-
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
-
-
0016016012
-
The Ullrich-Noonan syndrome (Turner phenotype)
-
Nora, J.J., Nora, A.H., Sinha, A.K., Spangler, R.D. & Lubs, H.A. The Ullrich-Noonan syndrome (Turner phenotype). Am. J. Dis. Child. 127, 48-55 (1974).
-
(1974)
Am. J. Dis. Child.
, vol.127
, pp. 48-55
-
-
Nora, J.J.1
Nora, A.H.2
Sinha, A.K.3
Spangler, R.D.4
Lubs, H.A.5
-
3
-
-
0023133725
-
Noonan syndrome
-
Allanson, J.E. Noonan syndrome. J. Med. Genet. 24, 9-13 (1987).
-
(1987)
J. Med. Genet.
, vol.24
, pp. 9-13
-
-
Allanson, J.E.1
-
4
-
-
0027993959
-
Noonan syndrome. An update and review for the primary pediatrician
-
Noonan, J.A. Noonan syndrome. An update and review for the primary pediatrician. Clin. Pediatr. (Phila.) 33, 548-555 (1994).
-
(1994)
Clin. Pediatr. (Phila.)
, vol.33
, pp. 548-555
-
-
Noonan, J.A.1
-
5
-
-
0033498871
-
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal
-
Marino, B., Digilio, M.C., Toscano, A., Giannotti, A. & Dallapiccola, B. Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J. Pediatr. 135, 703-706 (1999).
-
(1999)
J. Pediatr.
, vol.135
, pp. 703-706
-
-
Marino, B.1
Digilio, M.C.2
Toscano, A.3
Giannotti, A.4
Dallapiccola, B.5
-
6
-
-
0028861057
-
Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction
-
Marino, B. et al. Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction. Eur. J. Pediatr. 154, 949-952 (1995).
-
(1995)
Eur. J. Pediatr.
, vol.154
, pp. 949-952
-
-
Marino, B.1
-
7
-
-
0031790484
-
Noonan syndrome and aortic coarctation
-
Digilio, M.C. et al. Noonan syndrome and aortic coarctation. Am. J. Med. Genet. 80, 160-162 (1998).
-
(1998)
Am. J. Med. Genet.
, vol.80
, pp. 160-162
-
-
Digilio, M.C.1
-
8
-
-
0034322058
-
Cardiac findings in 31 patients with Noonan's syndrome
-
Bertola, D.R. et al. Cardiac findings in 31 patients with Noonan's syndrome. Arq. Bras. Cardiol. 75, 409-412 (2000).
-
(2000)
Arq. Bras. Cardiol.
, vol.75
, pp. 409-412
-
-
Bertola, D.R.1
-
9
-
-
0030712155
-
Occurrence of myeloproliferative disorder in patients with Noonan syndrome
-
Bader-Meunier, B. et al. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J. Pediatr. 130, 885-889 (1997).
-
(1997)
J. Pediatr.
, vol.130
, pp. 885-889
-
-
Bader-Meunier, B.1
-
10
-
-
0028882007
-
Noonan's syndrome in association with acute leukemia
-
Johannes, J.M., Garcia, E.R., De Vaan, G.A. & Weening, R.S. Noonan's syndrome in association with acute leukemia. Pediatr. Hematol. Oncol. 12, 571-575 (1995).
-
(1995)
Pediatr. Hematol. Oncol.
, vol.12
, pp. 571-575
-
-
Johannes, J.M.1
Garcia, E.R.2
De Vaan, G.A.3
Weening, R.S.4
-
11
-
-
0030665934
-
Myeloid disorders in infants with Noonan syndrome and a resident's "rule" recalled
-
Side, L.E. & Shannon, K.M. Myeloid disorders in infants with Noonan syndrome and a resident's "rule" recalled. J. Pediatr. 130, 857-859 (1997).
-
(1997)
J. Pediatr.
, vol.130
, pp. 857-859
-
-
Side, L.E.1
Shannon, K.M.2
-
12
-
-
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
-
13
-
-
18544388673
-
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome
-
Kosaki, K. et al. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J. Clin. Endocrinol. Metab. 87, 3529-3533 (2002).
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 3529-3533
-
-
Kosaki, K.1
-
14
-
-
18644381881
-
PTPN11 mutations in Noonan syndrome type I: Detection of recurrent mutations in exons 3 and 13
-
Maheshwari, M. et al. PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum. Mutat. 20, 298-304 (2002).
-
(2002)
Hum. Mutat.
