Larizza L - Search Results

1

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.

Lopez-Atalaya JP, Gervasini C, Mottadelli F, Spena S, Piccione M, Scarano G, Selicorni A, Barco A, Larizza L. Lopez-Atalaya JP, et al. Among authors: larizza l. J Med Genet. 2012 Jan;49(1):66-74. doi: 10.1136/jmedgenet-2011-100354. Epub 2011 Oct 7. J Med Genet. 2012. PMID: 21984751 Free article.

2

FISH analysis in Prader-Willi and Angelman syndrome patients.

Bettio D, Rizzi N, Giardino D, Grugni G, Briscioli V, Selicorni A, Carnevale F, Larizza L. Bettio D, et al. Among authors: larizza l. Am J Med Genet. 1995 Mar 27;56(2):224-8. doi: 10.1002/ajmg.1320560222. Am J Med Genet. 1995. PMID: 7625450

3

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.

Castorina P, Selicorni A, Bedeschi F, Dalprà L, Larizza L. Castorina P, et al. Among authors: larizza l. Am J Med Genet. 1997 Mar 3;69(1):107-11. doi: 10.1002/(sici)1096-8628(19970303)69:1<107::aid-ajmg21>3.0.co;2-s. Am J Med Genet. 1997. PMID: 9066894

4

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. Among authors: larizza l. Am J Med Genet. 1998 Jan 23;75(3):304-8. Am J Med Genet. 1998. PMID: 9475603

5

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: larizza l. 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

6

Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers.

Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P. Bentivegna A, et al. Among authors: larizza l. Hum Genet. 2001 Jul;109(1):48-54. doi: 10.1007/s004390100536. Hum Genet. 2001. PMID: 11479735

7

Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.

Gervasini C, Bentivegna A, Venturin M, Corrado L, Larizza L, Riva P. Gervasini C, et al. Among authors: larizza l. Hum Genet. 2002 Apr;110(4):314-21. doi: 10.1007/s00439-002-0704-8. Epub 2002 Mar 20. Hum Genet. 2002. PMID: 11941479

8

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26).

Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G, Larizza L. Giardino D, et al. Among authors: larizza l. Am J Med Genet A. 2003 Oct 15;122A(3):261-5. doi: 10.1002/ajmg.a.20287. Am J Med Genet A. 2003. PMID: 12966529

9

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

Colapietro P, Gervasini C, Natacci F, Rossi L, Riva P, Larizza L. Colapietro P, et al. Among authors: larizza l. Hum Genet. 2003 Nov;113(6):551-4. doi: 10.1007/s00439-003-1009-2. Epub 2003 Sep 6. Hum Genet. 2003. PMID: 13680360

10

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: larizza l. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604071

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