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Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.
Published in:
2021
By:
- Vahidnezhad, Hassan;
- Youssefian, Leila;
- Saeidian, Amir Hossein;
- Ziaee, Vahid;
- Mahmoudi, Hamidreza;
- Parvaneh, Nima;
- Ashjaei, Bahar;
- Shahrokh, Soroush;
- Kamyab Hesari, Kambiz;
- Soltani Zangbar, Mohammadsadegh;
- Yousefi, Mehdi;
- Zeinali, Sirous;
- Uitto, Jouni
Publication type:
journal article
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
Published in:
2018
By:
- Youssefian, Leila;
- Vahidnezhad, Hassan;
- Touati, Andrew;
- Ziaee, Vahid;
- Saeidian, Amir Hossein;
- Pajouhanfar, Sara;
- Zeinali, Sirous;
- Uitto, Jouni
Publication type:
Case Study
The matriptase-prostasin proteolytic cascade in dermatologic diseases.
Published in:
Experimental Dermatology, 2020, v. 29, n. 7, p. 580, doi. 10.1111/exd.14104
By:
- Touati, Andrew;
- Saeidian, Amir Hossein;
- Youssefian, Leila;
- Faghankhani, Masoomeh;
- Niaziorimi, Fatemeh;
- Pajouhanfar, Sara;
- Vahidnezhad, Hassan;
- Uitto, Jouni
Publication type:
Article
Linear basal cell nevus with a novel mosaic PTCH1 mutation.
Published in:
Experimental Dermatology, 2020, v. 29, n. 6, p. 531, doi. 10.1111/exd.14101
By:
- Saeidian, Amir Hossein;
- Cohen‐Nowak, Adam;
- O'Donnell, Megan;
- Shalabi, Doaa;
- McGuinn, Kathleen P.;
- Youssefian, Leila;
- Vahidnezhad, Hassan;
- Niaziorimi, Fatemeh;
- Dasgeb, Bahar;
- Kasper, David A.;
- Lee, Jason B.;
- Uitto, Jouni;
- Nikbakht, Neda
Publication type:
Article
Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Published in:
Experimental Dermatology, 2019, v. 28, n. 10, p. 1118, doi. 10.1111/exd.13501
By:
- Vahidnezhad, Hassan;
- Youssefian, Leila;
- Saeidian, Amir Hossein;
- Zeinali, Sirous;
- Touati, Andrew;
- Abiri, Maryam;
- Sotoudeh, Soheila;
- Norouz‐zadeh, Sara;
- Amirinezhad, Niloufar;
- Mozafari, Nikoo;
- Daneshpazhooh, Maryam;
- Mahmoudi, Hamidreza;
- Hamid, Mohammad;
- Bradfield, Jonathan P.;
- Kim, Cecilia E.;
- Hakonarson, Hakon;
- Uitto, Jouni
Publication type:
Article
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
Published in:
2017
By:
- Youssefian, Leila;
- Touati, Andrew;
- Saeidian, Amir Hossein;
- Zargari, Omid;
- Zeinali, Sirous;
- Vahidnezhad, Hassan;
- Uitto, Jouni
Publication type:
journal article
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Published in:
Molecular Cancer, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12943-023-01828-5
By:
- Liu, Yichuan;
- Qu, Hui-Qi;
- Chang, Xiao;
- Mentch, Frank D;
- Qiu, Haijun;
- Wang, Xiang;
- Saeidian, Amir Hossein;
- Watson, Deborah;
- Glessner, Joseph;
- Hakonarson, Hakon
Publication type:
Article
Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing.
Published in:
Biomarker Research, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40364-022-00431-y
By:
- Liu, Yichuan;
- Qu, Hui-Qi;
- Chang, Xiao;
- Mentch, Frank D;
- Qiu, Haijun;
- Nguyen, Kenny;
- Wang, Xiang;
- Saeidian, Amir Hossein;
- Watson, Deborah;
- Glessner, Joseph;
- Hakonarson, Hakon
Publication type:
Article
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
Published in:
Clinical Chemistry, 2021, v. 67, n. 6, p. 876, doi. 10.1093/clinchem/hvab042
By:
- Youssefian, 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
Publication type:
Article
Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
Published in:
Acta Dermato-Venereologica, 2020, v. 100, p. 177, doi. 10.2340/00015555-3431
By:
- UITTO, Jouni;
- YOUSSEFIAN, Leila;
- SAEIDIAN, Amir Hossein;
- VAHIDNEZHAD, Hassan
Publication type:
Article
Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA).