, vol.20
, pp. 298-304
-
-
Maheshwari, M.1
-
15
-
-
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
-
16
-
-
0038771965
-
The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling
-
Neel, B.G., Gu, H. & Pao, L. The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem. Sci. 28, 284-293 (2003).
-
(2003)
Trends Biochem. Sci.
, vol.28
, pp. 284-293
-
-
Neel, B.G.1
Gu, H.2
Pao, L.3
-
17
-
-
0142211311
-
Tyrosyl phosphorylation of Shp2 is required for normal ERK activation in response to some, but not all, growth factors
-
Araki, T., Nawa, H. & Neel, B.G. Tyrosyl phosphorylation of Shp2 is required for normal ERK activation in response to some, but not all, growth factors. J. Biol. Chem. 278, 41677-41684 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 41677-41684
-
-
Araki, T.1
Nawa, H.2
Neel, B.G.3
-
18
-
-
0032521428
-
Revealing mechanisms for SH2 domain mediated regulation of the protein tyrosine phosphatase SHP-2
-
Barford, D. & Neel, B.G. Revealing mechanisms for SH2 domain mediated regulation of the protein tyrosine phosphatase SHP-2. Structure 6, 249-254 (1998).
-
(1998)
Structure
, vol.6
, pp. 249-254
-
-
Barford, D.1
Neel, B.G.2
-
19
-
-
0032548830
-
Crystal structure of the tyrosine phosphatase SHP-2
-
Hof, P., Pluskey, S., Dhe-Paganon, S., Eck, M.J. & Shoelson, S.E. Crystal structure of the tyrosine phosphatase SHP-2. Cell 92, 441-450 (1998).
-
(1998)
Cell
, vol.92
, pp. 441-450
-
-
Hof, P.1
Pluskey, S.2
Dhe-Paganon, S.3
Eck, M.J.4
Shoelson, S.E.5
-
20
-
-
0033989423
-
Activated mutants of SHP-2 preferentially induce elongation of Xenopus animal caps
-
O'Reilly, A.M., Pluskey, S., Shoelson, S.E. & Neel, B.G. Activated mutants of SHP-2 preferentially induce elongation of Xenopus animal caps. Mol. Cell. Biol. 20, 299-311 (2000).
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 299-311
-
-
O'Reilly, A.M.1
Pluskey, S.2
Shoelson, S.E.3
Neel, B.G.4
-
21
-
-
0038278866
-
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
-
Tartaglia, M. et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat. Genet. 34, 148-150 (2003).
-
(2003)
Nat. Genet.
, vol.34
, pp. 148-150
-
-
Tartaglia, M.1
-
22
-
-
0346789710
-
Somatic mutations in PTPN11 implicate the protein tyrosine phosphatase SHP-2 in leukemo genesis
-
Loh, M.L. et al. Somatic mutations in PTPN11 implicate the protein tyrosine phosphatase SHP-2 in leukemogenesis. Blood 103, 2325-2331 (2003).
-
(2003)
Blood
, vol.103
, pp. 2325-2331
-
-
Loh, M.L.1
-
23
-
-
3142620903
-
Genetic evidence for lineage- and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia
-
Tartaglia, M. et al. Genetic evidence for lineage- and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood 104, 307-313 (2004).
-
(2004)
Blood
, vol.104
, pp. 307-313
-
-
Tartaglia, M.1
-
24
-
-
0037300995
-
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardiofacio-cutaneous syndrome
-
Musante, L. et al. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardiofacio-cutaneous syndrome. Eur. J. Hum. Genet. 11, 201-206 (2003).
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 201-206
-
-
Musante, L.1
-
25
-
-
0037229065
-
Nf1 has an essential role in endothelial cells
-
Gitler, A.D. et al. Nf1 has an essential role in endothelial cells. Nat. Genet. 33, 75-79 (2003).
-
(2003)
Nat. Genet.
, vol.33
, pp. 75-79
-
-
Gitler, A.D.1
-
26
-
-
0026073598
-
Noonan's syndrome: Abnormalities of the growth hormone/IGF-I axis and the response to treatment with human biosynthetic growth hormone
-
Ahmed, M.L. et al. Noonan's syndrome: abnormalities of the growth hormone/IGF-I axis and the response to treatment with human biosynthetic growth hormone. Acta Paediatr. Scand. 80, 446-450 (1991).
-
(1991)
Acta Paediatr. Scand.
, vol.80
, pp. 446-450
-
-
Ahmed, M.L.1
-
27
-
-
0028307836
-
Tumour predisposition in mice heterozygous for a targeted mutation in Nf1
-
Jacks, T. et al. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat. Genet. 7, 353-361 (1994).
