Russo S - Search Results

1

Medical care of adolescents and women with Rett syndrome: an Italian study.

Vignoli A, La Briola F, Peron A, Turner K, Savini M, Cogliati F, Russo S, Canevini MP. Vignoli A, et al. Among authors: russo s. Am J Med Genet A. 2012 Jan;158A(1):13-8. doi: 10.1002/ajmg.a.34367. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22139899 Free article.

2

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

3

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

4

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

5

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

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

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes.

Bonati MT, Russo S, Finelli P, Valsecchi MR, Cogliati F, Cavalleri F, Roberts W, Elia M, Larizza L. Bonati MT, et al. Among authors: russo s. Neurogenetics. 2007 Aug;8(3):169-78. doi: 10.1007/s10048-007-0086-0. Epub 2007 Apr 6. Neurogenetics. 2007. PMID: 17415598

9

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.

Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L. Russo S, et al. Neurogenetics. 2009 Jul;10(3):241-50. doi: 10.1007/s10048-009-0177-1. Epub 2009 Feb 25. Neurogenetics. 2009. PMID: 19241098 Free article.

10

Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome.

Specchio N, Balestri M, Striano P, Cilio MR, Nardello R, Patanè S, Margiotta ML, D'Orsi G, Striano S, Russo S, Specchio LM, Cusmai R, Fusco L, Vigevano F. Specchio N, et al. Among authors: russo s. Epilepsy Res. 2010 Feb;88(2-3):112-7. doi: 10.1016/j.eplepsyres.2009.10.005. Epub 2009 Nov 14. Epilepsy Res. 2010. PMID: 19914805

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