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Results: 1-25 | 26-33
Results: 1-25/33
Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1
Authors: Wessagowit, V Ashton, GHS Mohammedi, R Salas-Alanis, JC Denyer, JE Mellerio, JE Eady, RAJ McGrath, JA
Citation: V. Wessagowit et al., Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1, CLIN EXP D, 26(1), 2001, pp. 97-99
A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis
Authors: Thornhill, AR McGrath, JA Eady, RAJ Braude, PR Handyside, AH
Citation: Ar. Thornhill et al., A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis, PRENAT DIAG, 21(6), 2001, pp. 490-497
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens
Authors: Whittock, NV Ashton, GHS Griffiths, WAD Eady, RAJ McGrath, JA
Citation: Nv. Whittock et al., New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens, BR J DERM, 145(2), 2001, pp. 330-335
alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia
Authors: Ashton, GHS Sorelli, P Mellerio, JE Keane, FM Eady, RAJ McGrath, JA
Citation: Ghs. Ashton et al., alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia, BR J DERM, 144(2), 2001, pp. 408-414
Genomic organization and amplification of the human plakoglobin gene (JUP)
Authors: Whittock, NV Eady, RAJ McGrath, JA
Citation: Nv. Whittock et al., Genomic organization and amplification of the human plakoglobin gene (JUP), EXP DERMATO, 9(5), 2000, pp. 323-326
Prenatal diagnosis for inherited skin diseases
Authors: Ashton, GHS Eady, RAJ McGrath, JA
Citation: Ghs. Ashton et al., Prenatal diagnosis for inherited skin diseases, CLIN DERMAT, 18(6), 2000, pp. 643-648
Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report
Authors: Thornhill, AR Pickering, SJ Whittock, NV Caller, J Andritsos, V Bickerstaff, HE Handyside, AH Eady, RAJ Braude, PR McGrath, JA
Citation: Ar. Thornhill et al., Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report, PRENAT DIAG, 20(13), 2000, pp. 1055-1062
Inherited epidermolysis bullosa comes into the new millenium: A revised classification system based on current knowledge of pathogenetic mechanisms and the clinical, laboratory, and epidemiologic findings of large, well-defined patient cohorts
Authors: Fine, JD McGrath, J Eady, RAJ
Citation: Jd. Fine et al., Inherited epidermolysis bullosa comes into the new millenium: A revised classification system based on current knowledge of pathogenetic mechanisms and the clinical, laboratory, and epidemiologic findings of large, well-defined patient cohorts, J AM ACAD D, 43(1), 2000, pp. 135-137
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa
Authors: Fine, JD Eady, RAJ Bauer, EA Briggaman, RA Bruckner-Tuderman, L Christiano, A Heagerty, A Hintner, H Jonkman, MF McGrath, J McGuire, J Moshell, A Shimizu, H Tadini, G Uitto, J
Citation: Jd. Fine et al., Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa, J AM ACAD D, 42(6), 2000, pp. 1051-1066
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
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21
Authors: Whittock, NV Coleman, CM McLean, WH Ashton, GHS Acland, KM Eady, RAJ McGrath, JA
Citation: Nv. Whittock et al., The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21, J INVES DER, 115(4), 2000, pp. 694-698
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
Authors: Whittock, NV Haftek, M Angoulvant, N Wolf, F Perrot, H Eady, RAJ McGrath, JA
Citation: Nv. Whittock et al., Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome, J INVES DER, 115(3), 2000, pp. 368-374
A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease
Authors: Batta, K Rugg, EL Wilson, NJ West, N Goodyear, H Lane, EB Gratian, M Dopping-Hepenstal, P Moss, C Eady, RAJ
Citation: K. Batta et al., A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease, BR J DERM, 143(3), 2000, pp. 621-627
Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3
Authors: Whittock, NV Hunt, DM Rickman, L Malhi, S Vogazianou, AP Dawson, LF Eady, RAJ Buxton, RS McGrath, JA
Citation: Nv. Whittock et al., Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3, BIOC BIOP R, 276(2), 2000, pp. 454-460
Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5
Authors: Whittock, NV Eady, RAJ McGrath, JA
Citation: Nv. Whittock et al., Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5, BIOC BIOP R, 274(1), 2000, pp. 149-152
Genomic organization and amplification of the human keratin 15 and keratin19 genes
Authors: Whittock, NV Eady, RAJ McGrath, JA
Citation: Nv. Whittock et al., Genomic organization and amplification of the human keratin 15 and keratin19 genes, BIOC BIOP R, 267(1), 2000, pp. 462-465
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
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantarkeratoderma (vol 8, pg 143, 1999)
Authors: Armstrong, DKB McKenna, KE Purkis, PE Green, KJ Eady, RAJ Leigh, IM Hughes, AE
Citation: Dkb. Armstrong et al., Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantarkeratoderma (vol 8, pg 143, 1999), HUM MOL GEN, 8(5), 1999, pp. 943-943
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantarkeratoderma
Authors: Keith, D Armstrong, B McKenna, KE Purkis, PE Green, KJ Eady, RAJ Leigh, IM Hughes, AE
Citation: D. Keith et al., Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantarkeratoderma, HUM MOL GEN, 8(1), 1999, pp. 143-148
A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa
Authors: Mellerio, JE Salas-alanis, JC Amaya-Guerra, M Tamez, E Ashton, GHS Mohammedi, R Eady, RAJ McGrath, JA
Citation: Je. Mellerio et al., A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa, EXP DERMATO, 8(1), 1999, pp. 22-29
Recurrent molecular abnormalities in type VII collagen in southern Italianpatients with recessive dystrophic epidermolysis bullosa
Authors: Ashton, GHS Mellerio, JE Dunnill, MGS Milana, G Mayou, BJ Carrera, J McGrath, JA Eady, RAJ
Citation: Ghs. Ashton et al., Recurrent molecular abnormalities in type VII collagen in southern Italianpatients with recessive dystrophic epidermolysis bullosa, CLIN EXP D, 24(3), 1999, pp. 232-235
A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa
Authors: Mohammedi, R Mellerio, JE Ashton, GHS Eady, RAJ McGrath, JA
Citation: R. Mohammedi et al., A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa, CLIN EXP D, 24(1), 1999, pp. 37-39
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
Authors: Whittock, NV Ashton, GHS Dopping-Hepenstal, PJC Gratian, MJ Keane, FM Eady, RAJ McGrath, JA
Citation: Nv. Whittock et al., Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency, J INVES DER, 113(6), 1999, pp. 940-946
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
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis
Authors: Whittock, NV Ashton, GHS Mohammedi, R Mellerio, JE Mathew, CG Abbs, SJ Eady, RAJ McGrath, JA
Citation: Nv. Whittock et al., Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis, J INVES DER, 113(4), 1999, pp. 673-686
Risultati: 1-25 | 26-33