A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex
Groves, Richard W., Liu, Lu, Dopping-Hepenstal, Patricia J., Markus, Hugh S., Lovell, Patricia A., Ozoemena, Linda, Lai-Cheong, Joey E., Gawler, Jeffrey, Owaribe, Katsushi, Hashimoto, Takashi, Mellerio, Jemima E., Mee, John B., McGrath, John A.
Published in Journal of investigative dermatology (01.06.2010)
Published in Journal of investigative dermatology (01.06.2010)
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Journal Article
HB-EGF Induces COL7A1 Expression in Keratinocytes and Fibroblasts: Possible Mechanism Underlying Allogeneic Fibroblast Therapy in Recessive Dystrophic Epidermolysis Bullosa
Nagy, Nikoletta, Almaani, Noor, Tanaka, Akio, Lai-Cheong, Joey E., Techanukul, Tanasit, Mellerio, Jemima E., McGrath, John A.
Published in Journal of investigative dermatology (01.08.2011)
Published in Journal of investigative dermatology (01.08.2011)
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Journal Article
Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression
Liu, Lu, Dopping-Hepenstal, Patricia J., Lovell, Patricia A., Michael, Magdalene, Horn, Helen, Fong, Kenneth, Lai-Cheong, Joey E., Mellerio, Jemima E., Parsons, Maddy, McGrath, John A.
Published in Journal of investigative dermatology (01.03.2012)
Published in Journal of investigative dermatology (01.03.2012)
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Journal Article
Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa
Almaani, Noor, Nagy, Nikoletta, Liu, Lu, Dopping-Hepenstal, Patricia J.C., Lai-Cheong, Joey E., Clements, Suzanne E., Techanukul, Tanasit, Tanaka, Akio, Mellerio, Jemima E., McGrath, John A.
Published in Journal of investigative dermatology (01.07.2010)
Published in Journal of investigative dermatology (01.07.2010)
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Journal Article
Loss-of-Function FERMT1 Mutations in Kindler Syndrome Implicate a Role for Fermitin Family Homolog-1 in Integrin Activation
Lai-Cheong, Joey E, Parsons, Maddy, Tanaka, Akio, Ussar, Siegfried, South, Andrew P, Gomathy, Sethuraman, Mee, John B, Barbaroux, Jean-Baptiste, Techanukul, Tanasit, Almaani, Noor, Clements, Suzanne E, Hart, Ian R, McGrath, John A
Published in The American journal of pathology (01.10.2009)
Published in The American journal of pathology (01.10.2009)
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Journal Article
The molecular skin pathology of familial primary localized cutaneous amyloidosis
Tanaka, Akio, Lai-Cheong, Joey E., Van Den Akker, Peter C., Nagy, Nikoletta, Millington, George, Diercks, Gilles F. H., Van Voorst Vader, Pieter C., Clements, Suzanne E., Almaani, Noor, Techanukul, Tanasit, Hide, Michihiro, South, Andrew P., McGrath, John A.
Published in Experimental dermatology (01.05.2010)
Published in Experimental dermatology (01.05.2010)
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Journal Article
New Glycine Substitution Mutations in Type VII Collagen Underlying Epidermolysis Bullosa Pruriginosa but the Phenotype is not Explained by a Common Polymorphism in the Matrix Metalloproteinase-1 Gene Promoter
ALMAANI, Noor, LIU, Lu, HARRISON, Naomi, TANAKA, Akio, LAI-CHEONG, Joey E, MELLERIO, Jemima E, MCGRATH, John A
Published in Acta dermato-venereologica (2009)
Published in Acta dermato-venereologica (2009)
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Journal Article
Genetic Diseases of Junctions
Lai-Cheong, Joey E., Arita, Ken, McGrath, John A.
Published in Journal of investigative dermatology (01.12.2007)
Published in Journal of investigative dermatology (01.12.2007)
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Journal Article
Five New Homozygous Mutations in the KIND1 Gene in Kindler Syndrome
Lai-Cheong, Joey E., Liu, Lu, Sethuraman, Gomathy, Kumar, Rajesh, Sharma, Vinod K., Reddy, Siva R., Vahlquist, Anders, Pather, Sandra, Arita, Ken, Wessagowit, Vesarat, McGrath, John A.
Published in Journal of investigative dermatology (01.09.2007)
Published in Journal of investigative dermatology (01.09.2007)
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Journal Article
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis
LIN, Ming-Wei, LEE, Ding-Dar, LAI-CHEONG, Joey, PALISSON, Francis, CHANG, Yun-Ting, WONG, Chu-Kwan, MATSUURA, Isao, MCGRATH, John A, TSAI, Shih-Feng, LIU, Tze-Tze, LIN, Yong-Feng, CHEN, Shang-Yi, HUANG, Chih-Cheng, WENG, Hui-Ying, LIU, Yu-Fen, TANAKA, Akio, ARITA, Ken
Published in European journal of human genetics : EJHG (01.01.2010)
Published in European journal of human genetics : EJHG (01.01.2010)
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Journal Article
Case of Kindler syndrome resulting from mutation in the FERMT1 gene
WADA, Makoto, MASUDA, Koji, TSURUTA, Daisuke, TAMAI, Katsuto, LAI-CHEONG, Joey E., McGRATH, John A., KATOH, Norito
Published in Journal of dermatology (01.12.2012)
Published in Journal of dermatology (01.12.2012)
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Journal Article
Revertant Mosaicism in Kindler Syndrome
Lai-Cheong, Joey E., Moss, Celia, Parsons, Maddy, Almaani, Noor, McGrath, John A.
Published in Journal of investigative dermatology (01.03.2012)
Published in Journal of investigative dermatology (01.03.2012)
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Journal Article
Sporadic Kindler syndrome with a novel mutation
Almeida, Jr, Hiram Larangeira de, Heckler, Gláucia Thomas, Fong, Kenneth, Lai-Cheong, Joey, McGrath, John
Published in Anais brasileiros de dermatología (01.12.2013)
Published in Anais brasileiros de dermatología (01.12.2013)
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Journal Article
Next-Generation Diagnostics for Inherited Skin Disorders
Lai-Cheong, Joey E., McGrath, John A.
Published in Journal of investigative dermatology (01.10.2011)
Published in Journal of investigative dermatology (01.10.2011)
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Journal Article
Is adermatoglyphia an additional feature of Kindler Syndrome?
Almeida, Jr, Hiram Larangeira de, Goetze, Fernanda Mendes, Fong, Kenneth, Lai-Cheong, Joey, McGrath, John
Published in Anais brasileiros de dermatología (01.07.2015)
Published in Anais brasileiros de dermatología (01.07.2015)
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