-
(1994)
Nat. Genet.
, vol.7
, pp. 353-361
-
-
Jacks, T.1
-
28
-
-
0028349997
-
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues
-
Brannan, C.I. et al. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev. 8, 1019-1029 (1994).
-
(1994)
Genes Dev.
, vol.8
, pp. 1019-1029
-
-
Brannan, C.I.1
-
29
-
-
0031647555
-
Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart
-
Lakkis, M.M. & Epstein, J.A. Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart. Development 125, 4359-4367 (1998).
-
(1998)
Development
, vol.125
, pp. 4359-4367
-
-
Lakkis, M.M.1
Epstein, J.A.2
-
30
-
-
0030456861
-
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association
-
Bahuau, M. et al. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome- neurofibromatosis association. Am. J. Med. Genet. 66, 347-355 (1996).
-
(1996)
Am. J. Med. Genet.
, vol.66
, pp. 347-355
-
-
Bahuau, M.1
-
31
-
-
0035479143
-
Developing models of DiGeorge syndrome
-
Epstein, J.A. Developing models of DiGeorge syndrome. Trends Genet. 17, S13-S17 (2001).
-
(2001)
Trends Genet.
, vol.17
-
-
Epstein, J.A.1
-
32
-
-
0042329925
-
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
-
Sarkozy, A. et al. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J. Med. Genet. 40, 704-708 (2003).
-
(2003)
J. Med. Genet.
, vol.40
, pp. 704-708
-
-
Sarkozy, A.1
-
33
-
-
0345743699
-
Somatic activation of oncogenic Kras in hematopoietic cells initiates a rapidly fatal myeloproliferative disorder
-
Braun, B.S. et al. Somatic activation of oncogenic Kras in hematopoietic cells initiates a rapidly fatal myeloproliferative disorder. Proc. Natl Acad. Sci. USA 101, 597-602 (2004).
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 597-602
-
-
Braun, B.S.1
-
34
-
-
85047690606
-
Conditional expression of oncogenic K-ras from its endogenous promoter induces a myeloproliferative disease
-
Chan, I.T. et al. Conditional expression of oncogenic K-ras from its endogenous promoter induces a myeloproliferative disease. J. Clin. Invest. 113, 528-538 (2004).
-
(2004)
J. Clin. Invest.
, vol.113
, pp. 528-538
-
-
Chan, I.T.1
-
35
-
-
0032497573
-
Hematopoiesis: Progenitors and their genetic program
-
Dieterlen-Lievre, F. Hematopoiesis: progenitors and their genetic program. Curr. Biol. 8, R727-R730 (1998).
-
(1998)
Curr. Biol.
, vol.8
-
-
Dieterlen-Lievre, F.1
-
36
-
-
1642489095
-
Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemia
-
Gitler, A.D. et al. Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemia. Pediatr. Res. 55, 581-584 (2004).
-
(2004)
Pediatr. Res.
, vol.55
, pp. 581-584
-
-
Gitler, A.D.1
-
37
-
-
0027415509
-
The triple origin of skull in higher vertebrates: A study in quail-chick chimeras
-
Couly, G.F., Colley, P.M. & Le Douarin, N.M. The triple origin of skull in higher vertebrates: a study in quail-chick chimeras. Development 117, 409-429 (1993).
-
(1993)
Development
, vol.117
, pp. 409-429
-
-
Couly, G.F.1
Colley, P.M.2
Le Douarin, N.M.3
-
38
-
-
0029828103
-
Rhombencephalic neural crest segmentation is preserved throughout craniofacial ontogeny
-
Koniges, G. & Lumsden, A. Rhombencephalic neural crest segmentation is preserved throughout craniofacial ontogeny. Development 122, 3229-3242 (1996).
-
(1996)
Development
, vol.122
, pp. 3229-3242
-
-
Koniges, G.1
Lumsden, A.2
-
39
-
-
0345601083
-
Met, metastasis, motility and more
-
Birchmeier, C., Birchmeier, W., Gherardi, E. & Vande Woude, G.F. Met, metastasis, motility and more. Nat. Rev. Mol. Cell Biol. 4, 915-925 (2003).
-
(2003)
Nat. Rev. Mol. Cell Biol.
, vol.4
, pp. 915-925
-
-
Birchmeier, C.1
Birchmeier, W.2
Gherardi, E.3
Vande Woude, G.F.4
-
40
-
-
0036234459
-
Missing pieces in the NF-κB puzzle
-
Ghosh, S. & Karin, M. Missing pieces in the NF-κB puzzle. Cell 109, S81-S96 (2002).
