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Items: 1 to 20 of 99

1.

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. Review.

2.

Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Smith AC.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23. Review.

PMID:
16010676
3.

[Beckwith-Wiedemann syndrome].

Kosho T, Fukushima Y.

Nihon Rinsho. 2006 Sep 28;Suppl 3:587-90. Review. Japanese. No abstract available.

PMID:
17022614
4.

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

Mussa A, Di Candia S, Russo S, Catania S, De Pellegrin M, Di Luzio L, Ferrari M, Tortora C, Meazzini MC, Brusati R, Milani D, Zampino G, Montirosso R, Riccio A, Selicorni A, Cocchi G, Ferrero GB.

Eur J Med Genet. 2016 Jan;59(1):52-64. doi: 10.1016/j.ejmg.2015.11.008. Epub 2015 Nov 22. Review.

PMID:
26592461
5.

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P.

Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Review.

6.

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.

Soejima H, Higashimoto K.

J Hum Genet. 2013 Jul;58(7):402-9. doi: 10.1038/jhg.2013.51. Epub 2013 May 30. Review.

PMID:
23719190
7.

Molecular genetics of Beckwith-Wiedemann syndrome.

Li M, Squire JA, Weksberg R.

Curr Opin Pediatr. 1997 Dec;9(6):623-9. Review.

PMID:
9425596
8.

Beckwith-Wiedemann syndrome and isolated hemihyperplasia.

Gomes MV, Ramos ES.

Sao Paulo Med J. 2003 May 5;121(3):133-8. Epub 2003 Aug 8. Review.

9.

Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.

Azzi S, Abi Habib W, Netchine I.

Curr Opin Endocrinol Diabetes Obes. 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. Review.

PMID:
24322424
10.

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J.

Hum Mol Genet. 2002 May 15;11(11):1317-25.

PMID:
12019213
11.

Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care.

Greer KJ, Kirkpatrick SJ, Weksberg R, Pauli RM.

Am J Med Genet A. 2008 Jul 1;146A(13):1707-12. doi: 10.1002/ajmg.a.32332. Review.

PMID:
18546283
12.

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. doi: 10.1016/j.ejmg.2013.06.005. Epub 2013 Jul 24.

PMID:
23892181
13.

Beckwith-Wiedemann syndrome.

Choufani S, Shuman C, Weksberg R.

Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):343-54. doi: 10.1002/ajmg.c.30267. Review.

PMID:
20803657
14.

Beckwith-Wiedemann syndrome: multiple molecular mechanisms.

Enklaar T, Zabel BU, Prawitt D.

Expert Rev Mol Med. 2006 Jul 17;8(17):1-19. Review.

PMID:
16842655
15.

Another Preemie with Hypoglycemia? Beckwith-Wiedemann Syndrome--A Case Study.

Tower P, Tolia VN.

Neonatal Netw. 2015;34(3):178-82. doi: 10.1891/0730-0832.34.3.178.

PMID:
26802393
16.

Beckwith-Wiedemann Syndrome (BWS): a case report and literature review.

Ogundiran TO, Aghahowa ME, Brown BJ, Irabor DO.

West Afr J Med. 2003 Jan-Mar;22(1):101-2. Review.

PMID:
12769320
17.

The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome.

Gizewska M, Wilk M, Patalan M, Mackay D, Peregud-Pegorzelski J, Gawrych E, Walczak M, Petriczko E, Brodkiewicz A.

Turk J Pediatr. 2014 Mar-Apr;56(2):177-82.

PMID:
24911853
18.

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

Demars J, Gicquel C.

Clin Genet. 2012 Apr;81(4):350-61. doi: 10.1111/j.1399-0004.2011.01822.x. Epub 2012 Jan 16. Review.

PMID:
22150955
19.

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.

20.

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.

Jacob KJ, Robinson WP, Lefebvre L.

Clin Genet. 2013 Oct;84(4):326-34. doi: 10.1111/cge.12143. Epub 2013 Apr 9. Review.

PMID:
23495910

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