De Crescenzo A - Search Results

1

22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review.

Garavelli L, Rosato S, Wischmeijer A, Gelmini C, Esposito A, Mazzanti L, Franchi F, De Crescenzo A, Palumbo O, Carella M, Riccio A. Garavelli L, et al. Among authors: de crescenzo a. Mol Syndromol. 2011 Dec;2(1):35-44. doi: 10.1159/000334262. Epub 2011 Dec 5. Mol Syndromol. 2011. PMID: 22582037 Free PMC article.

2

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

Stagi S, Lapi E, Pantaleo M, Carella M, Petracca A, De Crescenzo A, Zelante L, Riccio A, de Martino M. Stagi S, et al. Among authors: de martino m, de crescenzo a. BMC Med Genet. 2015 Aug 23;16:69. doi: 10.1186/s12881-015-0212-z. BMC Med Genet. 2015. PMID: 26297663 Free PMC article. Review.

3

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.

De Crescenzo A, Sparago A, Cerrato F, Palumbo O, Carella M, Miceli M, Bronshtein M, Riccio A, Yaron Y. De Crescenzo A, et al. J Med Genet. 2013 Feb;50(2):99-103. doi: 10.1136/jmedgenet-2012-101352. Epub 2012 Dec 14. J Med Genet. 2013. PMID: 23243085 Free PMC article.

4

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.

De Crescenzo A, Citro V, Freschi A, Sparago A, Palumbo O, Cubellis MV, Carella M, Castelluccio P, Cavaliere ML, Cerrato F, Riccio A. De Crescenzo A, et al. J Hum Genet. 2015 Jun;60(6):287-93. doi: 10.1038/jhg.2015.29. Epub 2015 Mar 26. J Hum Genet. 2015. PMID: 25809938

5

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.

Cappuccio G, De Crescenzo A, Ciancia G, Canta L, Moio M, Mataro I, Varone V, Pettinato G, Palumbo O, Carella M, Riccio A, Brunetti-Pierri N. Cappuccio G, et al. Among authors: de crescenzo a. Am J Med Genet A. 2014 Jan;164A(1):182-5. doi: 10.1002/ajmg.a.36191. Epub 2013 Nov 8. Am J Med Genet A. 2014. PMID: 24214456

6

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.

Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB. Chiesa N, et al. Among authors: de crescenzo a. Hum Mol Genet. 2012 Jan 1;21(1):10-25. doi: 10.1093/hmg/ddr419. Epub 2011 Sep 14. Hum Mol Genet. 2012. PMID: 21920939 Free PMC article.

7

Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.

Cocchi G, Marsico C, Cosentino A, Spadoni C, Rocca A, De Crescenzo A, Riccio A. Cocchi G, et al. Among authors: de crescenzo a. Am J Med Genet A. 2013 Oct;161A(10):2652-5. doi: 10.1002/ajmg.a.36145. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038823 Free PMC article.

8

Looking for CDKN1C enhancers.

Cerrato F, De Crescenzo A, Riccio A. Cerrato F, et al. Among authors: de crescenzo a. Eur J Hum Genet. 2014 Apr;22(4):442-3. doi: 10.1038/ejhg.2013.234. Epub 2013 Oct 16. Eur J Hum Genet. 2014. PMID: 24129436 Free PMC article. No abstract available.

9

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. Zollino M, et al. Among authors: de crescenzo a. J Med Genet. 2010 Jun;47(6):429-32. doi: 10.1136/jmg.2009.071142. Epub 2009 Oct 20. J Med Genet. 2010. PMID: 19843502

10

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB. Mussa A, et al. Among authors: de crescenzo a. Clin Genet. 2016 Jul;90(1):21-7. doi: 10.1111/cge.12759. Epub 2016 Mar 15. Clin Genet. 2016. PMID: 26857110

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