-
(2002)
Cell
, vol.109
-
-
Ghosh, S.1
Karin, M.2
-
41
-
-
0346725939
-
Distinct domains in the SHP-2 prosphatase differentially regulate epidermal growth factor receptor/NF-κB activation through Gab1 in glioblastoma cells
-
Kapoor, G.S., Zhan, Y., Johnson, G.R. & O'Rourke, D.M. Distinct domains in the SHP-2 prosphatase differentially regulate epidermal growth factor receptor/NF-κB activation through Gab1 in glioblastoma cells. Mol. Cell. Biol. 24, 823-836 (2004).
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 823-836
-
-
Kapoor, G.S.1
Zhan, Y.2
Johnson, G.R.3
O'Rourke, D.M.4
-
42
-
-
0035176070
-
Modulation of the nuclear factor kappa B pathway by Shp-2 tyrosine phosphatase in mediating the induction of interleukin (IL)-6 by IL-1 or tumor necrosis factor
-
You, M., Flick, L.M., Yu, D. & Feng, G.S. Modulation of the nuclear factor kappa B pathway by Shp-2 tyrosine phosphatase in mediating the induction of interleukin (IL)-6 by IL-1 or tumor necrosis factor. J. Exp. Med. 193, 101-110 (2001).
-
(2001)
J. Exp. Med.
, vol.193
, pp. 101-110
-
-
You, M.1
Flick, L.M.2
Yu, D.3
Feng, G.S.4
-
43
-
-
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
-
44
-
-
11144356354
-
G12D stimulates proliferation and widespread neoplastic and developmental defects
-
G12D stimulates proliferation and widespread neoplastic and developmental defects. Cancer Cell 5, 375-387 (2004).
-
(2004)
Cancer Cell
, vol.5
, pp. 375-387
-
-
Tuveson, D.A.1
-
45
-
-
0033624921
-
Role of Gab1 in heart, placenta, and skin development and growth factor- and cytokine-induced extracellular signal-regulated kinase mitogen-activated protein kinase activation
-
Itoh, M. et al. Role of Gab1 in heart, placenta, and skin development and growth factor- and cytokine-induced extracellular signal-regulated kinase mitogen-activated protein kinase activation. Mol. Cell. Biol. 20, 3695-3704 (2000).
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 3695-3704
-
-
Itoh, M.1
-
46
-
-
0037320925
-
Ezh2 controls B cell development through histone H3 methylation and Igh rearrangement
-
Su, I.H. et al. Ezh2 controls B cell development through histone H3 methylation and Igh rearrangement. Nat. Immunol. 4, 124-131 (2003).
-
(2003)
Nat. Immunol.
, vol.4
, pp. 124-131
-
-
Su, I.H.1
-
47
-
-
10744223870
-
Shp2 regulates SRC family kinase activity and Ras/Erk activation by controlling Csk recruitment
-
Zhang, S.Q. et al. Shp2 regulates SRC family kinase activity and Ras/Erk activation by controlling Csk recruitment. Mol. Cell 13, 341-355 (2004).
-
(2004)
Mol. Cell
, vol.13
, pp. 341-355
-
-
Zhang, S.Q.1
-
48
-
-
0033942614
-
Increased energy expenditure, decreased adiposity, and tissue-specific insulin sensitivity in protein-tyrosine phosphatase 1B-deficient mice
-
Klaman, L.D. et al. Increased energy expenditure, decreased adiposity, and tissue-specific insulin sensitivity in protein-tyrosine phosphatase 1B-deficient mice. Mol. Cell. Biol. 20, 5479-5489 (2000).
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 5479-5489
-
-
Klaman, L.D.1
-
49
-
-
0142074405
-
Spatial and temporal patterns of ERK signaling during mouse embryo genesis
-
Corson, L.B., Yamanaka, Y., Lai, K.M. & Rossant, J. Spatial and temporal patterns of ERK signaling during mouse embryogenesis. Development 130, 4527-4537 (2003).
-
(2003)
Development
, vol.130
, pp. 4527-4537
-
-
Corson, L.B.1
Yamanaka, Y.2
Lai, K.M.3
Rossant, J.4
-
50
-
-
19044372472
-
Critical role for Gab2 in transformation by BCR/ABL
-
Sattler, M. et al. Critical role for Gab2 in transformation by BCR/ABL. Cancer Cell 1, 479-492 (2002).
-
(2002)
Cancer Cell
, vol.1
, pp. 479-492
-
-
Sattler, M.1
|