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Frances J D Smith

Showing results (41-50 of 52) with videos related to

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The Journal of Investigative Dermatology. Symposium Proceedings|October 28, 2005
Clinical and pathological features of pachyonychia congenitaSancy A Leachman, Roger L Kaspar, Philip Fleckman, et al.
The Journal of Investigative Dermatology|February 14, 2004
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndromeGabrielle H S Ashton, W H Irwin McLean, Andrew P South, et al.
The Journal of Allergy and Clinical Immunology|June 16, 2015
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakinMaeve A McAleer, Elizabeth Pohler, Frances J D Smith, et al.
Human Molecular Genetics|January 14, 2016
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophyEdwin H A Allen, David G Courtney, Sarah D Atkinson, et al.
American Journal of Human Genetics|February 17, 2015
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle padsZhimiao Lin, Jiahui Zhao, Daniela Nitoiu, et al.
Nature Genetics|January 31, 2006
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Nature Genetics|August 27, 2013
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wastingLiat Samuelov, Ofer Sarig, Robert M Harmon, et al.
Nature Genetics|March 22, 2006
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisColin N A Palmer, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Human Molecular Genetics|August 14, 2003
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeW H Irwin McLean, Alan D Irvine, Kevin J Hamill, et al.
Nature Genetics|April 10, 2007
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczemaAileen Sandilands, Ana Terron-Kwiatkowski, Peter R Hull, et al.
Pageof 6

Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
The Journal of Investigative Dermatology. Symposium Proceedings|October 28, 2005
Clinical and pathological features of pachyonychia congenitaSancy A Leachman, Roger L Kaspar, Philip Fleckman, et al.
The Journal of Investigative Dermatology|February 14, 2004
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndromeGabrielle H S Ashton, W H Irwin McLean, Andrew P South, et al.
The Journal of Allergy and Clinical Immunology|June 16, 2015
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakinMaeve A McAleer, Elizabeth Pohler, Frances J D Smith, et al.
Human Molecular Genetics|January 14, 2016
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophyEdwin H A Allen, David G Courtney, Sarah D Atkinson, et al.
American Journal of Human Genetics|February 17, 2015
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle padsZhimiao Lin, Jiahui Zhao, Daniela Nitoiu, et al.
Nature Genetics|January 31, 2006
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgarisFrances J D Smith, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Nature Genetics|August 27, 2013
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wastingLiat Samuelov, Ofer Sarig, Robert M Harmon, et al.
Nature Genetics|March 22, 2006
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitisColin N A Palmer, Alan D Irvine, Ana Terron-Kwiatkowski, et al.
Human Molecular Genetics|August 14, 2003
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeW H Irwin McLean, Alan D Irvine, Kevin J Hamill, et al.
Nature Genetics|April 10, 2007
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczemaAileen Sandilands, Ana Terron-Kwiatkowski, Peter R Hull, et al.
Pageof 6