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J Uitto

Showing results (471-480 of 693) with videos related to

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American Journal of Human Genetics|April 1, 1996
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotypeA M Christiano, I Anton-Lamprecht, S Amano, et al.
The Journal of Investigative Dermatology|March 1, 1995
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosaA M Christiano, A Morricone, M Paradisi, et al.
The Journal of Investigative Dermatology|June 1, 1997
Identification of novel glucocorticoid-response elements in human elastin promoter and demonstration of nucleotide sequence specificity of the receptor bindingM Del Monaco, S P Covello, S H Kennedy, et al.
Human Molecular Genetics|May 1, 1997
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresiaL Pulkkinen, V E Kimonis, Y Xu, et al.
Diabetes|October 1, 1980
Increased collagen cross-linkages in experimental diabetes: reversal by beta-aminopropionitrile and D-penicillamineK Chang, J Uitto, E A Rowold, et al.
The Journal of Investigative Dermatology|July 1, 1997
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosaS Chavanas, Y Gache, G Tadini, et al.
Journal of Cell Science|October 19, 1999
Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosaS Heinonen, M Männikkö, J F Klement, et al.
Prenatal Diagnosis|October 16, 1999
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1F J Smith, V A McKusick, K Nielsen, et al.
The British Journal of Dermatology|October 13, 2017
Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defectsL Youssefian, A Touati, H Vahidnezhad, et al.
Journal of the American Academy of Dermatology|July 1, 1984
Anetoderma: biochemical and ultrastructural demonstration of an elastin defect in the skin of three patientsA I Oikarinen, R Palatsi, G E Adomian, et al.
Pageof 70

Showing results (471-480 of 693) with videos related to

Sort By:
Pageof 70
American Journal of Human Genetics|April 1, 1996
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotypeA M Christiano, I Anton-Lamprecht, S Amano, et al.
The Journal of Investigative Dermatology|March 1, 1995
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosaA M Christiano, A Morricone, M Paradisi, et al.
The Journal of Investigative Dermatology|June 1, 1997
Identification of novel glucocorticoid-response elements in human elastin promoter and demonstration of nucleotide sequence specificity of the receptor bindingM Del Monaco, S P Covello, S H Kennedy, et al.
Human Molecular Genetics|May 1, 1997
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresiaL Pulkkinen, V E Kimonis, Y Xu, et al.
Diabetes|October 1, 1980
Increased collagen cross-linkages in experimental diabetes: reversal by beta-aminopropionitrile and D-penicillamineK Chang, J Uitto, E A Rowold, et al.
The Journal of Investigative Dermatology|July 1, 1997
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosaS Chavanas, Y Gache, G Tadini, et al.
Journal of Cell Science|October 19, 1999
Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosaS Heinonen, M Männikkö, J F Klement, et al.
Prenatal Diagnosis|October 16, 1999
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1F J Smith, V A McKusick, K Nielsen, et al.
The British Journal of Dermatology|October 13, 2017
Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defectsL Youssefian, A Touati, H Vahidnezhad, et al.
Journal of the American Academy of Dermatology|July 1, 1984
Anetoderma: biochemical and ultrastructural demonstration of an elastin defect in the skin of three patientsA I Oikarinen, R Palatsi, G E Adomian, et al.
Pageof 70