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Items: 1 to 20 of 96

1.

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
2.

p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome.

Duquesnes N, Callot C, Jeannot P, Daburon V, Nakayama KI, Manenti S, Davy A, Besson A.

J Pathol. 2016 Jul;239(3):250-61. doi: 10.1002/path.4721. Epub 2016 May 4.

PMID:
27015986
3.

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R.

Hum Genet. 2014 Mar;133(3):321-30. doi: 10.1007/s00439-013-1379-z. Epub 2013 Oct 24.

PMID:
24154661
4.

[Beckwith-Wiedemann syndrome].

Kosho T, Fukushima Y.

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

PMID:
17022614
5.

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
6.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S.

Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6.

PMID:
26077438
7.

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.

J Am Soc Nephrol. 2002 Aug;13(8):2077-84.

8.

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
9.

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients.

Romanelli V, Belinchón A, Campos-Barros A, Heath KE, García-Miñaur S, Martínez-Glez V, Palomo R, Mercado G, Gracia R, Lapunzina P.

Placenta. 2009 Jun;30(6):551-4. doi: 10.1016/j.placenta.2009.03.013. Epub 2009 Apr 21.

PMID:
19386358
10.

Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome.

Bastaki F, Saif F, Al Ali MT, Hamzeh AR.

Saudi Med J. 2016 Feb;37(2):215-6. doi: 10.15537/smj.2016.2.13593. No abstract available.

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. Review.

12.

Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele.

Percesepe A, Bertucci E, Ferrari P, Lugli L, Ferrari F, Mazza V, Forabosco A.

Prenat Diagn. 2008 May;28(5):447-9. doi: 10.1002/pd.1991. No abstract available.

PMID:
18395877
13.

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER.

J Med Genet. 1999 Jul;36(7):518-23.

14.

New p57KIP2 mutations in Beckwith-Wiedemann syndrome.

Hatada I, Nabetani A, Morisaki H, Xin Z, Ohishi S, Tonoki H, Niikawa N, Inoue M, Komoto Y, Okada A, Steichen E, Ohashi H, Fukushima Y, Nakayama M, Mukai T.

Hum Genet. 1997 Oct;100(5-6):681-3.

PMID:
9341892
15.

Beckwith-Wiedemann Syndrome Revisited.

Soussi-Zander C.

Hum Mutat. 2015 Sep;36(9):iii. doi: 10.1002/humu.22662. No abstract available.

PMID:
26270560
16.

Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.

Abadie C, Bernard F, Netchine I, Sanlaville D, Roque A, Rossignol S, Coupier I.

Eur J Med Genet. 2010 Nov-Dec;53(6):400-3. doi: 10.1016/j.ejmg.2010.08.006. Epub 2010 Sep 6.

PMID:
20826236
17.

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.

Gaston V, Le Bouc Y, Soupre V, Vazquez MP, Gicquel C.

Horm Res. 2000;54(1):1-5.

PMID:
11182628
18.

CDKN1C mutations and genital anomalies.

Welsh HI, Stockley TL, Parkinson N, Ardinger HH.

Am J Med Genet A. 2012 Jan;158A(1):265. doi: 10.1002/ajmg.a.34388. Epub 2011 Dec 2. No abstract available.

PMID:
22140035
19.

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
20.

Genomic imprinting and Beckwith-Wiedemann syndrome.

Hatada I, Mukai T.

Histol Histopathol. 2000 Jan;15(1):309-12. Review.

PMID:
10668219

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