Larizza L - Search Results

1

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: larizza l. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933

2

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

3

New case of the Richieri-Costa/Guion-Almeida syndrome.

Natacci F, Pierri M, Rossetti M, Sala M, Larizza L. Natacci F, et al. Among authors: larizza l. Am J Med Genet. 1999 Apr 23;83(5):419-21. doi: 10.1002/(sici)1096-8628(19990423)83:5<419::aid-ajmg15>3.0.co;2-l. Am J Med Genet. 1999. PMID: 10232755

4

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

Natacci F, Corrado L, Pierri M, Rossetti M, Zuccarini C, Riva P, Miozzo M, Larizza L. Natacci F, et al. Among authors: larizza l. Am J Med Genet. 2000 Dec 18;95(5):467-72. doi: 10.1002/1096-8628(20001218)95:5<467::aid-ajmg11>3.0.co;2-t. Am J Med Genet. 2000. PMID: 11146468

5

FISH with locus-specific probes on stretched chromosomes: a useful tool for genome organization studies.

Bentivegna A, Venturin M, Gervasini C, Corrado L, Larizza L, Riva P. Bentivegna A, et al. Among authors: larizza l. Chromosome Res. 2001;9(2):167-70. doi: 10.1023/a:1009287104812. Chromosome Res. 2001. PMID: 11321371 No abstract available.

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

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

9

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Venturin M, Gervasini C, Orzan F, Bentivegna A, Corrado L, Colapietro P, Friso A, Tenconi R, Upadhyaya M, Larizza L, Riva P. Venturin M, et al. Among authors: larizza l. Hum Genet. 2004 Jun;115(1):69-80. doi: 10.1007/s00439-004-1101-2. Epub 2004 Apr 21. Hum Genet. 2004. PMID: 15103551

10

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.

Gervasini C, Venturin M, Orzan F, Friso A, Clementi M, Tenconi R, Larizza L, Riva P. Gervasini C, et al. Among authors: larizza l. Genomics. 2005 Feb;85(2):273-9. doi: 10.1016/j.ygeno.2004.10.014. Genomics. 2005. PMID: 15676286

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