Tartaglia M - Search Results

1

Visual function in Noonan and LEOPARD syndrome.

Alfieri P, Cesarini L, Zampino G, Pantaleoni F, Selicorni A, Salerni A, Vasta I, Cerutti M, Dickmann A, Colitto F, Staccioli S, Leoni C, Ricci D, Brogna C, Tartaglia M, Mercuri E. Alfieri P, et al. Among authors: tartaglia m. Neuropediatrics. 2008 Dec;39(6):335-40. doi: 10.1055/s-0029-1216354. Epub 2009 Jun 30. Neuropediatrics. 2008. PMID: 19568997

2

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Tartaglia M, et al. Nat Genet. 2001 Dec;29(4):465-8. doi: 10.1038/ng772. Nat Genet. 2001. PMID: 11704759

3

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.

Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA. Tartaglia M, et al. Clin Genet. 2003 May;63(5):423-6. doi: 10.1034/j.1399-0004.2003.00076.x. Clin Genet. 2003. PMID: 12752577

4

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, Gelb BD. Tartaglia M, et al. Am J Hum Genet. 2004 Sep;75(3):492-7. doi: 10.1086/423493. Epub 2004 Jul 9. Am J Hum Genet. 2004. PMID: 15248152 Free PMC article.

5

Noonan syndrome and related disorders: genetics and pathogenesis.

Tartaglia M, Gelb BD. Tartaglia M, et al. Annu Rev Genomics Hum Genet. 2005;6:45-68. doi: 10.1146/annurev.genom.6.080604.162305. Annu Rev Genomics Hum Genet. 2005. PMID: 16124853 Review.

6

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt Iv, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD. Tartaglia M, et al. Am J Hum Genet. 2006 Feb;78(2):279-90. doi: 10.1086/499925. Epub 2005 Dec 7. Am J Hum Genet. 2006. PMID: 16358218 Free PMC article.

7

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: tartaglia m. 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.

8

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Carta C, et al. Among authors: tartaglia m. Am J Hum Genet. 2006 Jul;79(1):129-35. doi: 10.1086/504394. Epub 2006 May 1. Am J Hum Genet. 2006. PMID: 16773572 Free PMC article.

9

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M. Zampino G, et al. Among authors: tartaglia m. Hum Mutat. 2007 Mar;28(3):265-72. doi: 10.1002/humu.20431. Hum Mutat. 2007. PMID: 17054105

10

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Tartaglia M, et al. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282

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