檢索結果 - Sirous Zeinali
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Targeted deletion of BCL11A gene by CRISPR-Cas9 system for fetal hemoglobin reactivation: A promising approach for gene therapy of beta thalassemia disease 由 Mohammad Khosravi, Maryam Abbasalipour, Jean‐Paul Concordet, Johannes vom Berg, Sirous Zeinali, Arash Arashkia, Kayhan Azadmanesh, Thorsten Buch, Morteza Karimipoor
出版 2019Artigo -
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Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages 由 Hassan Vahidnezhad, Leila Youssefian, Sirous Zeinali, Amir Hossein Saeidian, Soheila Sotoudeh, Nikoo Mozafari, Maryam Abiri, Abdol‐Mohammad Kajbafzadeh, Mohammadreza Barzegar, Adam Ertel, Paolo Fortina, Jouni Uitto
出版 2016Artigo -
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Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations 由 Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Sara Pajouhanfar, Soheila Sotoudeh, Parvin Mansouri, Davoud Amirkashani, Sirous Zeinali, Michael A. Levine, Ketty Peris, Roberto Colombo, Jouni Uitto
出版 2019Artigo -
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Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families 由 Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Andrew Touati, Soheila Sotoudeh, Hamidreza Mahmoudi, Parvin Mansouri, Maryam Daneshpazhooh, Nessa Aghazadeh, Kambiz Kamyab Hesari, Mohammadreza Basiri, Eric Londin, Gaurav Kumar, Sirous Zeinali, Paolo Fortina, Jouni Uitto
出版 2018Artigo -
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Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy 由 Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Hamidreza Mahmoudi, Andrew Touati, Maryam Abiri, Abdol‐Mohammad Kajbafzadeh, Sophia Aristodemou, Lu Liu, John A. McGrath, Adam Ertel, Eric Londin, Ariana Kariminejad, Sirous Zeinali, Paolo Fortina, Jouni Uitto
出版 2017Artigo -
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Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abn... 由 Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Andrew Touati, Sara Pajouhanfar, Taghi Baghdadi, Azam Ahmadi Shadmehri, Cecilia Giunta, Marius Kraenzlin, Delfien Syx, Fransiska Malfait, Cristina Has, Su M. Lwin, Razieh Karamzadeh, Lu Liu, Alyson Guy, Mohammad Hamid, Ariana Kariminejad, Sirous Zeinali, John A. McGrath, Jouni Uitto
出版 2018Artigo -
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Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families 由 Ricardo Harripaul, Nasim Vasli, А. О. Михайлов, Muhammad Rafiq, Kirti Mittal, Christian Windpassinger, Taimoor I. Sheikh, Abdul Noor, Hina Mahmood, Samantha I Downey, Maneesha Johnson, Kayla Vleuten, Lauren Bell, Muhammad Ilyas, Falak Sher Khan, Valeed Khan, Mohammad Moradi, M. Ayaz, Farooq Naeem, Asieh Heidari, Iqra I. Ahmed, Shirin Ghadami, Zehra Agha, Sirous Zeinali, Raheel Qamar, Hossein Mozhdehipanah, Peter John, Asif Mir, Muhammad Ansar, Leon French, Muhammad Ayub, John B. Vincent
出版 2017Artigo -
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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort 由 Güney Bademci, Joseph Foster, Nejat Mahdieh, Mortaza Bonyadi, Duygu Duman, Filiz Başak Cengiz, Ibis Menéndez, Oscar Diaz‐Horta, Atefeh Shirkavand, Sirous Zeinali, Aslı Subaşıoğlu, Suna Tokgöz-Yılmaz, Fabiola Huesca-Hernández, María de la Luz Arenas‐Sordo, Juan Domínguez-Aburto, Edgar Hernández‐Zamora, Paola Montenegro, Rosario Paredes, Germania Moreta, Rodrigo Vinueza, Franklin Villegas, Santiago Mendoza-Benitez, Shengru Guo, Nazım Bozan, Tülay Tos, Armağan İncesulu, Gonca Sennaroğlu, Susan H. Blanton, Hatice Akay, Muzeyyen Yildirim‐Baylan, Mustafa Tekin
出版 2015Artigo -
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The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses 由 Sarah Jill de Jong, Amandine Créquer, Irina Matos, David Hum, Vignesh Gunasekharan, Lazaro Lorenzo, Fabienne Jabot‐Hanin, E. Imahorn, Andrés A. Arias, Hassan Vahidnezhad, Leila Youssefian, Janet Markle, Étienne Patin, Aurelia D’amico, Claire Q. Wang, Florian Full, Armin Ensser, Thomas Leisner, Leslie V. Parise, Matthieu Bouaziz, Nataly Portilla Maya, Xavier Rueda Cadena, Bayaki Saka, Amir Hossein Saeidian, Nessa Aghazadeh, Sirous Zeinali, Peter Itin, James G. Krueger, Lou Laimins, Laurent Abel, Elaine Fuchs, Jouni Uitto, José Luis Franco, Bettina Burger, Gérard Orth, Emmanuelle Jouanguy, Jean‐Laurent Casanova
出版 2018Artigo -
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Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder 由 D.L. Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, Parham Habibzadeh, Olga Levchenko, Pooneh Nikuei, Periklis Makrythanasis, Mureed Hussain, Sandra von Hardenberg, Sirous Zeinali, Mohammad‐Sadegh Fallah, Janneke Schuurs-Hoeijmakers, Mohsin Shahzad, Fareeha Fatima, Neelam Fatima, Laura Donker Kaat, Hennie T. Brüggenwirth, Leah R. Fleming, John Condie, Rafał Płoski, Agnieszka Pollak, Jacek Pilch, Nina Demina, А. Л. Чухрова, Vasilina S. Sergeeva, Hanka Venselaar, Amira Masri, Hanan Hamamy, Federico Santoni, Katrin Linda, Zubair M. Ahmed, Nael Nadif Kasri, Arjan P.M. de Brouwer, Anke K. Bergmann, Sven Hethey, Majid Yavarian, Muhammad Ansar, Saima Riazuddin, Sheikh Riazuddin, Mohammad Silawi, Gaia Ruggeri, Filomena Pirozzi, Ebrahim Eftekhar, Afsaneh Taghipour Sheshdeh, Shima Bahramjahan, Ghayda Mirzaa, А. В. Лавров, Stylianos E. Antonarakis, Mohammad Ali Faghihi, Hans van Bokhoven
出版 2021Artigo
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Biology
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Genetics
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Exome sequencing
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Epidermolysis bullosa
Exome
Gene expression
Immunology
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Pathology
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DNA methylation
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Diabetes mellitus
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Genetic heterogeneity
Methylation
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Alcoholic liver disease