Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Joey Lai-Cheong"'
Autor:
Hiram Larangeira de Almeida Jr, Gláucia Thomas Heckler, Kenneth Fong, Joey Lai-Cheong, John McGrath
Publikováno v:
Anais Brasileiros de Dermatologia, Vol 88, Iss 6 suppl 1, Pp 212-215 (2013)
We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous mem
Externí odkaz:
https://doaj.org/article/58fa21ec010d436b90dc663064955638
Autor:
Hiram Larangeira de Almeida Jr, Fernanda Mendes Goetze, Kenneth Fong, Joey Lai-Cheong, John McGrath
Publikováno v:
Anais Brasileiros de Dermatologia, Vol 90, Iss 4, Pp 592-593 (2015)
AbstractA typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acqui
Externí odkaz:
https://doaj.org/article/316a54fcecde46e98558874a3fa85951
Autor:
Moritz Widmaier, Despoina Katsougkri, Joey Lai-Cheong, Reinhard Fässler, Ralph T. Böttcher, Daniel B. Rifkin, Raphael Ruppert, Emanuel Rognoni, Siegfried Ussar, Madis Jakobson, John A. McGrath
Publikováno v:
Nature medicine
Nature Medicine
Nature Medicine
Mutations in Kindlin-1 result in Kindler syndrome, which is marked by skin blistering, premature skin aging and increased risk for skin cancer. Reinhard Fassler and his colleagues have developed a new mouse model of the condition, revealing new cellu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::927e8e7361f8965d51d12d27b973a3c7
http://europepmc.org/articles/PMC3982140
http://europepmc.org/articles/PMC3982140
Autor:
Damianou Marastoni, Joey Lai-Cheong, Richard Nicholas, Massimiliano Calabrese, Roberta Magliozzi
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 90:e46.2-e46
A 48 year-old female with relapsing-remitting multiple sclerosis, diagnosed in 2015, who had failed dimethyl-fumarate treatment with clinical and radiological disease activity - confirmed by a MRI with Gadolinium in January 2018, was started on Alemt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::828a1e9c11e0380294eddfb500b0e903
https://doi.org/10.1136/jnnp-2019-abn-2.154
https://doi.org/10.1136/jnnp-2019-abn-2.154
Autor:
John A. McGrath, Joey Lai-Cheong
Publikováno v:
Medicine. 41:317-320
The skin is the largest organ of the human body. It is a complex epithelial and mesenchymal tissue comprising a multilayered stratified epidermis, adnexal structures such as hair follicles, sweat glands and sebaceous glands, a dermis containing colla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a86f5bbecc678589fdeb8755982fb8d
https://doi.org/10.1016/j.mpmed.2013.04.017
https://doi.org/10.1016/j.mpmed.2013.04.017
Publikováno v:
Dermatologic Therapy. 26:46-54
During the past 20 years, tremendous progress has been made in our understanding of the molecular basis of many genetic skin conditions. The translation of these laboratory findings into effective therapies for affected individuals has been slow, how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c9db6b42c106c358098b81a453f1b87
https://doi.org/10.1111/j.1529-8019.2012.01528.x
https://doi.org/10.1111/j.1529-8019.2012.01528.x
Autor:
A. M. Powell, Jemima E. Mellerio, Kenneth Fong, John A. McGrath, Joey Lai-Cheong, Emma Wedgeworth, I. Tosi
Publikováno v:
Clinical and Experimental Dermatology. 37:631-634
Keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) is an X-linked disorder characterized by widespread hyperkeratotic follicular papules (including keratosis pilaris-like lesions), facial erythema, hypotrichosis and scarring alopecia. KFS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49a5fc8bbf61de23cdeaa5fd95a9b093
https://doi.org/10.1111/j.1365-2230.2011.04288.x
https://doi.org/10.1111/j.1365-2230.2011.04288.x
Autor:
Celine Pourreyron, Joey Lai-Cheong, John A. McGrath, Tanasit Techanukul, John B. Mee, Andrew P. South, Nicola Burrows, Jemima E. Mellerio, Suzanne E. Clements
Publikováno v:
British Journal of Dermatology. 167:134-144
Summary Background AEC (ankyloblepharon–ectodermal defects–clefting) syndrome is an autosomal dominant ectodermal dysplasia disorder caused by mutations in the transcription factor p63. Clinically, the skin is dry and often fragile; other feature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1f72fc190d2a0b077458db48ae9d408
https://doi.org/10.1111/j.1365-2133.2012.10888.x
https://doi.org/10.1111/j.1365-2133.2012.10888.x
Autor:
Jeffrey P. Callen, Sarah Weinel, Yuhki Yanase, Joey Lai-Cheong, Alfred L. Knable, Gillian Carpenter, Mark O'Driscoll, Sheila A. Fisher, Carol L. Kulp-Shorten, Nikoletta Nagy, John A. McGrath, Michihiro Hide, Akio Tanaka, Makiko Hiragun
Publikováno v:
The American Journal of Human Genetics. 90(3):511-517
ATR (ataxia telangiectasia and Rad3 related) is an essential regulator of genome integrity. It controls and coordinates DNA-replication origin firing, replication-fork stability, cell-cycle checkpoints, and DNA repair. Previously, autosomal-recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59548d7eee702b4a1ee61a99468e9882
Autor:
Kenneth Fong, John A. McGrath, A. R. Rama Devi, D. Chirla, I. Tosi, S. K. Panda, Joey Lai-Cheong, Lin Liu
Publikováno v:
Clinical and Experimental Dermatology. 37:635-638
Summary Infantile systemic hyalinosis (ISH) is a rare autosomal recessive genetic disorder characterized by dermal and subcutaneous fibromatosis, joint contractures and bone deformities. The condition usually presents at birth, resulting in death in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bce799864023fe88b945736e2663c48
https://doi.org/10.1111/j.1365-2230.2011.04287.x
https://doi.org/10.1111/j.1365-2230.2011.04287.x