Sparago A - Search Results

1

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion.

Bardaro T, Falco G, Sparago A, Mercadante V, Gean Molins E, Tarantino E, Ursini MV, D'Urso M. Bardaro T, et al. Among authors: sparago a. Hum Mutat. 2003 Jan;21(1):8-11. doi: 10.1002/humu.10150. Hum Mutat. 2003. PMID: 12497627

2

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. Among authors: sparago a. 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

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. Among authors: sparago a. 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

The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.

Freschi A, Del Prete R, Pignata L, Cecere F, Manfrevola F, Mattia M, Cobellis G, Sparago A, Bartolomei MS, Riccio A, Cerrato F. Freschi A, et al. Among authors: sparago a. Hum Mol Genet. 2021 Jul 28;30(16):1509-1520. doi: 10.1093/hmg/ddab132. Hum Mol Genet. 2021. PMID: 34132339 Free PMC article.

5

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. Bliek J, et al. Among authors: sparago a. Eur J Hum Genet. 2009 May;17(5):611-9. doi: 10.1038/ejhg.2008.233. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092779 Free PMC article.

6

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.

Cubellis MV, Pignata L, Verma A, Sparago A, Del Prete R, Monticelli M, Calzari L, Antona V, Melis D, Tenconi R, Russo S, Cerrato F, Riccio A. Cubellis MV, et al. Among authors: sparago a. Clin Epigenetics. 2020 Sep 14;12(1):139. doi: 10.1186/s13148-020-00925-2. Clin Epigenetics. 2020. PMID: 32928291 Free PMC article.

7

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F. Boonen SE, et al. Among authors: sparago a. Clin Epigenetics. 2016 Jun 16;8:69. doi: 10.1186/s13148-016-0236-z. eCollection 2016. Clin Epigenetics. 2016. PMID: 27313795 Free PMC article.

8

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.

Sparago A, Cerrato F, Pignata L, Cammarata-Scalisi F, Garavelli L, Piscopo C, Vancini A, Riccio A. Sparago A, et al. Genes (Basel). 2021 May 9;12(5):706. doi: 10.3390/genes12050706. Genes (Basel). 2021. PMID: 34065128 Free PMC article.

9

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.

Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A. Sparago A, et al. Nat Genet. 2004 Sep;36(9):958-60. doi: 10.1038/ng1410. Epub 2004 Aug 15. Nat Genet. 2004. PMID: 15314640

10

The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster.

Cerrato F, Sparago A, Di Matteo I, Zou X, Dean W, Sasaki H, Smith P, Genesio R, Bruggemann M, Reik W, Riccio A. Cerrato F, et al. Among authors: sparago a. Hum Mol Genet. 2005 Feb 15;14(4):503-11. doi: 10.1093/hmg/ddi047. Epub 2005 Jan 7. Hum Mol Genet. 2005. PMID: 15640248

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