AAAAAA

   
Results: 1-25 |
Results: 25
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
Authors: Hunt, DM Rickman, L Whittock, NV Eady, RA Simrak, D Dopping-Hepenstal, PJC Stevens, HP Armstrong, DKB Hennies, HC Kuster, W Hughes, AE Arnemann, J Leigh, IM McGrath, JA Kelsell, DP Buxton, RS
Citation: Dm. Hunt et al., Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma, EUR J HUM G, 9(3), 2001, pp. 197-203
Human diseases: clues to cracking the connexin code?
Authors: Kelsell, DP Dunlop, J Hodgins, MB
Citation: Dp. Kelsell et al., Human diseases: clues to cracking the connexin code?, TR CELL BIO, 11(1), 2001, pp. 2-6
Gene expression analysis of EpiDerm (TM) following exposure to SLS using cDNA microarrays
Authors: Fletcher, ST Baker, VA Fentem, JH Basketter, DA Kelsell, DP
Citation: St. Fletcher et al., Gene expression analysis of EpiDerm (TM) following exposure to SLS using cDNA microarrays, TOX VITRO, 15(4-5), 2001, pp. 393-398
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families
Authors: Rickard, S Kelsell, DP Sirimana, T Rajput, K MacArdle, B Bitner-Glindzicz, M
Citation: S. Rickard et al., Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families, J MED GENET, 38(8), 2001, pp. 530-533
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
Authors: Houseman, MJ Ellis, LA Pagnamenta, A Di, WL Rickard, S Osborn, AH Dahl, HHM Taylor, GR Bitner-Glindzicz, M Reardon, W Mueller, RF Kelsell, DP
Citation: Mj. Houseman et al., Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss, J MED GENET, 38(1), 2001, pp. 20-25
Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31
Authors: Di, WL Rugg, EL Leigh, IM Kelsell, DP
Citation: Wl. Di et al., Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31, J INVES DER, 117(4), 2001, pp. 958-964
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds
Authors: Hatsell, SJ Eady, RA Wennerstrand, L Dopping-Hepenstal, P Leigh, IM Munro, C Kelsell, DP
Citation: Sj. Hatsell et al., Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds, J INVES DER, 116(4), 2001, pp. 606-609
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43
Authors: Alam, NA Bevan, S Churchman, M Barclay, E Barker, K Jaeger, EEM Nelson, HM Healy, E Pembroke, AC Friedmann, PS Dalziel, K Calonje, E Anderson, J August, PJ Davies, MG Felix, R Munro, CS Murdoch, M Rendall, J Kennedy, S Leigh, IM Kelsell, DP Tomlinson, IPM Houlston, RS
Citation: Na. Alam et al., Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43, AM J HU GEN, 68(5), 2001, pp. 1264-1269
Connexin mutations in skin disease and hearing loss
Authors: Kelsell, DP Di, WL Houseman, MJ
Citation: Dp. Kelsell et al., Connexin mutations in skin disease and hearing loss, AM J HU GEN, 68(3), 2001, pp. 559-568
Mutations in GJB6 cause hidrotic ectodermal dysplasia
Authors: Lamartine, J Essenfelder, GM Kibar, Z Lanneluc, I Callouet, E Laoudj, D Lemaitre, G Hand, C Hayflick, SJ Zonana, J Antonarakis, S Radhakrishna, U Kelsell, DP Christianson, AL Pitaval, A Der Kaloustian, V Fraser, C Blanchet-Bardon, C Rouleau, GA Waksman, G
Citation: J. Lamartine et al., Mutations in GJB6 cause hidrotic ectodermal dysplasia, NAT GENET, 26(2), 2000, pp. 142-144
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family (vol 8, pg 141, 2000)
Authors: Kelsell, DP Wilgoss, AL Richard, G Stevens, HP Munro, CS Leigh, IM
Citation: Dp. Kelsell et al., Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family (vol 8, pg 141, 2000), EUR J HUM G, 8(6), 2000, pp. 468-A144
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping
Authors: Kibar, Z Dube, MP Powell, J McCuaig, C Hayflick, SJ Zonana, J Hovnanian, A Radhakrishna, U Antonarakis, SE Benohanian, A Sheeran, AD Stephan, ML Gosselin, R Kelsell, DP Christianson, AL Fraser, FC Kaloustian, VMD Rouleau, GA
Citation: Z. Kibar et al., Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping, EUR J HUM G, 8(5), 2000, pp. 372-380
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
Authors: Kelsell, DP Wilgoss, AL Richard, G Stevens, HP Munro, CS Leigh, IM
Citation: Dp. Kelsell et al., Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family, EUR J HUM G, 8(2), 2000, pp. 141-144
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
Authors: Norgett, EE Hatsell, SJ Carvajal-Huerta, L Cabezas, JCR Common, J Purkis, PE Whittock, N Leigh, IM Stevens, HP Kelsell, DP
