl J Med. 2010 Oct 7;363(15):1397-409. doi: 10.1056/NEJMoa0908679. Epub 2010 Jul 21.

4.

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

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.

Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Review.

PMID:
20503313
5.

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.

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.

Hum Mol Genet. 2010 Mar 1;19(5):803-14. doi: 10.1093/hmg/ddp549. Epub 2009 Dec 9.

6.

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G.

J Med Genet. 2010 Jun;47(6):429-32. doi: 10.1136/jmg.2009.071142. Epub 2009 Oct 20.

PMID:
19843502
7.

Dual effects of superovulation: loss of maternal and paternal imprinted methylation in a dose-dependent manner.

Market-Velker BA, Zhang L, Magri LS, Bonvissuto AC, Mann MR.

Hum Mol Genet. 2010 Jan 1;19(1):36-51. doi: 10.1093/hmg/ddp465. Epub .

8.

Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis.

Roepke TK, King EC, Reyna-Neyra A, Paroder M, Purtell K, Koba W, Fine E, Lerner DJ, Carrasco N, Abbott GW.

Nat Med. 2009 Oct;15(10):1186-94. doi: 10.1038/nm.2029. Epub 2009 Sep 20.

9.

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 15;18(24):4724-33. doi: 10.1093/hmg/ddp435. Epub 2009 Sep 14.

10.

The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region.

Lefebvre L, Mar L, Bogutz A, Oh-McGinnis R, Mandegar MA, Paderova J, Gertsenstein M, Squire JA, Nagy A.

Hum Mol Genet. 2009 Nov 15;18(22):4255-67. doi: 10.1093/hmg/ddp379. Epub 2009 Aug 14.

11.

Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Beckwith JB.

Eur J Hum Genet. 2010 Jan;18(1):8-14. doi: 10.1038/ejhg.2009.106. Epub . Review.

12.

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

Arbour L, Rezazadeh S, Eldstrom J, Weget-Simms G, Rupps R, Dyer Z, Tibbits G, Accili E, Casey B, Kmetic A, Sanatani S, Fedida D.

Genet Med. 2008 Jul;10(7):545-50. doi: 10.1097GIM.0b013e31817c6b19.

PMID:
18580685
13.

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.

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.

Hum Mol Genet. 2008 May 15;17(10):1427-35. doi: 10.1093/hmg/ddn031. Epub 2008 Feb 1.

14.

KCNQ potassium channel mutations cause cardiac arrhythmias in Drosophila that mimic the effects of aging.

Ocorr K, Reeves NL, Wessells RJ, Fink M, Chen HS, Akasaka T, Yasuda S, Metzger JM, Giles W, Posakony JW, Bodmer R.

Proc Natl Acad Sci U S A. 2007 Mar 6;104(10):3943-8. Epub 2007 Feb 28.

15.

Female predominance and transmission distortion in the long-QT syndrome.

Imboden M, Swan H, Denjoy I, Van Langen IM, Latinen-Forsblom PJ, Napolitano C, Fressart V, Breithardt G, Berthet M, Priori S, Hainque B, Wilde AA, Schulze-Bahr E, Feingold J, Guicheney P.

N Engl J Med. 2006 Dec 28;355(26):2744-51.

16.

Rapid chemically induced changes of PtdIns(4,5)P2 gate KCNQ ion channels.

Suh BC, Inoue T, Meyer T, Hille B.

Science. 2006 Dec 1;314(5804):1454-7. Epub 2006 Sep 21.

17.

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzàlez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.

Clin Genet. 2006 Sep;70(3):214-27.

PMID:
16922724
18.

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. Epub 2006 Jul 6.

19.

KCNQ1-dependent transport in renal and gastrointestinal epithelia.

Vallon V, Grahammer F, Volkl H, Sandu CD, Richter K, Rexhepaj R, Gerlach U, Rong Q, Pfeifer K, Lang F.

Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17864-9. Epub 2005 Nov 28.

20.

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P; D.E.S.I.R. Study Group.

Eur J Hum Genet. 2005 Nov;13(11):1213-22.

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