-
1
-
-
0014337521
-
Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease
-
Noonan, J.A. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am. J. Dis. Child. 116, 373-380 (1968).
-
(1968)
Am. J. Dis. Child
, vol.116
, pp. 373-380
-
-
Noonan, J.A.1
-
2
-
-
33745265268
-
Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype
-
Carta, C. et al. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am. J. Hum. Genet. 79, 129-135 (2006).
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 129-135
-
-
Carta, C.1
-
3
-
-
1542619343
-
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation
-
Fragale, A., Tartaglia, M., Wu, J. & Gelb, B.D. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum. Mutat. 23, 267-277 (2004).
-
(2004)
Hum. Mutat
, vol.23
, pp. 267-277
-
-
Fragale, A.1
Tartaglia, M.2
Wu, J.3
Gelb, B.D.4
-
4
-
-
33644622238
-
Germline KRAS mutations cause Noonan syndrome
-
Schubbert, S. et al. Germline KRAS mutations cause Noonan syndrome. Nat. Genet. 38, 331-336 (2006).
-
(2006)
Nat. Genet
, vol.38
, pp. 331-336
-
-
Schubbert, S.1
-
5
-
-
18344370436
-
PTPN11 mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
-
Tartaglia, M. et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am. J. Hum. Genet. 70, 1555-1563 (2002).
-
(2002)
Am. J. Hum. Genet
, vol.70
, pp. 1555-1563
-
-
Tartaglia, M.1
-
6
-
-
18344385476
-
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
-
Tartaglia, M. et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29, 465-468 (2001).
-
(2001)
Nat. Genet
, vol.29
, pp. 465-468
-
-
Tartaglia, M.1
-
7
-
-
24744465207
-
Diverse biochemical properties of Shp2 mutants: Implications for disease phenotypes
-
Keilhack, H., David, F.S., McGregor, M., Cantley, L.C. & Neel, B.G. Diverse biochemical properties of Shp2 mutants: implications for disease phenotypes. J. Biol. Chem. 280, 30984-30993 (2005).
-
(2005)
J. Biol. Chem
, vol.280
, pp. 30984-30993
-
-
Keilhack, H.1
David, F.S.2
McGregor, M.3
Cantley, L.C.4
Neel, B.G.5
-
8
-
-
31544452561
-
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
-
Tartaglia, M. et al. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am. J. Hum. Genet. 78, 279-290 (2006).
-
(2006)
Am. J. Hum. Genet
, vol.78
, pp. 279-290
-
-
Tartaglia, M.1
-
9
-
-
0036074033
-
Grouping of multiple-Lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
-
Digilio, M.C. et al. Grouping of multiple-Lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am. J. Hum. Genet. 71, 389-394 (2002).
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 389-394
-
-
Digilio, M.C.1
-
10
-
-
0036340975
-
PTPN11 mutations in LEOPARD syndrome
-
Legius, E. et al. PTPN11 mutations in LEOPARD syndrome. J. Med. Genet. 39, 571-574 (2002).
-
(2002)
J. Med. Genet
, vol.39
, pp. 571-574
-
-
Legius, E.1
-
11
-
-
27144531386
-
Germline mutations in HRAS proto-oncogene cause Costello syndrome
-
Aoki, Y. et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat. Genet. 37, 1038-1040 (2005).
-
(2005)
Nat. Genet
, vol.37
, pp. 1038-1040
-
-
Aoki, Y.1
-
12
-
-
33644629727
-
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
-
Niihori, T. et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat. Genet. 38, 294-296 (2006).
-
(2006)
Nat. Genet
, vol.38
, pp. 294-296
-
-
Niihori, T.1
-
13
-
-
33644696097
-
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
-
Rodriguez-Viciana, P. et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311, 1287-1290 (2006).
-
(2006)
Science
, vol.311
, pp. 1287-1290
-
-
Rodriguez-Viciana, P.1
-
15
-
-
0031882763
-
Regulation of Sos activity by intramolecular interactions
-
Corbalan-Garcia, S., Margarit, S.M., Galron, D., Yang, S.S. & Bar-Sagi, D. Regulation of Sos activity by intramolecular interactions. Mol. Cell. Biol. 18, 880-886 (1998).
-
(1998)
Mol. Cell. Biol
, vol.18
, pp. 880-886
-
-
Corbalan-Garcia, S.1
Margarit, S.M.2
Galron, D.3
Yang, S.S.4
Bar-Sagi, D.5
-
16
-
-
28044449725
-
Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator son of sevenless
-
Sondermann, H., Nagar, B., Bar-Sagi, D. & Kuriyan, J. Computational docking and solution x-ray scattering predict a membrane-interacting role for the histone domain of the Ras activator son of sevenless. Proc. Natl. Acad. Sci. USA 102, 16632-16637 (2005).
