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Results: 1-16 |
Results: 16
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
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
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
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
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
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
Frequency of the CCR5 gene 32-basepair deletion in Hispanic Mexicans
Authors: Salas-Alanis, JC Mellerio, JE Ashton, GHS McGrath, JA
Citation: Jc. Salas-alanis et al., Frequency of the CCR5 gene 32-basepair deletion in Hispanic Mexicans, CLIN EXP D, 24(2), 1999, pp. 127-129
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
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
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-senseor frameshift mutations
Authors: McGrath, JA Ashton, GHS Mellerio, JE Salas-Alanis, JC Swensson, O McMillan, JR Eady, RAJ
Citation: Ja. Mcgrath et al., Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-senseor frameshift mutations, J INVES DER, 113(3), 1999, pp. 314-321
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa
Authors: Mellerio, JE Ashton, GHS Mohammedi, R Lyon, CC Kirby, B Harman, KE Salas-Alanis, JC Atherton, DJ Harrison, PV Griffiths, WAD Black, MM Eady, RAJ McGrath, JA
Citation: Je. Mellerio et al., Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa, J INVES DER, 112(6), 1999, pp. 984-987
Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
Authors: McGrath, JA Hoeger, PH Christiano, AM McMillan, JR Mellerio, JE Ashton, GHS Dopping-Hepenstal, PJC Lake, BD Leigh, IM Harper, JI Eady, RAJ
Citation: Ja. Mcgrath et al., Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1, BR J DERM, 140(2), 1999, pp. 297-307
Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome
Authors: Basarab, T Ashton, GHS Menage, HD McGrath, JA
Citation: T. Basarab et al., Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome, BR J DERM, 140(1), 1999, pp. 164-167
Risultati: 1-16 |