Larizza L - Search Results

1

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

Limongelli G, Russo S, Digilio MC, Masciadri M, Pacileo G, Fratta F, Martone F, Maddaloni V, D'Alessandro R, Calabro P, Russo MG, Calabro R, Larizza L. Limongelli G, et al. Among authors: larizza l. Am J Med Genet A. 2010 Aug;152A(8):2127-9. doi: 10.1002/ajmg.a.33486. Am J Med Genet A. 2010. PMID: 20635401 No abstract available.

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. Among authors: larizza l. 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. Among authors: larizza l. Clin Genet. 1998 Oct;54(4):309-14. doi: 10.1034/j.1399-0004.1998.5440408.x. Clin Genet. 1998. PMID: 9831342

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

6

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: larizza l. Am J Med Genet. 2002 Aug 15;111(3):319-23. doi: 10.1002/ajmg.10537. Am J Med Genet. 2002. PMID: 12210331

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: larizza l. 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

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

9

Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.

Finelli P, Pincelli AI, Russo S, Bonati MT, Recalcati MP, Masciadri M, Giardino D, Cavagnini F, Larizza L. Finelli P, et al. Among authors: larizza l. Clin Genet. 2007 Mar;71(3):195-204. doi: 10.1111/j.1399-0004.2007.00752.x. Clin Genet. 2007. PMID: 17309641

10

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

Lalatta F, Russo S, Gentilin B, Spaccini L, Boschetto C, Cavalleri F, Masciadri M, Gervasini C, Bentivegna A, Castronovo P, Larizza L. Lalatta F, et al. Among authors: larizza l. Genet Med. 2007 Mar;9(3):188-94. doi: 10.1097/gim.0b013e31803183dd. Genet Med. 2007. PMID: 17413424

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

297 results

Search Page

Filters