Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Faezeh Mojahedi"'
Autor:
Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 3, p 635 (2017)
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autoso
Externí odkaz:
https://doaj.org/article/4c166db2fb024c9bbcbc1fe5b7799b2c
Autor:
Reza Jafarzadeh Esfehani, Masood Zahmatkesh, Reza Goldozian, Javad Farkhonde, Ehsan Jaripour, Asghar Hatami, Hamid Reza Bidkhori, Seyyed Khosro Shamsian, Seyyed AliAkbar Shamsian, Faezeh Mojahedi
Publikováno v:
Clinical and Experimental Vaccine Research. 12:25
Autor:
Payman Jamali, Zhila Ghaderi, Hans-Hilger Ropers, Haleh Habibi, Fatemeh Pourfatemi, Farahnaz Sabbagh Kermani, Zohreh Mehrjoo, Kimia Kahrizi, Farnaz Sadeghinia, Hao Hu, Vera M. Kalscheuer, Bettina Lipkowitz, Reza Najafipour, Sanaz Arzhangi, Maryam Rahimi, Pooneh Nikuei, Atefeh Khoshaeen, Marzieh Mohseni, Masoumeh Hosseini, Hossein Najmabadi, Vanessa Suckow, Milad Falahat Chian, Faezeh Mojahedi, Sepideh Mehvari, Zohreh Fattahi, Maryam Beheshtian, Roshanak Jazayeri, Mohammad-Reza Khodaie-Ardakani, S. Hassan Tonekaboni, Tara Akhtarkhavari, Thomas F. Wienker
Publikováno v:
Clinical Genetics: an international journal of genetics in medicine
In outbred Western populations, most individuals with intellectual disability (ID) are sporadic cases, dominant de novo mutations (DNM) are frequent, and autosomal recessive ID (ARID) is very rare. Due to the high rate of parental consanguinity which
Autor:
Raheleh Vazehan, Hans-Hilger Ropers, Elham Parsimehr, Zahra Kalhor, Seyedeh Sedighe Abedini, Mahboubeh Kamgar, Faezeh Mojahedi, K. Kahrizi, Ariana Kariminejad, Farahnaz Sabbagh Kermani, Mahsa Fadaee, Zohreh Fattahi, Vera M. Kalscheuer, Mehrshid Faraji Zonooz, Maryam Beheshtian, Sanaz Arzhangi, Shokouh Sadat Mahdavi, Payman Jamali, Hossein Najmabadi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fff711e3ecf3e7c1323f891e04ae0d9f
https://doi.org/10.1111/cge.13549/v2/response1
https://doi.org/10.1111/cge.13549/v2/response1
Autor:
Shokouh Sadat Mahdavi, Ariana Kariminejad, Hossein Najmabadi, Raheleh Vazehan, Kimia Kahrizi, Payman Jamali, Seyedeh Sedigheh Abedini, Faezeh Mojahedi, Mehrshid Faraji Zonooz, Hans-Hilger Ropers, Vera M. Kalscheuer, Sanaz Arzhangi, Mahsa Fadaee, Zohreh Fattahi, Maryam Beheshtian, Zahra Kalhor, Mahboubeh Kamgar, Farahnaz Sabbagh Kermani, Elham Parsimehr
Publikováno v:
Clinical genetics. 95(6)
Neurodevelopmental delay and intellectual disability (ID) can arise from numerous genetic defects. To date, variants in the EXOSC gene family have been associated with such disorders. Using next-generation sequencing (NGS), known and novel variants i
Autor:
Sarah Azimi, Leila Nouri Vahid, Krystyna Keleman, Pooneh Nikuei, Tara Akhtarkhavari, Thomas F. Wienker, Beate Albrecht, Hossein Khodaei, Mohammad Reza Ebrahimpour, Mohammad Javad Soltani Banavandi, Marzieh Mohseni, Vanessa Suckow, Aria Jankhah, Milad Bastami, Behzad Davarnia, Vera M. Kalscheuer, Farzaneh Larti, Saeide Akbari, Kimia Kahrizi, Jamileh Rezazadeh Varaghchi, Bettina Lipkowitz, Sanaz Arzhangi, Morteza Oladnabi, Monika Cohen, Sabine Otto, Zohreh Fattahi, Luciana Musante, Payman Jamali, Maryam Beheshtian, Masoumeh Hosseini, Maryam Taghdiri, Wei Chen, Seyedeh Sedigheh Abedini, Bernd Timmermann, Hans-Hilger Ropers, Andreas Tzschach, Gholamreza Bahrami, Birgit Zirn, Hossein Najmabadi, Dagmar Wieczorek, Ingrid Bader, Gabriele Gillessen-Kaesbach, Cornelia Oppitz, Elaheh Papari, Hao Hu, Ralf Herwig, Fatemeh Pourfatemi, Jutta Gärtner, Faezeh Mojahedi, Hossein Dehghani, Sepideh Mehvari, Seyed Hassan Tonekaboni
Publikováno v:
Molecular Psychiatry
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda29e76af95f3244bac3fef885f1ad6
