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References
|
Ahmad S, Banville D, Zhao Z, Fischer EH, Shen SH (1993). A widely expressed human protein-tyrosine phosphatase containing src homology 2 domains. Proc. Natl. Acad. Sci. U S A 90:2197-2201. Crossref |
||||
|
Bertola DR, Pereira AC, de Oliveira PS, Kim CA, Krieger JE (2004). Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. Am. J. Med. Genet. A 130A:378-383. Crossref |
||||
|
Chan RJ, Feng GS (2007). PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase. Blood 109:862-867. Crossref |
||||
|
Chen PC, Wakimoto H, Conner D, Araki T, Yuan T, Roberts A, Seidman C, Bronson R, Neel B, Seidman JG, Kucherlapati R (2010). Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome-associated Sos1 mutation. J. Clin. Investig. 120:4353-4365. Crossref |
||||
|
Elalaoui SC, Kraoua L, Liger C, Ratbi I, Cave H, Sefiani A (2010). Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents. Am. J. Med. Genet. A. 152A:2850-2853. Crossref |
||||
|
Hall T (1997). BioEdit Software. In Biosciences (ed.): An Abbott company. Carlsbad. Crossref |
||||
|
Hung CS, Lin JL, Lee YJ, Lin SP, Chao MC, Lo FS (2007). Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. J. Formos. Med. Assoc. 106:169-172. Crossref |
||||
|
Jamieson CR, van der Burgt I, Brady AF, Van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E (1994). Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat. Genet. 8:357-360. Crossref |
||||
| Keren B (2006). Syndrome de Noonan et mutations du gène PTPN11 : corrélation génotype-phénotype, Thèse Université PARIS VAL-DE-MARNE Faculté de Médecine de Créteil, Paris. | ||||
|
Lapinski PE, Meyer MF, Feng GS, Kamiya N, King PD (2013). Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice. Dis. Model. Mech. 6:1448-1458. Crossref |
||||
|
Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B (1999). Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J. Pediatr. 135:703-706. Crossref |
||||
|
Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM (2003). Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur. J. Hum. Genet. 11:201-206. Crossref |
||||
|
Nakamura T, Colbert M, Krenz M, Molkentin JD, Hahn HS, Dorn GW, 2nd, Robbins J (2007). Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. J. Clin. Invest. 117:2123-2132. Crossref |
||||
|
Nakamura T, Gulick J, Pratt R, Robbins J (2009). Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations. Proc. Natl. Acad. Sci. USA. 106:15436-15441. Crossref |
||||
|
Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y (2005). Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. J. Hum. Genet. 50:192-202. Crossref |
||||
|
Noonan JA (1968). Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am. J. Dis. Child. 116:373-80. Crossref |
||||
|
Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim IK, Ying H, Weber U, Perkins LA, Tartaglia M, Mlodzik M, Pick L, Gelb BD (2006). Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. Hum. Mol. Genet. 15:543-553. Crossref |
||||
|
Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS (2009). Genotype differences in cognitive functioning in Noonan syndrome. Genes. Brain. Behav. 8:275-282. Crossref |
||||
|
Ratbi I, Gati AE, Sefiani A (2008). The Moroccan human mutation database. Indian. J. Hum. Genet. 14:106-107. |
||||
|
Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013). Noonan syndrome. Lancet 381:333-342. Crossref |
||||
| Sznajer Y (2009). Etude des manifestations cardiovasculaires chez les patients présentant un syndrome de Noonan porteurs de mutation au sein du gène PTPN11; rôles des gènes de la voie de signalisation des MAP kinases pour les syndromes apparentés, Thèse Université Libre de Bruxelles, Bruxelles. | ||||
|
Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cave H, Verloes A (2007). The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene Pediatrics 119:e1325-1e331. |
||||
|
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 (2002). PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am. J. Hum. Genet. 70:1555-1563. Crossref |
||||
|
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 (2006). Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am. J. Hum. Genet. 78:279-290. Crossref |
||||
|
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, Van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD (2001). Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29:465-468. Crossref |
||||
|
Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H, Licht JD, and Gelb BD (2003). Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat. Genet. 34:148-150. Crossref |
||||
|
Uhlen P, Burch PM, Zito CI, Estrada M, Ehrlich BE, Bennett AM (2006). Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling. Proc. Natl. Acad. Sci. USA. 103:2160-2165. Crossref |
||||
|
van der Burgt I (2007). Noonan syndrome. Orphanet J. Rare Dis. 2:4. Not cited Crossref |
||||
|
van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E (1994). Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am. J. Med. Genet. 53:187-191. Crossref |
||||
|
Van der Burgt I, Kupsky W, Stassou S, Nadroo A, Barroso C, Diem A, Kratz CP, Dvorsky R, Ahmadian MR, Zenker M (2007). Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. J. Med. Genet. 44:459-462. Crossref |
||||
|
Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, Kanegane H, Ohyama K, Onishi T, Hanew K, Okuyama T, Horikawa R, Tanaka T, Ogata T (2004). Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J. Clin. Endocrinol. Metab. 89:3359-3364 Crossref |
||||
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