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Showing results (171-180 of 206) with videos related to

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Prenatal Diagnosis|July 1, 1995
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one familyJ A McGrath, J R McMillan, M G Dunnill, et al.
Experimental Dermatology|April 17, 1999
A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosaJ E Mellerio, J C Salas-Alanis, M Amaya-Guerra, et al.
The Journal of Investigative Dermatology|December 14, 1999
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilisA Wilgoss, I M Leigh, M R Barnes, et al.
Genomics|September 1, 1995
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at riskJ A McGrath, S Kivirikko, S Ciatti, et al.
Clinical and Experimental Dermatology|March 22, 2001
Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1V Wessagowit, G H Ashton, R Mohammedi, et al.
The British Journal of Dermatology|June 1, 1997
Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutationJ R McMillan, J A McGrath, L Pulkkinen, et al.
The Journal of Investigative Dermatology|October 3, 1999
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 electrophoresisN V Whittock, G H Ashton, R Mohammedi, et al.
Nature Genetics|November 5, 1997
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndromeJ A McGrath, J R McMillan, C S Shemanko, et al.
The British Journal of Dermatology|January 20, 1999
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosaJ E Mellerio, J C Salas-Alanis, M L Talamantes, et al.
The Journal of Investigative Dermatology|December 20, 2000
Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratodermaA Ishida-Yamamoto, H Kato, H Kiyama, et al.
Pageof 21

Showing results (171-180 of 206) with videos related to

Sort By:
Pageof 21
Prenatal Diagnosis|July 1, 1995
Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one familyJ A McGrath, J R McMillan, M G Dunnill, et al.
Experimental Dermatology|April 17, 1999
A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosaJ E Mellerio, J C Salas-Alanis, M Amaya-Guerra, et al.
The Journal of Investigative Dermatology|December 14, 1999
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilisA Wilgoss, I M Leigh, M R Barnes, et al.
Genomics|September 1, 1995
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at riskJ A McGrath, S Kivirikko, S Ciatti, et al.
Clinical and Experimental Dermatology|March 22, 2001
Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1V Wessagowit, G H Ashton, R Mohammedi, et al.
The British Journal of Dermatology|June 1, 1997
Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutationJ R McMillan, J A McGrath, L Pulkkinen, et al.
The Journal of Investigative Dermatology|October 3, 1999
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 electrophoresisN V Whittock, G H Ashton, R Mohammedi, et al.
Nature Genetics|November 5, 1997
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndromeJ A McGrath, J R McMillan, C S Shemanko, et al.
The British Journal of Dermatology|January 20, 1999
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosaJ E Mellerio, J C Salas-Alanis, M L Talamantes, et al.
The Journal of Investigative Dermatology|December 20, 2000
Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratodermaA Ishida-Yamamoto, H Kato, H Kiyama, et al.
Pageof 21