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Items: 1 to 20 of 226


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.


Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.

Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P.

Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19.


Mosaic paternal genome-wide uniparental isodisomy with down syndrome.

Darcy D, Atwal PS, Angell C, Gadi I, Wallerstein R.

Am J Med Genet A. 2015 Oct;167A(10):2463-9. doi: 10.1002/ajmg.a.37187. Epub 2015 Jul 29.


Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.

Gogiel M, Begemann M, Spengler S, Soellner L, Göretzlehner U, Eggermann T, Strobl-Wildemann G.

Eur J Hum Genet. 2013 Jul;21(7):788-91. doi: 10.1038/ejhg.2012.259. Epub 2012 Nov 28.


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.

Eur J Hum Genet. 2001 Jun;9(6):409-18.


A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8. eCollection 2016. Erratum in: Clin Epigenetics. 2016;8:40.


The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.

Wilson M, Peters G, Bennetts B, McGillivray G, Wu ZH, Poon C, Algar E.

Am J Med Genet A. 2008 Jan 15;146A(2):137-48.


Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.

Inbar-Feigenberg M, Choufani S, Cytrynbaum C, Chen YA, Steele L, Shuman C, Ray PN, Weksberg R.

Am J Med Genet A. 2013 Jan;161A(1):13-20. doi: 10.1002/ajmg.a.35651. Epub 2012 Dec 13.


Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.

Putoux A, Labalme A, André JM, Till M, Schluth-Bolard C, Berard J, Bertrand Y, Edery P, Putet G, Sanlaville D.

Am J Med Genet A. 2013 Feb;161A(2):331-7. doi: 10.1002/ajmg.a.35708. Epub 2013 Jan 15.


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.


Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.

Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R.

Am J Med Genet A. 2007 Dec 15;143A(24):3010-5.


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.


Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.

Adachi H, Takahashi I, Higashimoto K, Tsuchida S, Noguchi A, Tamura H, Arai H, Ito T, Masue M, Nishibori H, Takahashi T, Soejima H.

Endocr J. 2013;60(4):403-8. Epub 2012 Nov 30.


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.

Hum Mol Genet. 2001 Dec 15;10(26):2989-3000.


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.


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.


Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.

Cooper WN, Curley R, Macdonald F, Maher ER.

Genomics. 2007 May;89(5):613-7. Epub 2007 Mar 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.


Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.

Liu W, Zhang R, Wei J, Zhang H, Yu G, Li Z, Chen M, Sun X.

Cytogenet Genome Res. 2015;146(1):9-18. doi: 10.1159/000435847. Epub 2015 Jul 16.


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.

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