Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Andrew Touati"'
Autor:
Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali, Jouni Uitto
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Abstract Background Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regu
Externí odkaz:
https://doaj.org/article/f61b8be7887241dbad55a2f8e911fff5
Autor:
Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
Abstract Background Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosi
Externí odkaz:
https://doaj.org/article/d41b368c2e734e9e881e891c2ad783bd
Autor:
Shannon Nugent, Fred Karaisz, Maisa Elbadawi, Andrew Touati, Neda Nikbakht, Jason B Lee, Hasan Arif
Publikováno v:
Dermatology Online Journal. 28
Autor:
Jouni Uitto, Jonathan G. Schoenecker, J. Huang, Qiaoli Li, Tamara Wurst, Andrew Touati, Ellen Ryu, Sharon F. Terry, Paolo Fortina, Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Matthew Caffet, Jagmohan Singh, Luke Kowal, Adam E. Snook
Publikováno v:
Genet Med
PURPOSE: Heritable ectopic mineralization disorders comprise a group of conditions with a broad range of clinical manifestations in non-skeletal connective tissues. We report the genetic findings from a large international cohort of 478 patients affl
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:
Masoomeh Faghankhani, Sara Pajouhanfar, Hassan Vahidnezhad, Fatemeh Niaziorimi, Jouni Uitto, Andrew Touati, Leila Youssefian, Amir Hossein Saeidian
Publikováno v:
Experimental dermatologyREFERENCES. 29(7)
The proper development and function of skin and hair are dependent on proteolytic activities. Specifically, the matriptase-prostasin cascade is a series of proteolytic reactions in the epidermis integral to normal regulation of desquamation. An incre
Autor:
Leila Youssefian, Hassan Vahidnezhad, Zahra Zeinali, Mohammad Reza Alaei, Tina Shirzadeh, Morteza Karimipoor, Sarah Azadmehr, Mojdeh Jamali, Mohammad-Sadegh Fallah, Amir Hossein Saeidian, Marzieh Raeisi, Andrew Touati, Ameneh Bandehi Sarhadi, Sirous Zeinali, Hamideh Bagherian, Shadab Salehpour, Fatemeh Zafarghandi Motlagh, Ashraf Samavat, Aria Setoodeh, Maryam Abiri
Publikováno v:
Journal of Inherited Metabolic Disease. 41:1159-1167
Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene, characterized by intellectual deficit and neuropsychiatric complications in untreated patients with estimated frequency
Autor:
Sirous Zeinali, Jouni Uitto, Hassan Vahidnezhad, Nikoo Mozafari, Cecilia E. Kim, Mohammad Hamid, Maryam Daneshpazhooh, Leila Youssefian, Hamidreza Mahmoudi, Sara Norouz-zadeh, Amir Hossein Saeidian, Maryam Abiri, Niloufar Amirinezhad, Jonathan P. Bradfield, Soheila Sotoudeh, Andrew Touati, Hakon Hakonarson
Publikováno v:
Experimental Dermatology. 28:1118-1121
Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) traits and facilitation of genetic diagnosis. We investigated the utility of AM for the molecular diagnosis of heterogeneous AR disorders, using epiderm
Autor:
Hassan Vahidnezhad, Leila Youssefian, Sirous Zeinali, Omid Zargari, Jouni Uitto, Andrew Touati, Amir Hossein Saeidian
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hyp
Autor:
Mohammad Hamid, Paolo Fortina, Soheila Sotoudeh, Hassan Vahidnezhad, Sirous Zeinali, Andrew Touati, Sara Norouz-zadeh, Mahla Zahabiyon, Mohammadreza Barzegar, Leila Youssefian, Amir Hossein Saeidian, Maryam Abiri, Jouni Uitto, Hamideh Bagherian, Nessa Aghazadeh, Hamidreza Mahmoudi
Publikováno v:
Journal of Investigative Dermatology. 137:2649-2652