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Results: 1 to 20 of 323

Related Citations for PubMed (Select 18331608)

1.

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

Ferreira LV, Souza SC, Montenegro LR, Malaquias AC, Arnhold IJ, Mendonca BB, Jorge AA.

Clin Endocrinol (Oxf). 2008 Sep;69(3):426-31. doi: 10.1111/j.1365-2265.2008.03234.x. Epub 2008 Mar 10.

PMID:
18331608
2.

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

Ferreira LV, Souza SA, Montenegro LR, Arnhold IJ, Pasqualini T, Heinrich JJ, Keselman AC, Mendonça BB, Jorge AA.

Arq Bras Endocrinol Metabol. 2007 Apr;51(3):450-6. Portuguese.

3.

Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.

Noordam C, Peer PG, Francois I, De Schepper J, van den Burgt I, Otten BJ.

Eur J Endocrinol. 2008 Sep;159(3):203-8. doi: 10.1530/EJE-08-0413. Epub 2008 Jun 18.

4.

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

Brasil AS, Pereira AC, Wanderley LT, Kim CA, Malaquias AC, Jorge AA, Krieger JE, Bertola DR.

Genet Test Mol Biomarkers. 2010 Jun;14(3):425-32. doi: 10.1089/gtmb.2009.0192.

PMID:
20578946
5.

[Noonan syndrome: from phenotype to growth hormone therapy].

Malaquias AC, Ferreira LV, Souza SC, Arnhold IJ, Mendonça BB, Jorge AA.

Arq Bras Endocrinol Metabol. 2008 Jul;52(5):800-8. Review. Portuguese.

6.

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

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.

Am J Hum Genet. 2002 Jun;70(6):1555-63. Epub 2002 May 1.

7.

Genotype-phenotype correlations in Noonan syndrome.

Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A.

J Pediatr. 2004 Mar;144(3):368-74.

PMID:
15001945
8.

Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.

Hung CS, Lin JL, Lee YJ, Lin SP, Chao MC, Lo FS.

J Formos Med Assoc. 2007 Feb;106(2):169-72.

PMID:
17339163
9.

Response to growth hormone in short children with Noonan syndrome: correlation to genotype.

Binder G.

Horm Res. 2009 Dec;72 Suppl 2:52-6. doi: 10.1159/000243781. Epub 2009 Dec 22.

PMID:
20029239
10.

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

Papadopoulou A, Issakidis M, Gole E, Kosma K, Fryssira H, Fretzayas A, Nicolaidou P, Kitsiou-Tzeli S.

Eur J Pediatr. 2012 Jan;171(1):51-8. doi: 10.1007/s00431-011-1487-5. Epub 2011 May 18.

PMID:
21590266
11.

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

Ko JM, Kim JM, Kim GH, Yoo HW.

J Hum Genet. 2008;53(11-12):999-1006. doi: 10.1007/s10038-008-0343-6. Epub 2008 Nov 20.

PMID:
19020799
12.

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

Bertola DR, Pereira AC, de Oliveira PS, Kim CA, Krieger JE.

Am J Med Genet A. 2004 Nov 1;130A(4):378-83.

PMID:
15384080
13.

High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.

Lo FS, Luo JD, Lee YJ, Shu SG, Kuo MT, Chiou CC.

Clin Chim Acta. 2009 Nov;409(1-2):75-7. doi: 10.1016/j.cca.2009.08.021. Epub 2009 Sep 6. Erratum in: Clin Chim Acta. 2010 Feb;411(3-4):297.

PMID:
19737548
14.

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE.

Genet Test. 2006 Fall;10(3):186-91.

PMID:
17020470
16.

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B.

Am J Hum Genet. 2002 Aug;71(2):389-94. Epub 2002 Jun 7.

17.

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

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.

J Hum Genet. 2005;50(4):192-202. Epub 2005 Apr 15.

PMID:
15834506
18.

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.

Essawi ML, Ismail MF, Afifi HH, Kobesiy MM, El Kotoury A, Barakat MM.

J Formos Med Assoc. 2013 Nov;112(11):707-12. doi: 10.1016/j.jfma.2012.06.002. Epub 2012 Aug 1.

PMID:
24183200
19.

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.

Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cavé H, Verloes A.

Pediatrics. 2007 Jun;119(6):e1325-31. Epub 2007 May 21.

20.

Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.

Mutesa L, Pierquin G, Janin N, Segers K, Thomée C, Provenzi M, Bours V.

Cancer Genet Cytogenet. 2008 Apr 1;182(1):40-2. doi: 10.1016/j.cancergencyto.2007.12.005.

PMID:
18328949
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