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Noonan syndrome.

van der Burgt I.

Orphanet J Rare Dis. 2007 Jan 14;2:4. Review.PMID: 17222357 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts]

Klapecki J, Obersztyn E, Laniewski-Wollk M, Szpecht-Potocka A, Mazurczak T.

Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):289-308. Review. Polish. PMID: 17028394 [PubMed - indexed for MEDLINE]Related citations

Leopard syndrome.

Sarkozy A, Digilio MC, Dallapiccola B.

Orphanet J Rare Dis. 2008 May 27;3:13. Review.PMID: 18505544 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

LEOPARD syndrome: clinical diagnosis in the first year of life.

Digilio MC, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R, Calabrò R, Marino B, Dallapiccola B.

Am J Med Genet A. 2006 Apr 1;140(7):740-6.PMID: 16523510 [PubMed - indexed for MEDLINE]Related citations

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 [PubMed - indexed for MEDLINE]Related citations

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

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.

Nat Genet. 2001 Dec;29(4):465-8. Erratum in: Nat Genet 2002 Jan;30(1):123. Nat Genet 2001 Dec;29(4):491. PMID: 11704759 [PubMed - indexed for MEDLINE]Related citations

PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.

Binder G, Neuer K, Ranke MB, Wittekindt NE.

J Clin Endocrinol Metab. 2005 Sep;90(9):5377-81. Epub 2005 Jun 28.PMID: 15985475 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

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 [PubMed - indexed for MEDLINE]Related citations

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.PMID: 11992261 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.

Lee ST, Ki CS, Lee HJ.

Clin Genet. 2007 Aug;72(2):150-5.PMID: 17661820 [PubMed - indexed for MEDLINE]Related citations

Noonan syndrome. A review.

Cesur Aydin K, Ozcan I.

Minerva Pediatr. 2008 Jun;60(3):343-6. Review.PMID: 18487980 [PubMed - indexed for MEDLINE]Related citations

Noonan syndrome: introduction and basic clinical features.

Rohrer T.

Horm Res. 2009 Dec;72 Suppl 2:3-7. Epub 2009 Dec 22.PMID: 20029230 [PubMed - indexed for MEDLINE]Related citations

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

Jongmans M, Sistermans EA, Rikken A, Nillesen WM, Tamminga R, Patton M, Maier EM, Tartaglia M, Noordam K, van der Burgt I.

Am J Med Genet A. 2005 Apr 15;134A(2):165-70.PMID: 15723289 [PubMed - indexed for MEDLINE]Related citations

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

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.

J Clin Endocrinol Metab. 2004 Jul;89(7):3359-64.PMID: 15240615 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

The natural history of Noonan syndrome: a long-term follow-up study.

Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA.

Arch Dis Child. 2007 Feb;92(2):128-32. Epub 2006 Sep 21.PMID: 16990350 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

Ferreira LV, Souza SA, Arnhold IJ, Mendonca BB, Jorge AA.

J Clin Endocrinol Metab. 2005 Sep;90(9):5156-60. Epub 2005 Jun 14.PMID: 15956085 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

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 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

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.PMID: 12529711 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

[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. PMID: 17546245 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

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.PMID: 12058348 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations