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Items: 1 to 20 of 91

1.

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.

Smpokou P, Tworog-Dube E, Kucherlapati RS, Roberts AE.

Am J Med Genet A. 2012 Dec;158A(12):3106-11. doi: 10.1002/ajmg.a.35639. Epub 2012 Nov 19.

PMID:
23165751
2.

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.

3.

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML.

Am J Med Genet A. 2011 Jun;155A(6):1217-24. doi: 10.1002/ajmg.a.33987. Epub 2011 May 5.

PMID:
21548061
4.

Noonan syndrome.

van der Burgt I.

Orphanet J Rare Dis. 2007 Jan 14;2:4. Review.

6.

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW.

J Pediatr. 2011 Dec;159(6):1029-35. doi: 10.1016/j.jpeds.2011.05.024. Epub 2011 Jul 23.

PMID:
21784453
7.

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.

Malaquias AC, Brasil AS, Pereira AC, Arnhold IJ, Mendonca BB, Bertola DR, Jorge AA.

Am J Med Genet A. 2012 Nov;158A(11):2700-6. doi: 10.1002/ajmg.a.35519. Epub 2012 Aug 6.

PMID:
22887833
8.

Prenatal features of Noonan syndrome: prevalence and prognostic value.

Baldassarre G, Mussa A, Dotta A, Banaudi E, Forzano S, Marinosci A, Rossi C, Tartaglia M, Silengo M, Ferrero GB.

Prenat Diagn. 2011 Oct;31(10):949-54. doi: 10.1002/pd.2804. Epub 2011 Jul 11.

PMID:
21744363
9.

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
10.

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

Ejarque I, Millán-Salvador JM, Oltra S, Pesudo-Martínez JV, Beneyto M, Pérez-Aytés A.

Rev Neurol. 2015 May 1;60(9):408-12. Review. Spanish.

PMID:
25912702
11.

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
12.

[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.

13.

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

Fabretto A, Kutsche K, Harmsen MB, Demarini S, Gasparini P, Fertz MC, Zenker M.

Eur J Med Genet. 2010 Sep-Oct;53(5):322-4. doi: 10.1016/j.ejmg.2010.07.011. Epub 2010 Jul 29.

PMID:
20673819
14.

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC.

Eur J Med Genet. 2008 Nov-Dec;51(6):566-72. doi: 10.1016/j.ejmg.2008.06.011. Epub 2008 Jul 17.

PMID:
18678287
15.

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

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

Arq Bras Endocrinol Metabol. 2010 Nov;54(8):717-22.

16.

[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].

Gos M, Leszkiewicz M, Abramowicz A.

Postepy Biochem. 2012;58(3):255-64. Review. Polish.

PMID:
23373411
17.

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA.

Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. Review.

PMID:
20876176
18.

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
19.

[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.

20.

Bleeding diathesis in Noonan syndrome: is acquired von Willebrand syndrome the clue?

Wiegand G, Hofbeck M, Zenker M, Budde U, Rauch R.

Thromb Res. 2012 Nov;130(5):e251-4. doi: 10.1016/j.thromres.2012.08.314. Epub 2012 Sep 15.

PMID:
22985731

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