Tartaglia M - Search Results

1

Mutations in ZBTB20 cause Primrose syndrome.

Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: tartaglia m. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102

2

Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders.

Fragale A, Tartaglia M, Bernardini S, Di Stasi AM, Di Rocco C, Velardi F, Teti A, Battaglia PA, Migliaccio S. Fragale A, et al. Among authors: tartaglia m. Am J Pathol. 1999 May;154(5):1465-77. doi: 10.1016/S0002-9440(10)65401-6. Am J Pathol. 1999. PMID: 10329600 Free PMC article. Clinical Trial.

3

A competitive PCR-based method to measure human fibroblast growth factor receptor 1-4 (FGFR1-4) gene expression.

Tartaglia M, Fragale A, Battaglia PA. Tartaglia M, et al. DNA Cell Biol. 2001 Jun;20(6):367-79. doi: 10.1089/10445490152122488. DNA Cell Biol. 2001. PMID: 11445008

4

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

5

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD, Gelb BD. Tartaglia M, et al. Nat Genet. 2003 Jun;34(2):148-50. doi: 10.1038/ng1156. Nat Genet. 2003. PMID: 12717436

6

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

Fragale A, Tartaglia M, Wu J, Gelb BD. Fragale A, et al. Among authors: tartaglia m. Hum Mutat. 2004 Mar;23(3):267-77. doi: 10.1002/humu.20005. Hum Mutat. 2004. PMID: 14974085

7

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.

Tartaglia M, Martinelli S, Cazzaniga G, Cordeddu V, Iavarone I, Spinelli M, Palmi C, Carta C, Pession A, Aricò M, Masera G, Basso G, Sorcini M, Gelb BD, Biondi A. Tartaglia M, et al. Blood. 2004 Jul 15;104(2):307-13. doi: 10.1182/blood-2003-11-3876. Epub 2004 Feb 24. Blood. 2004. PMID: 14982869 Free article.

8

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.

9

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.

10

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.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

828 results

Search Page