Russo S - Search Results

1

Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures.

Mariani M, Bettini LR, Cereda A, Maitz S, Gervasini C, Russo S, Masciadri M, Biondi A, Larizza L, Selicorni A. Mariani M, et al. Among authors: russo s. Am J Med Genet A. 2013 Jul;161A(7):1825-6. doi: 10.1002/ajmg.a.35988. Epub 2013 May 21. Am J Med Genet A. 2013. PMID: 23696053 No abstract available.

2

Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.

Russo S, Selicorni A, Bedeschi MF, Natacci F, Viziello P, Fortuna R, Pagani G, Dalprà L, Larizza L. Russo S, et al. Am J Med Genet. 1998 Jan 23;75(3):304-8. Am J Med Genet. 1998. PMID: 9475603

3

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

Russo S, Cogliati F, Cavalleri F, Cassitto MG, Giglioli R, Toniolo D, Casari G, Larizza L. Russo S, et al. Am J Med Genet. 2000 Oct 23;94(5):376-82. doi: 10.1002/1096-8628(20001023)94:5<376::aid-ajmg6>3.0.co;2-a. Am J Med Genet. 2000. PMID: 11050621

4

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome.

Finelli P, Giardino D, Russo S, Gottardi G, Cogliati F, Grugni G, Natacci F, Larizza L. Finelli P, et al. Among authors: russo s. Am J Med Genet. 2001 Apr 1;99(4):308-13. doi: 10.1002/ajmg.1181. Am J Med Genet. 2001. PMID: 11251998

5

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.

Giardino D, Finelli P, Russo S, Gottardi G, Rodeschini O, Atza MG, Natacci F, Larizza L. Giardino D, et al. Among authors: russo s. Am J Med Genet. 2002 Aug 15;111(3):319-23. doi: 10.1002/ajmg.10537. Am J Med Genet. 2002. PMID: 12210331

6

A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome.

Russo S, Mencarelli M, Cavalleri F, Selicorni A, Cogliati F, Larizza L. Russo S, et al. Mol Cell Probes. 2003 Dec;17(6):295-9. doi: 10.1016/j.mcp.2003.07.002. Mol Cell Probes. 2003. PMID: 14602480

7

Germline mosaicism in Rett syndrome identified by prenatal diagnosis.

Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A. Mari F, et al. Among authors: russo s. Clin Genet. 2005 Mar;67(3):258-60. doi: 10.1111/j.1399-0004.2005.00397.x. Clin Genet. 2005. PMID: 15691364 Free article.

8

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. Musio A, et al. Among authors: russo s. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604071

9

Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.

Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A. Sparago A, et al. Among authors: russo s. Hum Mol Genet. 2007 Feb 1;16(3):254-64. doi: 10.1093/hmg/ddl448. Epub 2006 Dec 11. Hum Mol Genet. 2007. PMID: 17158821

10

Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.

Finelli P, Pincelli AI, Russo S, Bonati MT, Recalcati MP, Masciadri M, Giardino D, Cavagnini F, Larizza L. Finelli P, et al. Among authors: russo s. Clin Genet. 2007 Mar;71(3):195-204. doi: 10.1111/j.1399-0004.2007.00752.x. Clin Genet. 2007. PMID: 17309641

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