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Items: 1 to 20 of 256

1.

Genetic and pathogenetic aspects of Noonan syndrome and related disorders.

Zenker M.

Horm Res. 2009 Dec;72 Suppl 2:57-63. doi: 10.1159/000243782. Epub 2009 Dec 22. Review.

PMID:
20029240
2.

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

Tidyman WE, Rauen KA.

Expert Rev Mol Med. 2008 Dec 9;10:e37. doi: 10.1017/S1462399408000902. Review.

PMID:
19063751
3.

Noonan syndrome and clinically related disorders.

Tartaglia M, Gelb BD, Zenker M.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Review.

4.

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.

Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31. English, Spanish.

PMID:
22465605
5.

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.

Am J Med Genet A. 2017 Sep;173(9):2346-2352. doi: 10.1002/ajmg.a.38337. Epub 2017 Jun 26.

PMID:
28650561
6.

[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].

Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE.

Tidsskr Nor Laegeforen. 2009 Nov 19;129(22):2358-61. doi: 10.4045/tidsskr.09.0267. Norwegian.

7.

Clinical and molecular analysis of RASopathies in a group of Turkish patients.

Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K.

Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9.

PMID:
22420426
8.

Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.

Cizmarova M, Kostalova L, Pribilincova Z, Lasabova Z, Hlavata A, Kovacs L, Ilencikova D.

Endocr Regul. 2013 Oct;47(4):217-22. Review.

PMID:
24156711
9.

Deregulated Ras signaling in developmental disorders: new tricks for an old dog.

Schubbert S, Bollag G, Shannon K.

Curr Opin Genet Dev. 2007 Feb;17(1):15-22. Review.

PMID:
17208427
10.

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.

Tumurkhuu M, Saitoh M, Sato A, Takahashi K, Mimaki M, Takita J, Takeshita K, Hama T, Oka A, Mizuguchi M.

Pediatr Int. 2010 Aug;52(4):557-62. doi: 10.1111/j.1442-200X.2009.03020.x.

PMID:
20030748
11.

Clinical manifestations of mutations in RAS and related intracellular signal transduction factors.

Zenker M.

Curr Opin Pediatr. 2011 Aug;23(4):443-51. doi: 10.1097/MOP.0b013e32834881dd. Review.

PMID:
21750428
13.

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E.

Eur J Hum Genet. 2011 Feb;19(2):138-44. doi: 10.1038/ejhg.2010.171. Epub 2010 Nov 10.

14.

[New findings in Noonan syndrome and Leopard syndrome: activating mutations in RAF-1 and SOS-1].

Dereure O.

Ann Dermatol Venereol. 2008 Aug-Sep;135(8-9):624-5. doi: 10.1016/j.annder.2008.06.002. Epub 2008 Aug 8. French. No abstract available.

PMID:
18789305
15.

[Molecular genetics of congenital anomaly syndromes (RAS/MAPK syndromes) complicated with malignancies].

Aoki Y, Matsubara Y.

Rinsho Ketsueki. 2010 Jul;51(7):532-8. Review. Japanese. No abstract available.

PMID:
20693773
16.

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB.

Horm Res. 2009;71(4):185-93. doi: 10.1159/000201106. Epub 2009 Mar 4. Review.

17.

Noonan syndrome: introduction and basic clinical features.

Rohrer T.

Horm Res. 2009 Dec;72 Suppl 2:3-7. doi: 10.1159/000243772. Epub 2009 Dec 22.

PMID:
20029230
18.

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):83-9. doi: 10.1002/ajmg.c.30300. Epub 2011 Apr 15.

19.

Noonan syndrome and related disorders: alterations in growth and puberty.

Noonan JA.

Rev Endocr Metab Disord. 2006 Dec;7(4):251-5. Review.

20.

Abnormal growth in noonan syndrome: the challenge of optimal therapy.

Savage MO, Padidela R, Kirk JM, Malaquias AC, Jorge AA.

Pediatr Endocrinol Rev. 2009 Jun;6 Suppl 4:523-8. Review.

PMID:
19550387

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