Published in:
2020
By:
- Ziaee, Vahid;
- Youssefian, Leila;
- Faghankhani, Masoomeh;
- Jazayeri, Ali;
- Saeidian, Amir Hossein;
- Vahidnezhad, Hassan;
- Uitto, Jouni
Publication type:
Letter
Inherited Interleukin 2–Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
Published in:
Clinical Infectious Diseases, 2019, v. 68, n. 11, p. 1938, doi. 10.1093/cid/ciy942
By:
- Youssefian, Leila;
- Vahidnezhad, Hassan;
- Yousefi, Mehdi;
- Saeidian, Amir Hossein;
- Azizpour, Arghavan;
- Touati, Andrew;
- Nikbakht, Neda;
- Hesari, Kambiz Kamyab-;
- Adib-Sereshki, Mohammad Mahdi;
- Zeinali, Sirous;
- Mansoori, Behzad;
- Jazayeri, Ali;
- Karamzadeh, Razieh;
- Fortina, Paolo;
- Jouanguy, Emmanuelle;
- Casanova, Jean-Laurent;
- Uitto, Jouni
Publication type:
Article
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
By:
- Shirzadeh, Tina;
- Saeidian, Amir Hossein;
- Bagherian, Hamideh;
- Salehpour, Shadab;
- Setoodeh, Aria;
- Alaei, Mohammad Reza;
- Youssefian, Leila;
- Samavat, Ashraf;
- Touati, Andrew;
- Fallah, Mohammad‐Sadegh;
- Vahidnezhad, Hassan;
- Karimipoor, Morteza;
- Azadmehr, Sarah;
- Raeisi, Marzieh;
- Bandehi Sarhadi, Ameneh;
- Zafarghandi Motlagh, Fatemeh;
- Jamali, Mojdeh;
- Zeinali, Zahra;
- Abiri, Maryam;
- Zeinali, Sirous
Publication type:
Article
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
By:
- Shirzadeh, Tina;
- Saeidian, Amir Hossein;
- Bagherian, Hamideh;
- Salehpour, Shadab;
- Setoodeh, Aria;
- Alaei, Mohammad Reza;
- Youssefian, Leila;
- Samavat, Ashraf;
- Touati, Andrew;
- Fallah, Mohammad-Sadegh;
- Vahidnezhad, Hassan;
- Karimipoor, Morteza;
- Azadmehr, Sarah;
- Raeisi, Marzieh;
- Bandehi Sarhadi, Ameneh;
- Zafarghandi Motlagh, Fatemeh;
- Jamali, Mojdeh;
- Zeinali, Zahra;
- Abiri, Maryam;
- Zeinali, Sirous
Publication type:
Article
Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.975
By:
- Saeidian, Amir Hossein;
- Vahidnezhad, Hassan;
- Youssefian, Leila;
- Sotudeh, Soheila;
- Sargazi, Meisam;
- Zeinali, Sirous;
- Uitto, Jouni
Publication type:
Article
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78344-9
By:
- Vahidnezhad, 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
Publication type:
Article
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1706, doi. 10.1002/humu.24434
By:
- Vahidnezhad, Hassan;
- Youssefian, Leila;
- Harvey, Nailah;
- Tavasoli, Ali Reza;
- Saeidian, Amir Hossein;
- Sotoudeh, Soheila;
- Varghaei, Aida;
- Mahmoudi, Hamidreza;
- Mansouri, Parvin;
- Mozafari, Nikoo;
- Zargari, Omid;
- Zeinali, Sirous;
- Uitto, Jouni
Publication type:
Article
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Published in:
Human Mutation, 2019, v. 40, n. 3, p. 288, doi. 10.1002/humu.23695
By:
- Youssefian, Leila;
- Vahidnezhad, Hassan;
- Saeidian, Amir Hossein;
- Touati, Andrew;
- Sotoudeh, Soheila;
- Mahmoudi, Hamidreza;
- Mansouri, Parvin;
- Daneshpazhooh, Maryam;
- Aghazadeh, Nessa;
- Hesari, Kambiz Kamyab;
- Basiri, Mohammadreza;
- Londin, Eric;
- Kumar, Gaurav;
- Zeinali, Sirous;
- Fortina, Paolo;
- Uitto, Jouni
Publication type:
Article
A novel autosomal recessive GJB2‐associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
Published in:
Human Mutation, 2019, v. 40, n. 2, p. 217, doi. 10.1002/humu.23686
By:
- Youssefian, Leila;
- Vahidnezhad, Hassan;
- Saeidian, Amir Hossein;
- Mahmoudi, Hamidreza;
- Karamzadeh, Razieh;
- Kariminejad, Ariana;
- Huang, Jianhe;
- Li, Leping;
- Jannace, Thomas F.;
- Fortina, Paolo;
- Zeinali, Sirous;
- White, Thomas W.;
- Uitto, Jouni
Publication type:
Article
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Published in:
Human Mutation, 2018, v. 39, n. 10, p. 1349, doi. 10.1002/humu.23592
By:
- Vahidnezhad, Hassan;
- Youssefian, Leila;
- Saeidian, Amir Hossein;
- Touati, Andrew;
- Sotoudeh, Soheila;
- Jazayeri, Ali;
- Guy, Alyson;
- Lovell, Patricia A.;
- Liu, Lu;
- Kariminejad, Ariana;
- McGrath, John A.;
- Zeinali, Sirous;
- Uitto, Jouni
Publication type:
Article
Genomic information of children with malignant brain tumors for the prediction of length of hospitalization.
Published in:
Cancer Communications, 2023, v. 43, n. 11, p. 1271, doi. 10.1002/cac2.12475
By:
- Liu, Yichuan;
- Qu, Hui‐Qi;
- Chang, Xiao;
- Mentch, Frank D;
- Qiu, Haijun;
- Nguyen, Kenny;
- Wang, Xiang;
- Saeidian, Amir Hossein;
- Watson, Deborah;
- Glessner, Joseph;
- Hakonarson, Hakon
Publication type:
Article
The Tehran longitudinal family-based cardiometabolic cohort study sheds new light on dyslipidemia transmission patterns.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53504-3
By:
- Akbarzadeh, Mahdi;
- Riahi, Parisa;
- Saeidian, Amir Hossein;
- Zarkesh, Maryam;
- Masjoudi, Sajedeh;
- Asgarian, Sara;
- Guity, Kamran;
- Moheimani, Hamed;
- Masoudi, Homayoon;
- Roudbar, Mahmoud Amiri;
- Khalili, Davood;
- Hosseinpanah, Farhad;
- Barzin, Maryam;
- Hogan, Carolyn T.;
- Hakonarson, Hakon;
- Hedayati, Mehdi;
- Daneshpour, Maryam S.;
- Azizi, Fereidoun
Publication type:
Article

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