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Results: 1-13 |
Results: 13
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
Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in differentclinical variants of acrodermatitis enteropathica
Authors: Bleck, O Ashton, GHS Mallipeddi, R South, AP Whittock, NV McLean, WHI Atherton, DJ McGrath, JA
Citation: O. Bleck et al., Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in differentclinical variants of acrodermatitis enteropathica, ARCH DERM R, 293(8), 2001, pp. 392-396
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
Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene
Authors: Whittock, NV McLean, WHI
Citation: Nv. Whittock et Whi. Mclean, Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene, BIOC BIOP R, 281(2), 2001, pp. 425-430
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
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
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
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
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
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: 1-13 |