Miozzo MR - Search Results

1

Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.

Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L. Moresco G, et al. Among authors: miozzo mr. Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1. Genes Genomics. 2023. PMID: 36454368

2

Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction.

Tabano S, Colapietro P, Cetin I, Grati FR, Zanutto S, Mandò C, Antonazzo P, Pileri P, Rossella F, Larizza L, Sirchia SM, Miozzo M. Tabano S, et al. Epigenetics. 2010 May 16;5(4):313-24. doi: 10.4161/epi.5.4.11637. Epub 2010 May 28. Epigenetics. 2010. PMID: 20418667

3

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

Gervasini C, Grati FR, Lalatta F, Tabano S, Gentilin B, Colapietro P, De Toffol S, Frontino G, Motta F, Maitz S, Bernardini L, Dallapiccola B, Fedele L, Larizza L, Miozzo M. Gervasini C, et al. Genet Med. 2010 Oct;12(10):634-40. doi: 10.1097/GIM.0b013e3181ed6185. Genet Med. 2010. PMID: 20847698 Free article.

4

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, Miozzo M, Uziel G. Salsano E, et al. Orphanet J Rare Dis. 2012 Jan 26;7:10. doi: 10.1186/1750-1172-7-10. Orphanet J Rare Dis. 2012. PMID: 22280810 Free PMC article.

5

X chromosome inactivation pattern in BRCA gene mutation carriers.

Manoukian S, Verderio P, Tabano S, Colapietro P, Pizzamiglio S, Grati FR, Calvello M, Peissel B, Burn J, Pensotti V, Allemani C, Sirchia SM, Radice P, Miozzo M. Manoukian S, et al. Eur J Cancer. 2013 Mar;49(5):1136-41. doi: 10.1016/j.ejca.2012.10.013. Epub 2012 Nov 9. Eur J Cancer. 2013. PMID: 23146957

6

The expression pattern of small nucleolar and small Cajal body-specific RNAs characterizes distinct molecular subtypes of multiple myeloma.

Ronchetti D, Todoerti K, Tuana G, Agnelli L, Mosca L, Lionetti M, Fabris S, Colapietro P, Miozzo M, Ferrarini M, Tassone P, Neri A. Ronchetti D, et al. Blood Cancer J. 2012 Nov 23;2(11):e96. doi: 10.1038/bcj.2012.41. Blood Cancer J. 2012. PMID: 23178508 Free PMC article.

7

SNAT2 expression and regulation in human growth-restricted placentas.

Mandò C, Tabano S, Pileri P, Colapietro P, Marino MA, Avagliano L, Doi P, Bulfamante G, Miozzo M, Cetin I. Mandò C, et al. Pediatr Res. 2013 Aug;74(2):104-10. doi: 10.1038/pr.2013.83. Epub 2013 May 31. Pediatr Res. 2013. PMID: 23728383

8

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, Perotti D, Larizza L, Russo S, Selicorni A, Sirchia SM, Miozzo M. Calvello M, et al. Epigenetics. 2013 Oct;8(10):1053-60. doi: 10.4161/epi.25812. Epub 2013 Aug 5. Epigenetics. 2013. PMID: 23917791 Free PMC article.

9

Gene expression profile analysis of human mesenchymal stem cells from herniated and degenerated intervertebral discs reveals different expression of osteopontin.

Marfia G, Navone SE, Di Vito C, Tabano S, Giammattei L, Di Cristofori A, Gualtierotti R, Tremolada C, Zavanone M, Caroli M, Torchia F, Miozzo M, Rampini P, Riboni L, Campanella R. Marfia G, et al. Stem Cells Dev. 2015 Feb 1;24(3):320-8. doi: 10.1089/scd.2014.0282. Epub 2014 Oct 29. Stem Cells Dev. 2015. PMID: 25203751

10

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.

Milani D, Pezzani L, Tabano S, Miozzo M. Milani D, et al. Appl Clin Genet. 2014 Sep 16;7:169-75. doi: 10.2147/TACG.S35474. eCollection 2014. Appl Clin Genet. 2014. PMID: 25258553 Free PMC article. Review.

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