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Items: 1 to 20 of 39

1.

An adult case of cardiofaciocutaneous syndrome with BRAF mutation.

Sato S, Hida T, Okura M, Ishikawa A, Yamashita T.

Eur J Dermatol. 2017 May 19. doi: 10.1684/ejd.2017.3017. [Epub ahead of print] No abstract available.

PMID:
28524057
2.

Cardiofaciocutaneous syndrome and the dermatologist's contribution to diagnosis.

Rocha VB, Moraes RA, Pereira LB.

Cutis. 2017 Jan;99(1):E4-E7. No abstract available.

PMID:
28207016
3.

Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder.

Seth S, Biswas T, Biswas B, Roy A, Datta AK.

J Clin Diagn Res. 2016 Nov;10(11):SD01-SD02. doi: 10.7860/JCDR/2016/21586.8811. Epub 2016 Nov 1.

4.

Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment.

Hatori T, Sugiyama Y, Yamashita S, Hirakubo Y, Nonaka K, Ichihashi K.

J Nippon Med Sch. 2016;83(4):167-71. doi: 10.1272/jnms.83.167.

5.

Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.

Pierpont EI, Wolford M.

Am J Med Genet A. 2016 Aug;170(8):1974-88. doi: 10.1002/ajmg.a.37725. Epub 2016 May 5.

PMID:
27149079
6.

Cardiofaciocutaneous Syndrome.

Rauen KA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Jan 18 [updated 2016 Mar 3].

7.

Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.

Cabrera S, Morel C, Tartaglia MC.

Am J Med Genet A. 2016 May;170A(5):1251-6. doi: 10.1002/ajmg.a.37552. Epub 2016 Feb 3.

PMID:
26842671
8.

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.

Joyce S, Gordon K, Brice G, Ostergaard P, Nagaraja R, Short J, Moore S, Mortimer P, Mansour S.

Eur J Hum Genet. 2016 May;24(5):690-6. doi: 10.1038/ejhg.2015.175. Epub 2015 Aug 5.

9.

Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome.

Anderson S, Brooks SS.

Adv Neonatal Care. 2015 Aug;15(4):274-84. doi: 10.1097/ANC.0000000000000210.

PMID:
26225596
10.

Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome.

Lam H, Dare S, Nguyen T, Austin T.

A A Case Rep. 2015 Apr 1;4(7):95-6. doi: 10.1213/XAA.0000000000000129.

PMID:
25827862
11.

Clinicopathologic evaluation of cardiofaciocutaneous syndrome: overcoming the challenges of diagnosing a rare genodermatosis.

Bryan ZT, Missall TA, Stieren S, Siegfried E, Burkemper NM.

Pediatr Dermatol. 2015 Jan-Feb;32(1):e23-8. doi: 10.1111/pde.12494. Epub 2014 Dec 16.

PMID:
25514835
12.

Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.

Karaer K, Lissewski C, Zenker M.

Am J Med Genet A. 2015 Feb;167A(2):385-8. doi: 10.1002/ajmg.a.36429. Epub 2014 Dec 8.

PMID:
25487361
13.

Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome.

Johnson B, Goldberg-Strassler D, Gripp K, Thacker M, Leoni C, Stevenson D.

Am J Med Genet A. 2015 Jan;167A(1):40-4. doi: 10.1002/ajmg.a.36828. Epub 2014 Oct 24.

PMID:
25346259
14.

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L.

Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Review.

PMID:
25250515
15.

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B.

Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4. Spanish.

PMID:
25194980
16.

The perinatal presentation of cardiofaciocutaneous syndrome.

Wong Ramsey KN, Loichinger MH, Slavin TP, Kuo S, Seaver LH.

Am J Med Genet A. 2014 Aug;164A(8):2036-42. doi: 10.1002/ajmg.a.36558. Epub 2014 Apr 9.

PMID:
24719372
17.

Cardiofaciocutaneous syndrome.

Thergaonkar RW, Bhat V.

Med J Armed Forces India. 2013 Apr;69(2):175-7. doi: 10.1016/j.mjafi.2012.08.001. Epub 2012 Oct 23. No abstract available.

18.

Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.

Terry J, Rauen KA, Nowaczyk MJ.

Pediatr Dev Pathol. 2014 Jan-Feb;17(1):59-63. doi: 10.2350/13-08-1365-CR.1. Epub 2013 Dec 4.

PMID:
24303953
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.

My memories of Professor Giovanni Neri: the cardiofaciocutaneous syndrome (CFC).

Kavamura MI.

Am J Med Genet A. 2013 Nov;161A(11):2707-9. doi: 10.1002/ajmg.a.36263. No abstract available.

PMID:
24166813

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