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Results: 1 to 20 of 23

Related Articles by Review for PubMed (Select 18042262)

1.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.

Clin Genet. 2008 Jan;73(1):62-70. Epub 2007 Nov 27.

PMID:
18042262
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.

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
4.

Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.

Adachi M, Abe Y, Aoki Y, Matsubara Y.

Seizure. 2012 Jan;21(1):55-60. doi: 10.1016/j.seizure.2011.07.013. Epub 2011 Aug 25. Review.

5.

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.

Papadopoulou E, Sifakis S, Sol-Church K, Klein-Zighelboim E, Stabley DL, Raissaki M, Gripp KW, Kalmanti M.

Am J Med Genet A. 2011 Mar;155A(3):605-11. doi: 10.1002/ajmg.a.33787. Epub 2011 Feb 18. Review.

PMID:
21337689
6.

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
7.

[Human development and the RAS/MAPK pathway].

Aoki Y, Matsubara Y.

Seikagaku. 2007 Jan;79(1):34-8. Review. Japanese. No abstract available.

PMID:
17319511
8.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S.

Hum Genet. 2002 Oct;111(4-5):421-7. Epub 2002 Aug 24. Review.

PMID:
12384786
9.

The cardiofaciocutaneous syndrome.

Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G.

J Med Genet. 2006 Nov;43(11):833-42. Epub 2006 Jul 6. Review.

10.

Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.

Lo FS, Lin JL, Kuo MT, Chiu PC, Shu SG, Chao MC, Lee YJ, Lin SP.

Eur J Pediatr. 2009 Aug;168(8):919-23. doi: 10.1007/s00431-008-0858-z. Epub 2008 Oct 29. Review.

PMID:
18958496
11.

Ras/MAPK syndromes and childhood hemato-oncological diseases.

Aoki Y, Matsubara Y.

Int J Hematol. 2013 Jan;97(1):30-6. doi: 10.1007/s12185-012-1239-y. Epub 2012 Dec 19. Review.

PMID:
23250860
12.

An unexpected new role of mutant Ras: perturbation of human embryonic development.

Kratz CP, Niemeyer CM, Zenker M.

J Mol Med (Berl). 2007 Mar;85(3):227-35. Epub 2007 Jan 9. Review.

13.

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA.

Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Review.

PMID:
25180280
14.

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.

Wright EM, Kerr B.

Arch Dis Child. 2010 Sep;95(9):724-30. doi: 10.1136/adc.2009.160069. Epub 2010 Apr 6. Review.

PMID:
20371595
15.
16.

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
17.

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

Noonan JA.

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

18.

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
19.

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.

Morice-Picard F, Ezzedine K, Delrue MA, Arveiler B, Fergelot P, Taïeb A, Lacombe D, Boralevi F.

Pediatr Dermatol. 2013 Nov-Dec;30(6):665-73. doi: 10.1111/pde.12171. Review.

PMID:
24283439
20.

What's new in the neuro-cardio-facial-cutaneous syndromes?

Denayer E, Legius E.

Eur J Pediatr. 2007 Nov;166(11):1091-8. Epub 2007 Jul 5. Review.

PMID:
17611774
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