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Items: 1 to 20 of 200

1.

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
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 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.

4.

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
5.

[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.
8.

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Gripp KW, Lin AE.

Genet Med. 2012 Mar;14(3):285-92. doi: 10.1038/gim.0b013e31822dd91f. Review.

PMID:
22261753
9.

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
10.

Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.

Allanson JE.

Am J Med Genet A. 2016 Oct;170(10):2570-7. doi: 10.1002/ajmg.a.37736. Epub 2016 May 7.

PMID:
27155212
11.

Malignancy in Noonan syndrome and related disorders.

Smpokou P, Zand DJ, Rosenbaum KN, Summar ML.

Clin Genet. 2015 Dec;88(6):516-22. doi: 10.1111/cge.12568. Epub 2015 Mar 4. Review.

PMID:
25683281
12.

Autism traits in the RASopathies.

Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA.

J Med Genet. 2014 Jan;51(1):10-20. doi: 10.1136/jmedgenet-2013-101951. Epub 2013 Oct 7.

13.

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
14.

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.

Hum Mutat. 2008 Aug;29(8):992-1006. doi: 10.1002/humu.20748. Review.

PMID:
18470943
15.

[Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome].

Laux D, Bajolle F, Maltret A, Bonnet D.

Arch Pediatr. 2011 Oct;18(10):1087-9. doi: 10.1016/j.arcped.2011.07.010. Epub 2011 Aug 31. French.

PMID:
21885263
16.

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
17.

[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
18.

Costello syndrome and related disorders.

Quezada E, Gripp KW.

Curr Opin Pediatr. 2007 Dec;19(6):636-44.

PMID:
18025929
19.

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

Tidyman WE, Rauen KA.

Curr Opin Genet Dev. 2009 Jun;19(3):230-6. doi: 10.1016/j.gde.2009.04.001. Epub 2009 May 19. Review.

20.

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y.

Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20.

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