Russo S - Search Results

1

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.

Tannorella P, Minervino D, Guzzetti S, Vimercati A, Calzari L, Patti G, Maghnie M, Allegri AEM, Milani D, Scuvera G, Mariani M, Modena P, Selicorni A, Larizza L, Russo S. Tannorella P, et al. Among authors: russo s. Genes (Basel). 2021 Apr 17;12(4):588. doi: 10.3390/genes12040588. Genes (Basel). 2021. PMID: 33920573 Free PMC article.

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

An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation.

Russo S, Briscioli V, Cogliati F, Macchi M, Lalatta F, Larizza L. Russo S, et al. Clin Genet. 1998 Oct;54(4):309-14. doi: 10.1034/j.1399-0004.1998.5440408.x. Clin Genet. 1998. PMID: 9831342

4

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.

Russo S, Cogliati F, Viri M, Cavalleri F, Selicorni A, Turolla L, Belli S, Romeo A, Larizza L. Russo S, et al. Hum Mutat. 2000 Apr;15(4):387. doi: 10.1002/(SICI)1098-1004(200004)15:4<387::AID-HUMU25>3.0.CO;2-W. Hum Mutat. 2000. PMID: 10737998

5

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.

Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L. Russo S, et al. Clin Dysmorphol. 2000 Jul;9(3):157-62. doi: 10.1097/00019605-200009030-00001. Clin Dysmorphol. 2000. PMID: 10955473

6

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

7

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

8

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

9

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.

Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O. Gimelli G, et al. Among authors: russo s. Hum Mol Genet. 2003 Apr 15;12(8):849-58. doi: 10.1093/hmg/ddg101. Hum Mol Genet. 2003. PMID: 12668608

10

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

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