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Results: 20

1.

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.

PMID:
16825433
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Cardiofaciocutaneous Syndrome.

Rauen KA.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2007 Jan 18 [updated 2012 Sep 06].

3.

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

Siegel DH, McKenzie J, Frieden IJ, Rauen KA.

Br J Dermatol. 2011 Mar;164(3):521-9. doi: 10.1111/j.1365-2133.2010.10122.x. Epub 2011 Jan 28.

PMID:
21062266
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Cardiofaciocutaneous syndrome: a rare entity.

Pavithra S, Mallya H, Pai GS.

Indian J Dermatol. 2012 Jul;57(4):299-301. doi: 10.4103/0019-5154.97677.

PMID:
22837569
[PubMed]
Free PMC Article
5.

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Rauen KA, Seidenberg MS.

Am J Med Genet A. 2010 Mar;152A(3):591-600. doi: 10.1002/ajmg.a.33268.

PMID:
20186801
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

Aeby A, Sznajer Y, Cavé H, Rebuffat E, Van Coster R, Rigal O, Van Bogaert P.

J Inherit Metab Dis. 2007 Oct;30(5):827. Epub 2007 Aug 20.

PMID:
17703371
[PubMed - indexed for MEDLINE]
7.

Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.

Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y.

J Pediatr Hematol Oncol. 2011 Dec;33(8):e342-6. doi: 10.1097/MPH.0b013e3181df5e5b.

PMID:
20523244
[PubMed - indexed for MEDLINE]
8.

Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature.

Weiss G, Confino Y, Shemer A, Trau H.

J Eur Acad Dermatol Venereol. 2004 May;18(3):324-7. Review.

PMID:
15096145
[PubMed - indexed for MEDLINE]
9.

Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation.

Linden HC, Price SM.

Clin Dysmorphol. 2011 Apr;20(2):86-8. doi: 10.1097/MCD.0b013e32833ff29d. No abstract available.

PMID:
21178588
[PubMed - indexed for MEDLINE]
10.

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.

Manci EA, Martinez JE, Horenstein MG, Gardner TM, Ahmed A, Mancao MC, Gremse DA, Gardner DM, Nimityongskul P, Maertens P, Riddick L, Kavamura MI.

Am J Med Genet A. 2005 Aug 15;137(1):1-8.

PMID:
16007634
[PubMed - indexed for MEDLINE]
11.

CFC index for the diagnosis of cardiofaciocutaneous syndrome.

Kavamura MI, Peres CA, Alchorne MM, Brunoni D.

Am J Med Genet. 2002 Sep 15;112(1):12-6. Review.

PMID:
12239713
[PubMed - indexed for MEDLINE]
12.

Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome.

Yildirim SV, Kale-Cekinmez E, Ozcan D, Derbent M.

Turk J Pediatr. 2008 May-Jun;50(3):275-7.

PMID:
18773675
[PubMed - indexed for MEDLINE]
Free Article
13.

Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome.

Jeffries ML, Aleck KA, Bernert RA, Hansen RC.

Pediatr Dermatol. 2010 May-Jun;27(3):274-8. doi: 10.1111/j.1525-1470.2009.00982.x. Epub 2009 Oct 4.

PMID:
19804494
[PubMed - indexed for MEDLINE]
14.

The cardiofaciocutaneous syndrome: prenatal findings in two patients.

Witters I, Denayer E, Brems H, Fryns JP, Legius E.

Prenat Diagn. 2008 Jan;28(1):53-5. No abstract available.

PMID:
18022830
[PubMed - indexed for MEDLINE]
15.

Peripheral neuropathy in cardiofaciocutaneous syndrome.

DeRoos ST, Ryan MM, Ouvrier RA.

Pediatr Neurol. 2007 Apr;36(4):250-2.

PMID:
17437909
[PubMed - indexed for MEDLINE]
16.

Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients.

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

Am J Med Genet A. 2003 Jun 1;119A(2):177-9.

PMID:
12749059
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Cardiofaciocutaneous (CFC) syndrome.

Schepis C, Greco D, Romano C.

Australas J Dermatol. 1999 May;40(2):111-3.

PMID:
10333626
[PubMed - indexed for MEDLINE]
19.

Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts.

Terao M, Sakai N, Higashiyama S, Kotobuki Y, Tanemura A, Wataya-Kaneda M, Yutsudo M, Ozono K, Katayama I.

Br J Dermatol. 2010 Oct;163(4):881-4. doi: 10.1111/j.1365-2133.2010.09875.x. No abstract available.

PMID:
20518782
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
12529707
[PubMed - indexed for MEDLINE]
Free Article
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