Results 161 to 170 of about 31,665 (304)

Spontaneous corneal perforation in a patient with lamellar ichthyosis and dry eye

Clinical Ophthalmology, 2009
Burak Turgut1, Orhan Aydemir1, Murat Kaya1, Peykan Türkçüog? lu2, Tamer Demir1, Ülkü Çeliker11Firat University School of Medicine, Department of Ophthalmology, Elazig, Turkey; 2Inonu University ...
Burak Turgut, Orhan Aydemir, Murat Kaya, et al   +3 more
doaj  

Validity of First-Time Diagnoses of Inherited Ichthyosis in the Danish National Patient Registry and the Danish Pathology Registry

Clinical Epidemiology, 2020
Mattias Hedegaard Kristensen,1 Sigrun Alba Johannesdottir Schmidt,2 Line Kibsgaard,1 Hanne Hove,3 Mette Sommerlund,1 Uffe Koppelhus1 1Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; 2Department of Clinical Epidemiology, Aarhus ...
Kristensen MH, Schmidt SAJ, Kibsgaard L, Hove H, Sommerlund M, Koppelhus U   +5 more
doaj  

Genodermatosen, die der Praktiker kennen muss [PDF]

, 2018
Zusammenfassung: Gesundheit oder Krankheit sind das Resultat von genetischer Konstellation und genetischer Veranlagung. Monogene Erkrankungen werden sehr stark durch die Mutation eines einzigen Gens phänotypisch geprägt.
Itin, P., Salgado, D.A.
core  

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

, 2015
Faisal Ahmad, Muhammad Ansar, Sabba Mehmood, A. Izoduwa, Kwanghyuk Lee, Abdul Nasır, Muhammad Abrar, Sabba Mehmood, Asmat Ullah, Abdul Aziz, Joshua D. Smith, Jay Shendure, M. Bamshad, D.A. Nicekrson, Regie Lyn P. Santos‐Cortez, Suzanne M. Leal, Wasim Ahmad   +16 more
openalex   +1 more source

Targeting matriptase in breast cancer abrogates tumour progression via impairment of stromal-epithelial growth factor signalling. [PDF]

, 2015
Matriptase is an epithelia-specific membrane-anchored serine protease that has received considerable attention in recent years because of its consistent dysregulation in human epithelial tumours, including breast cancer.
Bergum, Christopher, Boerner, Julie, Colombo, Éloïc, Lang, Julie E, Leduc, Richard, List, Karin, Marsault, Eric, Molinolo, Alfredo A, Murray, Andrew S, Tanabe, Lauren M, Varela, Fausto A, Zoratti, Gina L   +11 more
core   +1 more source

Connexin26 and 43 play a role in regulating pro-inflammatory events in the epidermis [PDF]

, 2019
Bartholomew, Christopher, García-Vega, Laura, Jan, Afnan, Martin, Patricia E., O'Shaughnessy, Erin M.   +4 more
core   +1 more source

Genetic Heterogeneity in Lamellar Ichthyosis

, 1996
Sherri J. Bale, John G. Compton, Laura Russell, John J. DiGiovanna   +3 more
openalex   +1 more source

Lamellar ichthyosis in a female neonate without a collodion membrane [PDF]

, 2018
Kevin Chao, Maria Aleshin, Zachary Goldstein, Scott Worswick, Marcia Hogeling   +4 more
openalex   +1 more source

Epidermolyticus ichthyosis [PDF]

, 2016
Zsanett Csoma, Judit Mari, Péter Franczia, Erika Varga, Lajos Kemény, Nikoletta Nagy   +5 more
openalex   +1 more source

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis [PDF]

, 2016
Yohya Shigehara, Shujiro Okuda, Georges Nemer, Adele Chedraoui, Ryota Hayashi, Fadi Bitar, Hiroyuki Nakai, Ossama Abbas, Laetitia Daou, Riichiro Abe, Maria Bou Sleiman, Abdul Ghani Kibbi, Mazen Kurban, Yutaka Shimomura   +13 more
openalex   +1 more source