Pizzuti A - Search Results

1

Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.

Sinibaldi L, De Luca A, Bellacchio E, Conti E, Pasini A, Paloscia C, Spalletta G, Caltagirone C, Pizzuti A, Dallapiccola B. Sinibaldi L, et al. Among authors: pizzuti a. Hum Mutat. 2004 Dec;24(6):534-5. doi: 10.1002/humu.9292. Hum Mutat. 2004. PMID: 15532024

2

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: pizzuti a. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.

3

A novel PTPN11 mutation in LEOPARD syndrome.

Conti E, Dottorini T, Sarkozy A, Tiller GE, Esposito G, Pizzuti A, Dallapiccola B. Conti E, et al. Among authors: pizzuti a. Hum Mutat. 2003 Jun;21(6):654. doi: 10.1002/humu.9149. Hum Mutat. 2003. PMID: 14961557

4

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Bottillo I, et al. Among authors: pizzuti a. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.

5

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.

Conti E, Grifone N, Sarkozy A, Tandoi C, Marino B, Digilio MC, Mingarelli R, Pizzuti A, Dallapiccola B. Conti E, et al. Among authors: pizzuti a. Eur J Hum Genet. 2003 Apr;11(4):349-51. doi: 10.1038/sj.ejhg.5200956. Eur J Hum Genet. 2003. PMID: 12700609

6

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.

Pizzuti A, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B. Pizzuti A, et al. Hum Mutat. 2003 Nov;22(5):372-7. doi: 10.1002/humu.10261. Hum Mutat. 2003. PMID: 14517948

7

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

Sarkozy A, Obregon MG, Conti E, Esposito G, Mingarelli R, Pizzuti A, Dallapiccola B. Sarkozy A, et al. Among authors: pizzuti a. Eur J Hum Genet. 2004 Dec;12(12):1069-72. doi: 10.1038/sj.ejhg.5201290. Eur J Hum Genet. 2004. PMID: 15470362

8

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B. Digilio MC, et al. Among authors: pizzuti a. Am J Hum Genet. 2002 Aug;71(2):389-94. doi: 10.1086/341528. Epub 2002 Jun 7. Am J Hum Genet. 2002. PMID: 12058348 Free PMC article.

9

Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study.

Di Maria E, Gulli R, Begni S, De Luca A, Bignotti S, Pasini A, Bellone E, Pizzuti A, Dallapiccola B, Novelli G, Ajmar F, Gennarelli M, Mandich P. Di Maria E, et al. Among authors: pizzuti a. Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):27-9. doi: 10.1002/ajmg.b.30028. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15211626

10

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B. Pizzuti A, et al. Hum Mutat. 2004 Mar;23(3):286. doi: 10.1002/humu.9220. Hum Mutat. 2004. PMID: 14974090

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