|
1
|
Nora JJ, Nora AH, Sinha AK, Spangler RD
and Lubs HA: The Ullrich-Noonan syndrome (Turner phenotype). Am J
Dis Child. 127:48–55. 1974.PubMed/NCBI
|
|
2
|
Bader-Meunier B, Tchernia G, Miélot F, et
al: Occurrence of myeloproliferative disorder in patients with
Noonan syndrome. J Pediatr. 130:885–889. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Fukuda M, Horibe K, Miyajima Y, Matsumoto
K and Nagashima M: Spontaneous remission of juvenile chronic
myelomonocytic leukemia in an infant with Noonan syndrome. J
Pediatr Hematol Oncol. 19:177–179. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Choong K, Freedman MH, Chitayat D, Kelly
EN, Taylor G and Zipursky A: Juvenile myelomonocytic leukemia and
Noonan syndrome. J Pediatr Hematol Oncol. 21:523–527. 1999.
View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Kratz CP, Niemeyer CM, Castleberry RP, et
al: The mutational spectrum of PTPN11 in juvenile myelomonocytic
leukemia and Noonan syndrome/myeloproliferative disease. Blood.
106:2183–2185. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Bastida P, García-Miñaúr S, Ezquieta B,
Dapena JL and Sanchez de Toledo J: Myeloproliferative disorder in
Noonan syndrome. J Pediatr Hematol Oncol. 33:e43–e45. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Emanuel PD, Bates LJ, Zhu SW, Castleberry
RP, Gualtieri RJ and Zuckerman KS: Selective hypersensitivity to
granulocyte-macrophage colony-stimulating factor by juvenile
chronic myeloid leukemia hematopoietic progenitors. Blood.
77:925–929. 1991.
|
|
8
|
Hasle H, Niemeyer CM, Chessells JM,
Baumann I, Bennett JM, Kerndrup G and Head DR: A pediatric approach
to the WHO classification of myelodysplastic and myeloproliferative
diseases. Leukemia. 17:277–282. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Tartaglia M, Mehler EL, Goldberg R, et al:
Mutations in PTPN11, encoding the protein tyrosine phospatase
SHP-2, cause Noonan syndrome. Nat Genet. 29:465–468. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Tartaglia M, Kalidas K, Shaw A, et al:
PTPN11 mutations in Noonan syndrome: molecular spectrum,
genotype-phenotype correlation, and phenotypic heterogeneity. Am J
Hum Genet. 70:1555–1563. 2002. View
Article : Google Scholar : PubMed/NCBI
|
|
11
|
Schubbert S, Zenker M, Rowe SL, et al:
Germline KRAS mutations cause Noonan syndrome. Nat Genet.
38:331–336. 2006. View
Article : Google Scholar : PubMed/NCBI
|
|
12
|
Razzaque MA, Nishizawa T, Komoike Y, et
al: Germline gain-of-function mutations in RAF1 cause Noonan
syndrome. Nat Genet. 39:1013–1017. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Roberts AE, Araki T, Swanson KD, et al:
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Nat Genet. 39:70–74. 2007. View
Article : Google Scholar : PubMed/NCBI
|
|
14
|
Tartaglia M, Pennacchio LA, Zhao C, et al:
Gain-of-function SOS1 mutations cause a distinctive form of Noonan
syndrome. Nat Genet. 39:75–79. 2007. View
Article : Google Scholar : PubMed/NCBI
|
|
15
|
Ferrero GB, Baldassarre G, Delmonaco AG,
et al: Clinical and molecular characterization of 40 patients with
Noonan syndrome. Eur J Med Genet. 51:566–572. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Cordeddu V, Di Schiavi E, Pennacchio LA,
et al: Mutation of SHOC2 promotes aberrant protein N-myristoylation
and causes Noonan-like syndrome with loose anagen hair. Nat Genet.
41:1022–1026. 2009. View
Article : Google Scholar : PubMed/NCBI
|
|
17
|
Sarkozy A, Carta C, Moretti S, et al:
Germline BRAF mutations in Noonan, LEOPARD, and
cardiofaciocutaneous syndromes: molecular diversity and associated
phenotypic spectrum. Hum Mutat. 30:695–702. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Cirstea IC, Kutsche K, Dvorsky R, et al: A
restricted spectrum of NRAS mutations causes Noonan syndrome. Nat
Genet. 42:27–29. 2010. View
Article : Google Scholar : PubMed/NCBI
|
|
19
|
Martinelli S, De Luca A, Stellacci E, et
al: Heterozygous germline mutations in the CBL tumor-suppressor
gene cause a Noonan syndrome-like phenotype. Am J Hum Genet.
87:250–257. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Alonso A, Sasin J, Bottini N, et al:
Protein tyrosine phosphatases in the human genome. Cell.
117:699–711. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Andersen JN, Jansen PG, Echwald SM, et al:
A genomic perspective on protein tyrosine phosphatases: gene
structure, pseudogenes, and genetic disease linkage. FASEB J.
18:8–30. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Chen B, Bronson RT, Klaman LD, et al: Mice
mutant for Egfr and Shp-2 have defective cardiac semilunar
valvulogenesis. Nat Genet. 24:296–299. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Qu CK, Yu WM, Azzarelli B, Cooper S,
Broxmeyer HE and Feng GS: Biased suppression of hematopoiesis and
multiple developmental defects in chimeric mice containing Shp-2
mutant cells. Mol Cell Biol. 18:6075–6082. 1998.PubMed/NCBI
|
|
24
|
Saxton TM, Henkemeyer M, Gasca S, et al:
Abnormal mesoderm patterning in mouse embryos mutant for the SH2
tyrosine phosphatase Shp-2. EMBO J. 16:2352–2364. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Timeus F, Crescenzio N, Doria A, et al:
Flow cytometric evaluation of circulating CD34+cell
counts and apoptotic rate in children with acquired aplastic anemia
and myelodysplasia. Exp Hematol. 33:597–604. 2005.PubMed/NCBI
|
|
26
|
Sutherland DR, Anderson L, Keeney M, Nayar
R and Chin-Yee I: The ISHAGE guidelines for CD34+cell
determination by flow cytometry. International Society of
Hematotherapy and Graft Engineering. J Hematother. 5:213–226. 1996.
View Article : Google Scholar
|
|
27
|
Lavin VA, Hamid R, Patterson J, Alford C,
Ho R and Yang E: Use of human androgen receptor gene analysis to
aid the diagnosis of JMML in female Noonan syndrome patients.
Pediatr Blood Cancer. 51:298–302. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Schubbert S, Lieuw K, Rowe SL, et al:
Functional analysis of leukaemia-associated PTPN11 mutations in
primary haematopoietic cells. Blood. 106:311–317. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Jongmans M, Sistermans EA, Rikken A, et
al: Genotypic and phenotypic characterization of Noonan syndrome:
new data and review of the literature. Am J Med Genet A.
134A:165–170. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Barosi G, Viarengo G, Pecci A, Rosti V,
Piaggio G, Marchetti M and Frassoni F: Diagnostic and clinical
relevance of the number of circulating CD34(+) cells in
myelofibrosis with myeloid metaplasia. Blood. 98:3249–3255. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Sullivan SA, Marsden KA, Lowenthal RM,
Jupe DM and Jones ME: Circulating CD34+cells: an adverse
prognostic factor in the myelodysplastic syndromes. Am J Haematol.
39:96–101. 1992.
|
