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Items: 1 to 20 of 165

1.

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome.

Tröger B, Kutsche K, Bolz H, Lüttgen S, Gal A, Almassy Z, Caliebe A, Freisinger P, Hobbiebrunken E, Morlot M, Stefanova M, Streubel B, Wieczorek D, Meinecke P.

Am J Med Genet A. 2003 Aug 15;121A(1):82-4. No abstract available.

PMID:
12900909
2.
3.

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B.

J Med Genet. 2003 Sep;40(9):704-8. No abstract available.

4.

Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.

Jafarov T, Ferimazova N, Reichenberger E.

Clin Genet. 2005 Aug;68(2):190-1. No abstract available.

PMID:
15996221
5.

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
6.

PTPN11 mutations in LEOPARD syndrome.

Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP.

J Med Genet. 2002 Aug;39(8):571-4.

7.

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.

8.

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E.

Eur J Hum Genet. 2003 Jan;11(1):85-8.

10.

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

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.

Eur J Hum Genet. 2003 Feb;11(2):201-6. Erratum in: Eur J Hum Genet. 2003 Jul;11(7):551.

11.

[Noonan syndrome and Leopard syndrome linked to mutation of the gene PTPN11].

Dereure O.

Ann Dermatol Venereol. 2005 Apr;132(4):400. French. No abstract available.

PMID:
15886577
12.

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

Kavamura MI, Pomponi MG, Zollino M, Lecce R, Murdolo M, Brunoni D, Alchorne MM, Opitz JM, Neri G.

Eur J Hum Genet. 2003 Jan;11(1):64-8.

13.

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.

Sarkozy A, Lepri F, Marino B, Pizzuti A, Digilio MC, Dallapiccola B.

Am J Med Genet A. 2006 Sep 15;140(18):1970-2. No abstract available.

PMID:
16892325
14.

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
15.

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.

Ogata T, Yoshida R.

Pediatr Endocrinol Rev. 2005 Jun;2(4):669-74. Review.

PMID:
16208280
16.

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.

PMID:
17515436
17.

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

Digilio MC, Sarkozy A, Pacileo G, Limongelli G, Marino B, Dallapiccola B.

Eur J Pediatr. 2006 Nov;165(11):803-5. Epub 2006 May 30.

PMID:
16733669
18.

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R.

Hum Mutat. 2002 Oct;20(4):298-304.

PMID:
12325025
19.

Mutation analysis of PTPN11 in Noonan syndrome by WAVE.

Elanko N, Jeffery S.

Methods Mol Med. 2006;126:97-111.

PMID:
16930008
20.

[Noonan's syndrome caused by a mutation in the PTPN11 gene].

Lloreda-García JM, Martínez-Aedo MJ, Tarttaglia M, López-Siguero JP.

An Pediatr (Barc). 2006 Dec;65(6):635-6. Spanish. No abstract available.

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