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Results: 1 to 20 of 95

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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]
4.

Orthopaedic conditions in Ras/MAPK related disorders.

Reinker KA, Stevenson DA, Tsung A.

J Pediatr Orthop. 2011 Jul-Aug;31(5):599-605. doi: 10.1097/BPO.0b013e318220396e.

PMID:
21654472
[PubMed - indexed for MEDLINE]
5.

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
6.

A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy.

Wakusawa K, Kobayashi S, Abe Y, Tanaka S, Endo W, Inui T, Iwaki M, Watanabe S, Togashi N, Nara T, Niihori T, Aoki Y, Haginoya K.

Brain Dev. 2014 Jan;36(1):61-3. doi: 10.1016/j.braindev.2012.12.007. Epub 2013 Jan 20.

PMID:
23340054
[PubMed - indexed for MEDLINE]
7.

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]
8.

[Neuro-cardio-facial-cutaneous syndrome].

Bessis D.

Ann Dermatol Venereol. 2011 Jun-Jul;138(6-7):483-93. doi: 10.1016/j.annder.2011.02.029. Epub 2011 May 5. French.

PMID:
21700069
[PubMed - indexed for MEDLINE]
9.

Ulerythema ophryogenes: updates and insights.

Morton CM, Bhate C, Janniger CK, Schwartz RA.

Cutis. 2014 Feb;93(2):83-7.

PMID:
24605344
[PubMed - indexed for MEDLINE]
10.

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.

Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan.

Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11.

PMID:
22495831
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

What syndrome is this? Cardio-facio-cutaneous (CFC) syndrome.

Drolet BA, Baselga E, Esterly NB.

Pediatr Dermatol. 2000 May-Jun;17(3):231-4. No abstract available.

PMID:
10886760
[PubMed - indexed for MEDLINE]
13.

Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.

Urosevic J, Sauzeau V, Soto-Montenegro ML, Reig S, Desco M, Wright EM, Cañamero M, Mulero F, Ortega S, Bustelo XR, Barbacid M.

Proc Natl Acad Sci U S A. 2011 Mar 22;108(12):5015-20. doi: 10.1073/pnas.1016933108. Epub 2011 Mar 7.

PMID:
21383153
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[A new "rasopathy": mutation in the CBL tumour-suppressor gene in neuro-cardio-facio-cutaneous syndrome similar to Noonan syndrome].

Dereure O.

Ann Dermatol Venereol. 2011 Jan;138(1):75-6. doi: 10.1016/j.annder.2010.11.003. Epub 2010 Dec 18. French. No abstract available.

PMID:
21276471
[PubMed - indexed for MEDLINE]
15.

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]
16.

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
[PubMed - indexed for MEDLINE]
17.

Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish.

Anastasaki C, Rauen KA, Patton EE.

Dis Model Mech. 2012 Jul;5(4):546-52. doi: 10.1242/dmm.008672. Epub 2012 Feb 2.

PMID:
22301711
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mutational and functional analysis in human Ras/MAP kinase genetic syndromes.

Tidyman WE, Rauen KA.

Methods Mol Biol. 2010;661:433-47. doi: 10.1007/978-1-60761-795-2_27.

PMID:
20812000
[PubMed - indexed for MEDLINE]
19.

Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.

Tidyman WE, Lee HS, Rauen KA.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):104-14. doi: 10.1002/ajmg.c.30298. Epub 2011 Apr 14.

PMID:
21495178
[PubMed - indexed for MEDLINE]
20.

CFC syndrome: report on three additional cases.

Sorge G, Di Forti F, Scarano G, Ventruto V, Zelante L, Dallapiccola B.

Am J Med Genet. 1989 Aug;33(4):476-8.

PMID:
2596507
[PubMed - indexed for MEDLINE]
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