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Results: 1-14 |
Results: 14
Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy
Authors: Dharma, B Moss, C McGrath, JA Mellerio, JE Ilchyshyn, A
Citation: B. Dharma et al., Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy, CLIN EXP D, 26(1), 2001, pp. 93-96
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
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
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome
Authors: Wessagowit, V Mellerio, JE Pembroke, AC McGrath, JA
Citation: V. Wessagowit et al., Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome, CLIN EXP D, 25(5), 2000, pp. 441-443
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
Molecular pathology of the cutaneous basement membrane zone
Authors: Mellerio, JE
Citation: Je. Mellerio, Molecular pathology of the cutaneous basement membrane zone, CLIN EXP D, 24(1), 1999, pp. 25-32
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
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
Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene
Authors: Cserhalmi-Friedman, PB McGrath, JA Mellerio, JE Romero, R Salas-Alanis, JC Paller, AS Dietz, HC Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene, LAB INV, 78(12), 1998, pp. 1483-1492
Risultati: 1-14 |