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| de Zwart-Storm EA, van Geel M, van Neer PA, et al.
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. [Case Reports, Journal Article, Research Support, Non-U.S. Gov't]
Am J Pathol 2008 Oct; 173(4):1113-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | de Zwart-Storm EA, Hamm H, Stoevesandt J, et al.
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. [JOURNAL ARTICLE]
J Med Genet 2007 Nov 12.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Richard G, Brown N, Ishida-Yamamoto A, et al.
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. [Journal Article]
J Invest Dermatol 2004 Nov; 123(5):856-63.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Maestrini E, Korge BP, Ocaña-Sierra J, et al.
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. [Journal Article]
Hum Mol Genet 1999 Jul; 8(7):1237-43.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Rouan F, White TW, Brown N, et al.
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. [Journal Article]
J Cell Sci 2001 Jun; 114(Pt 11):2105-13.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Richard G, Rouan F, Willoughby CE, et al.
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. [Journal Article]
Am J Hum Genet 2002 May; 70(5):1341-8.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Heathcote K, Syrris P, Carter ND, et al.
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). [Case Reports, Journal Article]
J Med Genet 2000 Jan; 37(1):50-1.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Richard G, White TW, Smith LE, et al.
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. [Journal Article]
Hum Genet 1998 Oct; 103(4):393-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Kelsell DP, Wilgoss AL, Richard G, et al.
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. [Corrected and Republished Article, Journal Article, Research Support, Non-U.S. Gov't ]
Eur J Hum Genet 2000 Jun; 8(6):469-72.
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