Citation: Ee. Norgett et al., Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma, HUM MOL GEN, 9(18), 2000, pp. 2761-2766
Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
Authors: Isaacs, AM Davies, KE Hunter, AJ Nolan, PM Vizor, L Peters, J Gale, DG Kelsell, DP Latham, ID Chase, JM Fisher, EMC Bouzyk, MM Potter, A Masih, M Walsh, FS Sims, MA Doncaster, KE Parsons, CA Martin, J Brown, SDM Rastan, S Spurr, NK Gray, IC
Citation: Am. Isaacs et al., Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy, HUM MOL GEN, 9(12), 2000, pp. 1865-1871
Human elastase 1: Evidence for expression in the skin and the identification of a frequent frameshift polymorphism
Authors: Talas, U Dunlop, J Khalaf, S Leigh, IM Kelsell, DP
Citation: U. Talas et al., Human elastase 1: Evidence for expression in the skin and the identification of a frequent frameshift polymorphism, J INVES DER, 114(1), 2000, pp. 165-170
Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer
Authors: Hanby, AM Kelsell, DP Potts, HW Gillett, CE Bishop, DT Spurr, NK Barnes, DM
Citation: Am. Hanby et al., Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer, INT J CANC, 88(2), 2000, pp. 204-208
Wnt-16a, a novel Wnt-16 isoform, which shows differential expression in adult human tissues
Authors: Fear, MW Kelsell, DP Spurr, NK Barnes, MR
Citation: Mw. Fear et al., Wnt-16a, a novel Wnt-16 isoform, which shows differential expression in adult human tissues, BIOC BIOP R, 278(3), 2000, pp. 814-820
Localization of the Netherton syndrome gene to chromosome 5q32, by linkageanalysis and homozygosity mapping
Authors: Chavanas, S Garner, C Bodemer, C Ali, M Hamel-Teillac, D Wilkinson, J Bonafe, JL Paradisi, M Kelsell, DP Ansai, S Mitsuhashi, Y Larregue, M Leigh, IM Harper, JI Taieb, A de Prost, Y Cardon, LR Hovnanian, A
Citation: S. Chavanas et al., Localization of the Netherton syndrome gene to chromosome 5q32, by linkageanalysis and homozygosity mapping, AM J HU GEN, 66(3), 2000, pp. 914-921
The palmoplantar keratodermas: much more than palms and soles
Authors: Kelsell, DP Stevens, HP
Citation: Dp. Kelsell et Hp. Stevens, The palmoplantar keratodermas: much more than palms and soles, MOL MED TOD, 5(3), 1999, pp. 107-113
N-terminal deletion in a desmosomal cadherin causes the autosomal dominantskin disease striate palmoplantar keratoderma
Authors: Rickman, L Simrak, D Stevens, HP Hunt, DM King, IA Bryant, SP Eady, RAJ Leigh, IM Arnemann, J Magee, AI Kelsell, DP Buxton, RS
Citation: L. Rickman et al., N-terminal deletion in a desmosomal cadherin causes the autosomal dominantskin disease striate palmoplantar keratoderma, HUM MOL GEN, 8(6), 1999, pp. 971-976
Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratodermato chromosome 12q11-q13: exclusion of the mapped type II keratins
Authors: Kelsell, DP Stevens, HP Purkis, PE Talas, U Rustin, MHA Leigh, IM
Citation: Dp. Kelsell et al., Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratodermato chromosome 12q11-q13: exclusion of the mapped type II keratins, EXP DERMATO, 8(5), 1999, pp. 388-391
Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): The integration of genetic and physical maps of the TOC region on 17q25
Authors: Risk, JM Ruhrberg, C Hennies, HC Mills, HS Di Colandrea, T Evans, KE Ellis, A Watt, FM Bishop, DT Spurr, NK Stevens, HP Leigh, IM Reis, A Kelsell, DP Field, JK
Citation: Jm. Risk et al., Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): The integration of genetic and physical maps of the TOC region on 17q25, GENOMICS, 59(2), 1999, pp. 234-242
Identification of a novel mutation R42P in the gap junction protein beta-3associated with autosomal dominant erythrokeratoderma variabilis
Authors: Wilgoss, A Leigh, IM Barnes, MR Dopping-Hepenstal, P Eady, RAJ Walter, JM Kennedy, CTC Kelsell, DP
Citation: A. Wilgoss et al., Identification of a novel mutation R42P in the gap junction protein beta-3associated with autosomal dominant erythrokeratoderma variabilis, J INVES DER, 113(6), 1999, pp. 1119-1122
Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia
Authors: Stevens, HP Choon, SE Hennies, HC Kelsell, DP
Citation: Hp. Stevens et al., Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia, BR J DERM, 140(5), 1999, pp. 963-964
Risultati: 1-25 |