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收藏DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity
Hozhabrpour, Amir; Mojbafan, Marzieh; Palizban, Fahimeh; Vahidnezhad, Fatemeh; Talebi, Saeed; Amani, Maliheh; Garshasbi, Masoud; Naghavi, Anoosh; Khalesi, Raziyeh; Mansouri, Parvin; Sotoudeh, Soheila; Mahmoudi, Hamidreza; Varghaei, Aida; Daneshpazhooh, Maryam; Karimi, Fatemeh; Zeinali, Sirous; Kalamati, Elnaz; Uitto, Jouni; Youssefian, Leila; Vahidnezhad, Hassan 分享 收藏 分享 收藏 Cohort profile update: Tehran cardiometabolic genetic studyDaneshpour, Maryam S.; Akbarzadeh, Mahdi; Lanjanian, Hossein; Sedaghati-Khayat, Bahar; Guity, Kamran; Masjoudi, Sajedeh; Zahedi, Asiyeh Sadat; Moazzam-Jazi, Maryam; Bonab, Leila Najd Hassan; Shalbafan, Bita; Asgarian, Sara; Farhood, Goodarz Koli; Javanrooh, Niloofar; Zarkesh, Maryam; Riahi, Parisa; Moghaddas, Mohammad Reza; Dehkordi, Parvaneh Arbab; Ahmadi, Azar Delbarpour; Hosseini, Firoozeh; Farahani, Sara Jalali; Hadaegh, Farzad; Mirmiran, Parvin; Tehrani, Fahimeh Ramezani; Ghanbarian, Arash; Pasand, Mohammad Sadegh Fallah Mahboob; Amiri, Parisa; Valizadeh, Majid; Hosseipanah, Farhad; Tohidi, Maryam; Ghasemi, Asghar; Zadeh-Vakili, Azita; Piryaei, Mohammad; Alamdari, Shahram; Khalili, Davood; Momenan, Amirabbas; Barzin, Maryam; Zeinali, Sirous; Hedayati, Mehdi; Azizi, Fereidoun 分享 收藏 Recalcitrant Cutaneous Warts in a Family with Inherited ICOS DeficiencyYoussefian, Leila; Saeidian, Amir Hossein; Tavasoli, Ali Reza; Kalamati, Elnaz; Naghipoor, Karim; Hozhabrpour, Amir; Mesdaghi, Mehrnaz; Saffarian, Zahra; Mahmoudi, Hamidreza; Nabavi, Mohammad; Shokri, Sima; Zeinali, Sirous; Beziat, Vivien; Casanova, Jean-Laurent; Jouanguy, Emmanuelle; Uitto, Jouni; Vahidnezhad, Hassan 分享 收藏 Ichthyosis follicularis syndromes in patients with mutations in GJB2Youssefian, Leila; Naji, Mahtab; Park, Jason S.; Rajabi, Fateme; Abdollahimajd, Fahimeh; Mahmoudi, Hamidreza; Kamyab-Hesari, Kambiz; Ghalamkarpour, Fariba; Zabihi, Masoud; Teimoorian, Mehrdad; Youssefian, Laya; Zeinali, Sirous; Vahidnezhad, Hassan; Uitto, Jouni 分享 收藏 Mutation update: The spectra of PLEC sequence variants and related plectinopathiesVahidnezhad, Hassan; Youssefian, Leila; Harvey, Nailah; Tavasoli, Alireza; Saeidian, Amir H.; Sotoudeh, Soheila; Varghaei, Aida; Mahmoudi, Hamidreza; Mansouri, Parvin; Mozafari, Nikoo; Zargari, Omid; Zeinali, Sirous; Uitto, Jouni 分享 收藏 Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERPYoussefian, L.; Khodavaisy, S.; Khosravi-Bachehmir, F.; Park, J. S.; Saeidian, A. H.; Mahmoudi, H.; Saffarian, Z.; Naraghi, Z. S.; Kamyab-Hesari, K.; Zeinali, S.; Vahidnezhad, H.; Uitto, J. 分享 收藏 Lessons for preparedness and reasons for concern from the early COVID-19 epidemic in IranGhafari, Mahan; Hejazi, Bardia; Karshenas, Arman; Dascalu, Stefan; Kadvidar, Alireza; Khosravi, Mohammad A.; Abbasalipour, Maryam; Heydari, Majid; Zeinali, Sirous; Ferretti, Luca; Ledda, Alice; Katzourakis, Aris 分享 收藏 分享 收藏 Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of ConsanguinityYoussefian, Leila; Saeidian, Amir Hossein; Palizban, Fahimeh; Bagherieh, Atefeh; Abdollahimajd, Fahimeh; Sotoudeh, Soheila; Mozafari, Nikoo; Farahani, Rahele A.; Mahmoudi, Hamidreza; Babashah, Sadegh; Zabihi, Masoud; Zeinali, Sirous; Fortina, Paolo; Salas-Alanis, Julio C.; South, Andrew P.; Vahidnezhad, Hassan; Uitto, Jouni 分享 收藏 Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragilityVahidnezhad, Hassan; Youssefian, Leila; Faghankhani, Masoomeh; Mozafari, Nikoo; Saeidian, Amir Hossein; Niaziorimi, Fatemeh; Abdollahimajd, Fahimeh; Sotoudeh, Soheila; Rajabi, Fateme; Mirsafaei, Liaosadat; Sani, Zahra Alizadeh; Liu, Lu; Guy, Alyson; Zeinali, Sirous; Kariminejad, Ariana; Ho, Reginald T.; McGrath, John A.; Uitto, Jouni 分享 收藏 Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutationAsgari, Tina; Naji, Mahtab; Mansouri, Parvin; Mahmoudi, Hamidreza; Zabihi, Masoud; Youssefian, Leila; Mahdavi, Mohammadreza; Naraghi, Zahra Safaei; Zeinali, Sirous; Vahidnezhad, Hassan; Uitto, Jouni 分享 收藏 Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutationsYoussefian, Leila; Vahidnezhad, Hassan; Saeidian, Amir Hossein; Pajouhanfar, Sara; Sotoudeh, Soheila; Mansouri, Parvin; Amirkashani, Davoud; Zeinali, Sirous; Levine, Michael A.; Peris, Ketty; Colombo, Roberto; Uitoo, Jouni 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Development and validation of a novel panel of 16 STR markers for simultaneous diagnosis of β-thalassemia, aneuploidy screening, maternal cell contamination detection and fetal sample authenticity in PND and PGD/PGS casesSharifi, Zohreh; Rahiminejad, Faezeh; Joudaki, Atefeh; Bandehi, Ameneh Sarhadi; Farahzadi, Hossein; Keshvar, Yeganeh; Golnabi, Fatemeh; Naderi, Sanaz; Yazdani, Rasaneh; Shafaat, Mehdi; Ghadami, Shirin; Abiri, Maryam; Zeinali, Sirous 分享 收藏 A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia VerruciformisVahidnezhad, Hassan; Youssefian, Leila; Saeidian, Hossein; Mansoori, Behzad; Jazayeri, Ali; Azizpour, Arghavan; Hesari, Kambriz Kamyab; Yousefi, Mehdi; Zeinali, Sirous; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Uitto, Jouni 分享 收藏 Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutationsMotlagh, F. Zafarghandi; Fallah, M. S.; Bagherian, H.; Shirzadeh, T.; Ghasri, S.; Dabbagh, S.; Jamali, M.; Salehi, Z.; Abiri, M.; Zeinali, S. 分享 收藏 
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