INFORMAZIONI SU QUESTO ARTICOLO

Cita

1. Weksberg, R, Shuman C, Beckwith JB. Beck-with-Wiedemann syndrome. Europ J Hum Genet. 2010; 18: 8–14.10.1038/ejhg.2009.106298715519550435Search in Google Scholar

2. Firth HV, Hurst JA, Hall JG. Beckwith-Wiedemann syndrome (BWS). In: Oxford desk reference: Clinical genetics. Oxford desk reference, 278–279. Oxford University Pres, 2005.10.1093/med/1.1.med-9780192628961-div1-003009Search in Google Scholar

3. Mussa A, Russo S, Larizza L, Riccio A, Ferrero GB. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine. Clin Genet 2016; 89: 403–415.10.1111/cge.1263526138266Search in Google Scholar

4. Shuman C, Beckwith JB, Smith AC, et al. Beck-with-Wiedemann Syndrome. 2000 [Updated 2010 Dec 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2015.Search in Google Scholar

5. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002.1206069510.1093/nar/gnf05611729912060695Search in Google Scholar

6. Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beck-with-Wiedemann syndrome. Hum Genet. 2014; 133(3): 321–30.10.1007/s00439-013-1379-z24154661Search in Google Scholar

7. Rump P, Zeegers MP, van Essen AJ. Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis. Am J Med Genet A. 2005; 136(1): 95–104.10.1002/ajmg.a.3072915887271Search in Google Scholar

8. DeBaun MR, Niemitz EL, McNiel DE, Branderbirg SA, Lee MP, Feinberg AP. Epigenetic Alterations of H19 and LIT1 Distinguish Patients with Beckwith-Wiedemann Syndrome with Cancer and Birth Defects. Am J Hum Genet. 2002; 70: 604–611.10.1086/33893438494011813134Search in Google Scholar

9. Martinez-y-Martinez R, Martinez-Carboney R, Ocampo-Campos R, Rivera H, Gomez Plascencia y Castillo J, Cuevas A, Martin Manrique MC. Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases. Genet Counsel. 1992; 3: 67–76.Search in Google Scholar

10. Clericuzio CL, Martin RA. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. Genet Med. 2009; 11: 220–222.1936719410.1097/GIM.0b013e31819436cf311102619367194Search in Google Scholar

eISSN:
1857-8985
ISSN:
1857-9345
Lingua:
Inglese
Frequenza di pubblicazione:
2 volte all'anno
Argomenti della rivista:
Medicine, Basic Medical Science, History and Ethics of Medicine, Clinical Medicine, other, Social Sciences, Education