| 1 | LEOPS, PTPN11
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| Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
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| Edouard T, Combier JP, Nédélec A, Bel-Vialar S, Métrich M, Conte-Auriol F, Lyonnet S, Parfait B, Tauber M, Salles JP, Lezoualc'h F, Yart A, Raynal P.
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| Mol Cell Biol 30(10):2498-507. Epub 2010 Mar 22.PMID: 20308328 2010
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| 2 | LEOPS, PTPN11
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| Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
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| Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, Su J, Pardo S, Lichtenbelt KD, Tartaglia M, Gelb BD, Lemischka IR.
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| Nature 465(7299):808-12.PMID: 20535210 2010
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| 3 | LEOPS, PTPN11
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| Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
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| Oishi K, Zhang H, Gault WJ, Wang CJ, Tan CC, Kim IK, Ying H, Rahman T, Pica N, Tartaglia M, Mlodzik M, Gelb BD.
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| Hum Mol Genet 18(1):193-201. Epub 2008 Oct 11.
2009
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| 4 | LEOPS, NS1, PTPN11
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| Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
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| Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M.
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| Hum Mol Genet 17(13):2018-29. Epub 2008 Mar 27.
2008
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| 5 | BRAF, CFC2, CFC3, COSTS, HRAS, KRAS, LEOPS, MAP2K1, MAPK1, MTOR, NF1, NFNS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
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| Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases.
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| Krab LC, Goorden SM, Elgersma Y.
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| Trends Genet 24(10):498-510. Epub 2008 Sep 4. 2008
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| 6 | LEOPS, LEOPS2
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| Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.
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| Limongelli G, Pacileo G, Marino B, Digilio MC, Sarkozy A, Elliott P, Versacci P, Calabro P, De Zorzi A, Di Salvo G, Syrris P, Patton M, McKenna WJ, Dallapiccola B, Calabro R.
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| Am J Cardiol 100(4):736-41. Epub 2007 Jun 27.
2007
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| 7 | PTPN11, LEOPS, NS1
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| Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease.
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| Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt I, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD.
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| Am J Hum Genet 78(2):279-90. Epub 2005 Dec 7. 2006
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| 8 | PTPN11, LEOPS
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| PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
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| Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG.
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| J Biol Chem 281(10):6785-92. Epub 2005 Dec 23. 2006
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| 9 | PTPN11, LEOPS
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| PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD syndrome phenotype.
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| Digilio MC, Sarkozy A, Pacileo G, Limongelli G, Marino B, Dallapiccola B.
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| Eur J Pediatr 165(11):803-5. Epub 2006 May 30. 2006
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| 10 | CNC1, BZS, PJS1, LEOPS
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| The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis.
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| Bauer AJ, Stratakis CA.
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| J Med Genet 42(11):801-10. Epub 2005 Jun 15. 2005
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| 11 | LEOPS, PTPN11
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| Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
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| Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S.
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| J Hum Genet 50(1):21-5. Epub 2004 Dec 10. 2005
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| 12 | LEOPS, NS1, PTPN11
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| Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
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| Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B.
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| J Med Genet 40(9):704-8. No abstract available. 2003
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| 13 | LEOPS, NS1, PTPN11
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| Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
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| Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B.
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| Am J Hum Genet 71(2):389-94. 2002
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| 14 | LEOPS, PTPN11
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| PTPN11 mutations in LEOPARD syndrome.
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| Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP.
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| J Med Genet 39(8):571-4. 2002
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