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 16632-16637
-
-
Sondermann, H.1
Nagar, B.2
Bar-Sagi, D.3
Kuriyan, J.4
-
17
-
-
7044226349
-
Structural analysis of autoinhibition in the Ras activator Son of sevenless
-
Sondermann, H. et al. Structural analysis of autoinhibition in the Ras activator Son of sevenless. Cell 119, 393-405 (2004).
-
(2004)
Cell
, vol.119
, pp. 393-405
-
-
Sondermann, H.1
-
18
-
-
0344885558
-
Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS
-
Margarit, S.M. et al. Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS. Cell 112, 685-695 (2003).
-
(2003)
Cell
, vol.112
, pp. 685-695
-
-
Margarit, S.M.1
-
19
-
-
0036201303
-
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1
-
Hart, T.C. et al. A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am. J. Hum. Genet. 70, 943-954 (2002).
-
(2002)
Am. J. Hum. Genet
, vol.70
, pp. 943-954
-
-
Hart, T.C.1
-
20
-
-
0034651705
-
The Sos1 and Sos2 Ras-specific exchange factors: Differences in placental expression and signaling properties
-
Qian, X. et al. The Sos1 and Sos2 Ras-specific exchange factors: differences in placental expression and signaling properties. EMBO J. 19, 642-654 (2000).
-
(2000)
EMBO J
, vol.19
, pp. 642-654
-
-
Qian, X.1
-
21
-
-
0031043507
-
Mutation in Sos1 dominantly enhances a weak allele of the EGFR, demonstrating a requirement for Sos1 in EGFR signaling and development
-
Wang, D.Z. et al. Mutation in Sos1 dominantly enhances a weak allele of the EGFR, demonstrating a requirement for Sos1 in EGFR signaling and development. Genes Dev. 11, 309-320 (1997).
-
(1997)
Genes Dev
, vol.11
, pp. 309-320
-
-
Wang, D.Z.1
-
22
-
-
0034697962
-
The EGF receptor provides an essential survival signal for SOS-dependent skin tumor development
-
Sibilia, M. et al. The EGF receptor provides an essential survival signal for SOS-dependent skin tumor development. Cell 102, 211-220 (2000).
-
(2000)
Cell
, vol.102
, pp. 211-220
-
-
Sibilia, M.1
-
23
-
-
0032493812
-
Increasing complexity of the Ras signaling pathway
-
Vojtek, A.B. & Der, C.J. Increasing complexity of the Ras signaling pathway. J. Biol. Chem. 273, 19925-19928 (1998).
-
(1998)
J. Biol. Chem
, vol.273
, pp. 19925-19928
-
-
Vojtek, A.B.1
Der, C.J.2
-
24
-
-
0032559211
-
Coupling of Ras and Rac guanosine triphosphatases through the Ras exchanger Sos
-
Nimnual, A.S., Yatsula, B.A. & Bar-Sagi, D. Coupling of Ras and Rac guanosine triphosphatases through the Ras exchanger Sos. Science 279, 560-563 (1998).
-
(1998)
Science
, vol.279
, pp. 560-563
-
-
Nimnual, A.S.1
Yatsula, B.A.2
Bar-Sagi, D.3
-
25
-
-
0026627960
-
Identification of murine homologues of the Drosophila son of sevenless gene: Potential activators of ras
-
Bowtell, D., Fu, P., Simon, M. & Senior, P. Identification of murine homologues of the Drosophila son of sevenless gene: potential activators of ras. Proc. Natl. Acad. Sci. USA 89, 6511-6515 (1992).
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 6511-6515
-
-
Bowtell, D.1
Fu, P.2
Simon, M.3
Senior, P.4
-
26
-
-
0029132697
-
Differential interactions of human Sos1 and Sos2 with Grb2
-
Yang, S.S., Van Aelst, L. & Bar-Sagi, D. Differential interactions of human Sos1 and Sos2 with Grb2. J. Biol. Chem. 270, 18212-18215 (1995).
-
(1995)
J. Biol. Chem
, vol.270
, pp. 18212-18215
-
-
Yang, S.S.1
Van Aelst, L.2
Bar-Sagi, D.3
-
27
-
-
0036842950
-
Detecting polymorphisms and mutations in candidate genes
-
Collins, J.S. & Schwartz, C.E. Detecting polymorphisms and mutations in candidate genes. Am. J. Hum. Genet. 71, 1251-1252 (2002).
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 1251-1252
-
-
Collins, J.S.1
Schwartz, C.E.2
-
28
-
-
0026564576
-
A clinical study of Noonan syndrome
-
Sharland, M., Burch, M., McKenna, W.M. & Paton, M.A. A clinical study of Noonan syndrome. Arch. Dis. Child. 67, 178-183 (1992).
-
(1992)
Arch. Dis. Child
, vol.67
, pp. 178-183
-
-
Sharland, M.1
Burch, M.2
McKenna, W.M.3
Paton, M.A.4
|