Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Alyson Guy"'
Autor:
Hassan Vahidnezhad, Leila Youssefian, Masoomeh Faghankhani, Nikoo Mozafari, Amir Hossein Saeidian, Fatemeh Niaziorimi, Fahimeh Abdollahimajd, Soheila Sotoudeh, Fateme Rajabi, Liaosadat Mirsafaei, Zahra Alizadeh Sani, Lu Liu, Alyson Guy, Sirous Zeinali, Ariana Kariminejad, Reginald T. Ho, John A. McGrath, Jouni Uitto
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Abstract Arrhythmogenic right ventricular cardiomyopathy (ARVC), with skin manifestations, has been associated with mutations in JUP encoding plakoglobin. Genotype–phenotype correlations regarding the penetrance of cardiac involvement, and age of o
Externí odkaz:
https://doaj.org/article/ab057a9d7d3946ec9f202a73bd59378c
Autor:
Tuntas Rayinda, Sheila M McSweeney, Nikolina Lalagianni, Lu Liu, Alyson Guy, David Fenton, Catherine M Stefanato, Nick Dand, John A McGrath, Christos Tziotzios
Publikováno v:
Clinical and Experimental Dermatology. 48:579-583
This report describes a case of an 18-year-old white British woman with HTSS1, whose phenotype was characterized by the inability to grow long scalp hair. Whole exome sequencing identified a novel pathogenic heterozygous nonsense variant (NM_001264.4
Autor:
Reginald T. Ho, Zahra Alizadeh Sani, Soheila Sotoudeh, Amir Hossein Saeidian, Hassan Vahidnezhad, Sirous Zeinali, Jouni Uitto, Fahimeh Abdollahimajd, Liaosadat Mirsafaei, Lu Liu, Ariana Kariminejad, Leila Youssefian, Fateme Rajabi, Masoomeh Faghankhani, Nikoo Mozafari, Fatemeh Niaziorimi, John A. McGrath, Alyson Guy
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports
Scientific Reports
Arrhythmogenic right ventricular cardiomyopathy (ARVC), with skin manifestations, has been associated with mutations in JUP encoding plakoglobin. Genotype–phenotype correlations regarding the penetrance of cardiac involvement, and age of onset have
Autor:
Alexandros Marantzidis, Evangelia Kesidou, Jemima E. Mellerio, Hagar Bessar, Lu Liu, Alexandros Onoufriadis, John A. McGrath, Noha Farouk Ahmed, Michael A. Simpson, Alyson Guy, Maria Papanikolaou, John Y.W. Lee
Publikováno v:
Journal of Investigative Dermatology. 140:1285-1288
Autor:
Ji Hoon, Han, Gavin, Ryan, Alyson, Guy, Lu, Liu, Mathieu, Quinodoz, Ingrid, Helbling, Joey E, Lai-Cheong, Julian, Barwell, Marc, Folcher, John A, McGrath, Celia, Moss, Carlo, Rivolta
Publikováno v:
Human molecular genetics. 31(12)
In the framework of the UK 100 000 Genomes Project, we investigated the genetic origin of a previously undescribed recessive dermatological condition, which we named LIPHAK (LTV1-associated Inflammatory Poikiloderma with Hair abnormalities and Acral
Autor:
Holm Schneider, Hamidreza Mahmoudi, Maryam Daneshpazhooh, Jouni Uitto, Lu Liu, Ariana Kariminejad, Alyson Guy, Judith Fischer, Julie Christiansen, Hassan Vahidnezhad, Leila Youssefian, Cristina Has, John A. McGrath
Publikováno v:
Vahidnezhad, H, Youssefian, L, Daneshpazhooh, M, Mahmoudi, H, Kariminejad, A, Fischer, J, Christiansen, J, Schneider, H, Guy, A, Liu, L, McGrath, J A, Has, C & Uitto, J 2019, ' Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out” ', Matrix Biology, vol. 83, pp. 48-59 . https://doi.org/10.1016/j.matbio.2019.07.002
Epidermolysis bullosa simplex (EBS) is usually inherited as an autosomal dominant disease due to monoallelic gain-of-function mutations in KRT5 or KRT14. Although autosomal recessive forms of EBS have been associated with mutations in at least 10 gen
Autor:
Ariana Kariminejad, Keith A. Choate, John A. McGrath, Alyson Guy, Mahtab Naji, Leila Youssefian, Masoud Zabihi, Nailah Harvey, Lynn M. Boyden, Andrew Touati, Sirous Zeinali, Hassan Vahidnezhad, Amir Hossein Saeidian, Lu Liu, Soheila Sotoudeh, Mohammadreza Barzegar, Jouni Uitto
Publikováno v:
Matrix biology : journal of the International Society for Matrix Biology. 99
Epidermolysis bullosa (EB) is a genotypically heterogeneous group of disorders characterized by cutaneous blistering and erosions with a tremendous spectrum of severity. One of the distinct forms of EB, Kindler EB (KEB), manifests with blistering and
Autor:
Konstantina Dimitrakopoulou, Jemima E. Mellerio, Alyson Guy, D. Cozzetto, Mansoor Saqi, Maria Papanikolaou, L. Lu, Alexandros Onoufriadis, Natashia Benzian-Olsson, John A. McGrath
Publikováno v:
Journal of Investigative Dermatology. 141:S160
Autor:
Lynn M. Boyden, Soheila Sotoudeh, John A. McGrath, Mohammad Barzegar, Hassan Vahidnezhad, Nailah Harvey, Ariana Kariminejad, Sirous Zeinali, Jouni Uitto, Leila Youssefian, Amir Hossein Saeidian, Andrew Touati, Lin Liu, Alyson Guy, Masoud Zabihi, Keith A. Choate
Publikováno v:
Journal of Investigative Dermatology. 141:S33
Autor:
Alyson Guy, Soheila Sotoudeh, Sirous Zeinali, John A. McGrath, Ariana Kariminejad, Lu Liu, Patricia A. Lovell, Hassan Vahidnezhad, Jouni Uitto, Leila Youssefian
Publikováno v:
Human mutationREFERENCES. 41(5)
Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal