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Results: 1 to 20 of 95

Similar articles for PubMed (Select 21178588)

1.

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
2.

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
3.

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
4.

Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.

Tubaigy SM, Hassan HM.

J Forensic Sci. 2014 Mar;59(2):555-8. doi: 10.1111/1556-4029.12316. Epub 2013 Nov 21. Review.

PMID:
24261749
5.

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
6.

A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.

Sekiguchi K, Maeda T, Suenobu S, Kunisaki N, Shimizu M, Kiyota K, Handa YS, Akiyoshi K, Korematsu S, Aoki Y, Matsubara Y, Izumi T.

Am J Med Genet A. 2013 Oct;161A(10):2600-3. doi: 10.1002/ajmg.a.36107. Epub 2013 Aug 15.

PMID:
23950000
7.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA.

Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2.

8.

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP.

J Invest Dermatol. 2013 Feb;133(2):571-3. doi: 10.1038/jid.2012.289. Epub 2012 Aug 30. No abstract available.

9.

MEK genomics in development and disease.

Bromberg-White JL, Andersen NJ, Duesbery NS.

Brief Funct Genomics. 2012 Jul;11(4):300-10. doi: 10.1093/bfgp/els022. Epub 2012 Jun 29. Review.

10.

[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
11.

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):129-35. doi: 10.1002/ajmg.c.30295. Epub 2011 Apr 14.

12.

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
13.

[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
14.

Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.

Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G.

Clin Genet. 2011 Jan;79(1):92-5. doi: 10.1111/j.1399-0004.2010.01513.x. No abstract available.

PMID:
21143469
15.

Gene symbol: MAP2K1. Disease: Cardio-Facio-Cutaneous syndrome.

Cave H.

Hum Genet. 2008 Jun;123(5):551. No abstract available.

PMID:
20960644
16.

Gene symbol: MAP2K2. Disease: Cardio-Facio-Cutaneous syndrome.

Hanna N, Parfait B.

Hum Genet. 2008 Jun;123(5):543. No abstract available.

PMID:
20960621
17.

Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans.

Montesu MA, Castori M, Masala MV, Lissia A, Cottoni F.

Eur J Dermatol. 2010 Nov-Dec;20(6):850-2. doi: 10.1684/ejd.2010.1113. Epub 2010 Oct 20. No abstract available.

PMID:
20959277
18.

Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.

Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.

Am J Med Genet A. 2010 Jul;152A(7):1798-802. doi: 10.1002/ajmg.a.33464.

PMID:
20583176
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
20.

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.

Nagy N, Wedgeworth E, Hamada T, White JM, Hashimoto T, McGrath JA.

J Dermatol Sci. 2010 Jun;58(3):220-2. doi: 10.1016/j.jdermsci.2010.03.012. Epub 2010 Mar 23. No abstract available.

PMID:
20418069
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