Tartaglia M - Search Results

1

Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.

Nakhaei-Rad S, Haghighi F, Bazgir F, Dahlmann J, Busley AV, Buchholzer M, Kleemann K, Schänzer A, Borchardt A, Hahn A, Kötter S, Schanze D, Anand R, Funk F, Kronenbitter AV, Scheller J, Piekorz RP, Reichert AS, Volleth M, Wolf MJ, Cirstea IC, Gelb BD, Tartaglia M, Schmitt JP, Krüger M, Kutschka I, Cyganek L, Zenker M, Kensah G, Ahmadian MR. Nakhaei-Rad S, et al. Among authors: tartaglia m. Commun Biol. 2023 Jun 21;6(1):657. doi: 10.1038/s42003-023-05013-8. Commun Biol. 2023. PMID: 37344639 Free PMC article.

2

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. Tartaglia M, et al. Am J Hum Genet. 2002 Jun;70(6):1555-63. doi: 10.1086/340847. Epub 2002 May 1. Am J Hum Genet. 2002. PMID: 11992261 Free PMC article.

3

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

4

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

5

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

6

Germ-line and somatic PTPN11 mutations in human disease.

Tartaglia M, Gelb BD. Tartaglia M, et al. Eur J Med Genet. 2005 Apr-Jun;48(2):81-96. doi: 10.1016/j.ejmg.2005.03.001. Epub 2005 Apr 2. Eur J Med Genet. 2005. PMID: 16053901 Review.

7

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.

8

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim IK, Ying H, Weber U, Perkins LA, Tartaglia M, Mlodzik M, Pick L, Gelb BD. Oishi K, et al. Among authors: tartaglia m. Hum Mol Genet. 2006 Feb 15;15(4):543-53. doi: 10.1093/hmg/ddi471. Epub 2006 Jan 6. Hum Mol Genet. 2006. PMID: 16399795

9

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Gelb BD, Tartaglia M. Gelb BD, et al. Among authors: tartaglia m. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R220-6. doi: 10.1093/hmg/ddl197. Hum Mol Genet. 2006. PMID: 16987887 Review.

10

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: tartaglia m. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483

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