https://hdl.handle.net/21.11116/0000-0000-638A-5
https://hdl.handle.net/21.11116/0000-0000-638A-5
Autor:
Mohammad-Reza Khodaie-Ardakani, Farahnaz Sabbagh Kermani, K. Kahrizi, Roshanak Jazayeri, Pooneh Nikuei, Payman Jamali, Masoumeh Hosseini, Faezeh Mojahedi, Tara Akhtarkhavari, Zhila Ghaderi, Sepideh Mehvari, Atefeh Khoshaeen, Zohreh Fattahi, Marzieh Mohseni, Maryam Beheshtian, Zohreh Mehrjoo, Haleh Habibi, Vera M. Kalscheuer, Hao Hu, Bettina Lipkowitz, Hossein Najmabadi, Sanaz Arzhangi, Fatemeh Pourfatemi, Thomas F. Wienker, Vanessa Suckow, Seyed Hassan Tonekaboni, Hans-Hilger Ropers, Farnaz Sadeghinia, Reza Najafipour, Maryam Rahimi, Milad Falahat Chian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::000e3618e22f42b36e7c1116d71c1d08
https://doi.org/10.1111/cge.13463/v2/response1
https://doi.org/10.1111/cge.13463/v2/response1
Autor:
Bülent Kara, Ariana Kariminejad, Elif Fenercioglu, Faruk Incecik, William B. Dobyns, Sumita Danda, Jamel Chelly, Rengang Wang, Hind Y. Al-Abdulwahed, Lobna Mansour, Nouriya Al-Sanaa, Hülya Kayserili, Martin W. Breuss, Jennifer L. Silhavy, Ahmet Okay Caglayan, Valentina Stanley, Kaya Bilguvar, Bruce A. Barshop, Tawfeg Ben-Omran, Gia Melikishvili, Rasim Ozgur Rosti, Rami Abou Jamra, Na Cai, Murat Gunel, Damir Musaev, Faezeh Mojahedi, Ashleigh E. Schaffer, Hisham Megahed, Eissa Faqeih, Rahul Nachnani, Cahide Yilmaz, Hande Kaymakçalan, Seham Elsharif, Biayna Sukhudyan, Brett Copeland, Joseph G. Gleeson, Ian Miller, Eric C. Scott, Maha S. Zaki, Majdi Kara, Aneesha Kalur, Kiely N. James, Seung Tae Baek, Yasemin Alanay
Publikováno v:
Nature genetics
WOS: 000440423400008 PubMed ID: 30013181 Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, encoding alpha N-catenin, in patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5d5d9ed61d420602f3b24e1d07a882
https://hdl.handle.net/20.500.12605/9341
https://hdl.handle.net/20.500.12605/9341
Autor:
Keith K. Vaux, Mahmut Şamil Sağıroğlu, Laila Bastaki, Seth J. Field, Pascale de Lonlay, Sawsan Abdel-Hadi, Lihadh Al-Gazali, Hülya Kayserili, Ali Dursun, Jeffrey D. Esko, Eric Scott, Xin Wang, Faezeh Mojahedi, Ashleigh E. Schaffer, R. Köksal Özgül, Iman G. Mahmoud, Isabelle Desguerre, Matthew D. Buschman, Laila Selim, Samia A. Temtamy, Jean-Laurent Casanova, Murat Gunel, Abdelrahim Abdrabou Sadek, Philip L.S.M. Gordts, Brett Copeland, Mona Aglan, Amira Masri, Maha S. Zaki, Joseph G. Gleeson, Matloob Azam, Naiara Akizu, Vincent Cantagrel, Antoinette Gelot, Basak Rosti, Jennifer L. Silhavy, Esra Dikoglu, Ulrich Müller, Amera El Badawy, Gennaro Napolitano, Stacey Gabriel, Rasim Ozgur Rosti, Jana Schroth, Samira Ismail, Ghada M H Abdel-Salam
Publikováno v:
Nature genetics, vol 47, iss 5
Nature genetics
Nature genetics
Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 fami
Autor:
Nathalie Escande-Beillard, Fariba Afroozan, Abigail Loh, Eva Morava, Yu Xuan Tan, Ariana Kariminejad, Bita Bozorgmehr, Bruno Reversade, Faezeh Mojahedi, Fransiska Malfait, Hamid Reza Khorram Khorshid, Aria Setoodeh, Thatjana Gardeitchik, Alireza Ghanadan, Susan Akbaroghli
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 3, p 635 (2017)
International Journal of Molecular Sciences
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
International Journal of Molecular Sciences, 18, 635-635
International Journal of Molecular Sciences, 18, 3, pp. 635-635
International Journal of Molecular Sciences
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
International Journal of Molecular Sciences, 18, 635-635
International Journal of Molecular Sciences, 18, 3, pp. 635-635
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c2f88a192bcd4c5e0b08c63dbdddd4d
https://doi.org/10.3390/ijms18030635
https://doi.org/10.3390/ijms18030635