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Items: 15

1.

Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.

Shuja Z, Li L, Gupta S, Meşe G, White TW.

J Invest Dermatol. 2016 Jan;136(1):225-35. doi: 10.1038/JID.2015.389.

2.

Identification of a recurrent mitochondrial mutation in a Japanese family with palmoplantar keratoderma, nail dystrophy, and deafness.

Hayashi R, Fujiwara H, Morishita M, Ito M, Shimomura Y.

Eur J Dermatol. 2015 Jan-Feb;25(1):79-81. doi: 10.1684/ejd.2014.2461. No abstract available.

PMID:
25513986
3.

R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.

Jiang SJ, Di ZH, Huang D, Zhang JB, Zhang YY, Li SQ, He R.

Int J Pediatr Otorhinolaryngol. 2014 Sep;78(9):1461-6. doi: 10.1016/j.ijporl.2014.06.008.

PMID:
24975403
4.

Connecting with connexins.

Williams P, Memon A, Sinha T, Fryer A.

Australas J Dermatol. 2013 Nov;54(4):287-9. doi: 10.1111/ajd.12070.

PMID:
23808595
5.

Case of palmoplantar keratoderma with sensorineural deafness and mental retardation that may be another variant of syndromic palmoplantar keratoderma.

Utsumi D, Hanashiro F, Miyagi T, Yamamoto Y, Uezato H, Takahashi K.

J Dermatol. 2013 Jul;40(7):579-80. doi: 10.1111/1346-8138.12156. No abstract available.

PMID:
23594229
6.

A case of palmoplantar lichen planus in a patient with congenital sensorineural deafness.

Ogawa A, Shimizu K, Yoshizaki A, Sato S, Kanda Y, Kumagami H, Takahashi H, Usami S.

Clin Exp Dermatol. 2013 Jan;38(1):30-2. doi: 10.1111/j.1365-2230.2012.04374.x.

PMID:
22924538
7.

A new variant of Vohwinkel syndrome: a case report.

Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F.

Dermatol Online J. 2011 Mar 15;17(3):3.

8.

Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.

Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC.

J Korean Med Sci. 2010 Oct;25(10):1539-42. doi: 10.3346/jkms.2010.25.10.1539.

9.

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
10.

Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations.

Serrano Castro PJ, Naranjo Fernandez C, Quiroga Subirana P, Payan Ortiz M.

Seizure. 2010 Mar;19(2):129-31. doi: 10.1016/j.seizure.2009.11.009.

11.

Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.

Nemoto-Hasebe I, Akiyama M, Kudo S, Ishiko A, Tanaka A, Arita K, Shimizu H.

Br J Dermatol. 2009 Aug;161(2):452-5. doi: 10.1111/j.1365-2133.2009.09137.x.

PMID:
19416251
12.

Hereditary palmoplantar keratodermas.

Braun-Falco M.

J Dtsch Dermatol Ges. 2009 Nov;7(11):971-84; quiz 984-5. doi: 10.1111/j.1610-0387.2009.07058.x. English, German.

PMID:
19341430
13.

A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.

de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van Steensel MA.

Am J Pathol. 2008 Oct;173(4):1113-9. doi: 10.2353/ajpath.2008.080049.

14.

Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.

Kelly B, Lozano A, Altenberg G, Makishima T.

Int J Dermatol. 2008 May;47(5):443-7. doi: 10.1111/j.1365-4632.2008.03603.x.

PMID:
18412859
15.

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.

de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA.

J Med Genet. 2008 Mar;45(3):161-6.

PMID:
17993581
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