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Results: 1-16 |
Results: 16
A new type of pachyonychia congenita
Authors: van Steensel, MAM Smith, FJD Steijlen, PM
Citation: Mam. Van Steensel et al., A new type of pachyonychia congenita, EUR J DERM, 11(3), 2001, pp. 188-190
Novel keratin 17 mutations in pachyonychia congenita type 2
Authors: Smith, FJD Coleman, CM Bayoumy, NM Tenconi, R Nelson, J David, A McLean, WHI
Citation: Fjd. Smith et al., Novel keratin 17 mutations in pachyonychia congenita type 2, J INVES DER, 116(5), 2001, pp. 806-808
Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans
Authors: Porter, RM Corden, LD Lunny, DP Smith, FJD Lane, EB McLean, WHI
Citation: Rm. Porter et al., Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans, BR J DERM, 145(4), 2001, pp. 558-568
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16
Authors: Connors, JB Rahil, AK Smith, FJD McLean, WHI Milstone, LM
Citation: Jb. Connors et al., Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16, BR J DERM, 144(5), 2001, pp. 1058-1062
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma
Authors: Smith, FJD Fisher, MP Healy, E Rees, JL Bonifas, JM Epstein, EH Tan, EML Uitto, J McLean, WHI
Citation: Fjd. Smith et al., Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma, EXP DERMATO, 9(3), 2000, pp. 170-177
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosaof Siemens
Authors: Irvine, AD Smith, FJD Shum, KW Williams, HC McLean, WHI
Citation: Ad. Irvine et al., A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosaof Siemens, CLIN EXP D, 25(8), 2000, pp. 648-651
A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus
Authors: Terrinoni, A Puddu, P Didona, B De Laurenzi, V Candi, E Smith, FJD McLean, WHI Melino, G
Citation: A. Terrinoni et al., A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus, J INVES DER, 114(6), 2000, pp. 1136-1140
Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene
Authors: Corden, LD Swensson, O Swensson, B Smith, FJD Rochels, R Uitto, J McLean, WHI
Citation: Ld. Corden et al., Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene, EXP EYE RES, 70(1), 2000, pp. 41-49
A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1
Authors: Smith, FJD McKenna, KE Irvine, AD Bingham, EA Coleman, CM Uitto, J McLean, WHI
Citation: Fjd. Smith et al., A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1, EXP DERMATO, 8(2), 1999, pp. 109-114
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1
Authors: Smith, FJD McKusick, VA Nielsen, K Pfendner, E Uitto, J McLean, WHI
Citation: Fjd. Smith et al., Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1, PRENAT DIAG, 19(10), 1999, pp. 941-946
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1
Authors: Smith, FJD Del Monaco, M Steijlen, PM Munro, CS Morvay, M Coleman, CM Rietveld, FJR Uitto, J McLean, WH
Citation: Fjd. Smith et al., Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1, BR J DERM, 141(6), 1999, pp. 1010-1016
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature
Authors: Basarab, T Smith, FJD Jolliffe, VML McLean, WHI Neill, S Rustin, MHA Eady, RAJ
Citation: T. Basarab et al., Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature, BR J DERM, 140(4), 1999, pp. 689-695
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif
Authors: Coleman, CM Munro, CS Smith, FJD Uitto, J McLean, WHI
Citation: Cm. Coleman et al., Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif, BR J DERM, 140(3), 1999, pp. 486-490
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
Authors: Coleman, CM Hannush, S Covello, SP Smith, FJD Uitto, J McLean, WHI
Citation: Cm. Coleman et al., A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy, AM J OPHTH, 128(6), 1999, pp. 687-691
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing
Authors: van Steensel, M Smith, FJD Steijlen, PM Kluijt, I Stevens, HP Messenger, A Kremer, H Dunnill, MGS Kennedy, C Munro, CS Doherty, VR McGrath, JA Covello, SP Coleman, CM Uitto, J McLean, WHI
Citation: M. Van Steensel et al., The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing, AM J HU GEN, 65(2), 1999, pp. 413-419
Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland
Authors: Covello, SP Irvine, AD McKenna, KE Munro, CS Nevin, NC Smith, FJD Uitto, J McLean, WHI
Citation: Sp. Covello et al., Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland, J INVES DER, 111(6), 1998, pp. 1207-1209
Risultati: 1-16 |