Cogliati F - Search Results

1

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. Among authors: cogliati f. Neurogenetics. 2009 Jul;10(3):241-50. doi: 10.1007/s10048-009-0177-1. Epub 2009 Feb 25. Neurogenetics. 2009. PMID: 19241098 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. Among authors: cogliati f. 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. Among authors: cogliati f. 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

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. Among authors: cogliati f. Clin Dysmorphol. 2000 Jul;9(3):157-62. doi: 10.1097/00019605-200009030-00001. Clin Dysmorphol. 2000. PMID: 10955473

5

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. Among authors: cogliati f. 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

6

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: cogliati f. Am J Med Genet. 2001 Apr 1;99(4):308-13. doi: 10.1002/ajmg.1181. Am J Med Genet. 2001. PMID: 11251998

7

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. Among authors: cogliati f. Mol Cell Probes. 2003 Dec;17(6):295-9. doi: 10.1016/j.mcp.2003.07.002. Mol Cell Probes. 2003. PMID: 14602480

8

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: cogliati f. Clin Genet. 2005 Mar;67(3):258-60. doi: 10.1111/j.1399-0004.2005.00397.x. Clin Genet. 2005. PMID: 15691364 Free article.

9

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.

Russo S, Finelli P, Recalcati MP, Ferraiuolo S, Cogliati F, Dalla Bernardina B, Tibiletti MG, Agosti M, Sala M, Bonati MT, Larizza L. Russo S, et al. Among authors: cogliati f. J Med Genet. 2006 Aug;43(8):e39. doi: 10.1136/jmg.2005.038398. J Med Genet. 2006. PMID: 16882733 Free PMC article.

10

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: cogliati f. Neurogenetics. 2007 Aug;8(3):169-78. doi: 10.1007/s10048-007-0086-0. Epub 2007 Apr 6. Neurogenetics. 2007. PMID: 17415598

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