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Results: 1-23 |
Results: 23
Platelet and cardiac function in Darier's disease
Authors: Tavadia, S Tait, RC McDonagh, TA Munro, CS
Citation: S. Tavadia et al., Platelet and cardiac function in Darier's disease, CLIN EXP D, 26(8), 2001, pp. 696-699
The clinical photography of Herbert Brown: a perspective on early 20th Century dermatology
Authors: Jury, CS Lucke, TW Munro, CS
Citation: Cs. Jury et al., The clinical photography of Herbert Brown: a perspective on early 20th Century dermatology, CLIN EXP D, 26(5), 2001, pp. 449-454
Grand round cases - A vesico-pustular rash and arthralgia - Chronic meningococcaemia (Neisseria meningitidis group X).
Authors: Dawe, RS Sweeney, G Munro, CS
Citation: Rs. Dawe et al., Grand round cases - A vesico-pustular rash and arthralgia - Chronic meningococcaemia (Neisseria meningitidis group X)., CLIN EXP D, 26(1), 2001, pp. 113-114
A novel mutation in the keratin 13 gene causing oral white sponge nevus
Authors: Terrinoni, A Rugg, EL Lane, EB Melino, G Felix, DH Munro, CS McLean, WHI
Citation: A. Terrinoni et al., A novel mutation in the keratin 13 gene causing oral white sponge nevus, J DENT RES, 80(3), 2001, pp. 919-923
Trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation
Authors: Rouan, F White, TW Brown, N Taylor, AV Lucke, TW Paul, DL Munro, CS Uitto, J Hodgins, MB Richard, G
Citation: F. Rouan et al., Trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation, J CELL SCI, 114(11), 2001, pp. 2105-2113
Pachyonychia congenita: mutations and clinical presentations
Authors: Munro, CS
Citation: Cs. Munro, Pachyonychia congenita: mutations and clinical presentations, BR J DERM, 144(5), 2001, pp. 929-930
Multigeminate beard hairs and folliculitis
Authors: Naysmith, L De Berker, D Munro, CS
Citation: L. Naysmith et al., Multigeminate beard hairs and folliculitis, BR J DERM, 144(2), 2001, pp. 427-428
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 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
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
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
Authors: Sudbrak, R Brown, J Dobson-Stone, C Carter, S Ramser, J White, J Healy, E Dissanayake, M Larregue, M Perrussel, M Lehrach, H Munro, CS Strachan, T Burge, S Hovnanian, A Monaco, AP
Citation: R. Sudbrak et al., Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump, HUM MOL GEN, 9(7), 2000, pp. 1131-1140
Mutant loricrin is not crosslinked into the cornified cell envelope but istranslocated into the nucleus in loricrin keratoderma
Authors: Ishida-Yamamoto, A Kato, H Kiyama, H Armstrong, DKB Munro, CS Eady, RAJ Nakamura, S Kinouchi, M Takahashi, H Iizuka, H
Citation: A. Ishida-yamamoto et al., Mutant loricrin is not crosslinked into the cornified cell envelope but istranslocated into the nucleus in loricrin keratoderma, J INVES DER, 115(6), 2000, pp. 1088-1094
Angiolymphoid hyperplasia with eosinophilia: successful treatment with pulsed dye laser using the double pulse technique
Authors: Gupta, G Munro, CS
Citation: G. Gupta et Cs. Munro, Angiolymphoid hyperplasia with eosinophilia: successful treatment with pulsed dye laser using the double pulse technique, BR J DERM, 143(1), 2000, pp. 214-215
Linear lichen planus related to hepatitis C infection?
Authors: Jury, CS Munro, CS
Citation: Cs. Jury et Cs. Munro, Linear lichen planus related to hepatitis C infection?, BR J DERM, 142(4), 2000, pp. 836-837
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
Authors: Sakuntabhai, A Ruiz-Perez, V Carter, S Jacobsen, N Burge, S Monk, S Smith, M Munro, CS O'Donovan, M Craddock, N Kucherlapati, R Rees, JL Owen, M Lathrop, GM Monaco, AP Strachan, T Hovnanian, A
Citation: A. Sakuntabhai et al., Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease, NAT GENET, 21(3), 1999, pp. 271-277
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class
Authors: Ruiz-Perez, VL Carter, SA Healy, E Todd, C Rees, JL Steijlen, PM Carmichael, AJ Lewis, HM Hohl, D Itin, P Vahlquist, A Gobello, T Mazzanti, C Reggazini, R Nagy, G Munro, CS Strachan, T
Citation: Vl. Ruiz-perez et al., ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class, HUM MOL GEN, 8(9), 1999, pp. 1621-1630
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
Authors: Maestrini, E Korge, BP Ocana-Sierra, J Calzolari, E Cambiaghi, S Scudder, PM Hovnanian, A Monaco, AP Munro, CS
Citation: E. Maestrini et al., A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families, HUM MOL GEN, 8(7), 1999, pp. 1237-1243
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype
Authors: Korge, BP Hamm, H Jury, CS Traupe, H Irvine, AD Healy, E Birch-Machin, M Rees, JL Messenger, AG Holmes, SC Parry, DAD Munro, CS
Citation: Bp. Korge et al., Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype, J INVES DER, 113(4), 1999, pp. 607-612
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
The value of in-patient dermatology: a survey of in-patients in Scotland and northern England
Authors: Munro, CS Lowe, JG Mcloone, P White, MI Hunter, JAA
Citation: Cs. Munro et al., The value of in-patient dermatology: a survey of in-patients in Scotland and northern England, BR J DERM, 140(3), 1999, pp. 474-479
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
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: 1-23 |