Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

di Farajzadeh Valilou, Saeed, Alavi, Afagh, Pashaei, Mahdiyeh, Ghasemi Firouzabadi, Saghar, Shafeghati, Yousef, Nozari, Ahoura, Hadipour, Fatemeh, Hadipour, Zahra, Maghsoodlou Estrabadi, Bijan, Gholamreza Noorazar, Seyed, Banihashemi, Susan, Karimian, Javad, Fattahi, Mahshid, Behjati, Farkhondeh
Pubblicato in Mol Syndromol (2020)

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

di Behjati, Farkhondeh, Ghasemi Firouzabadi, Saghar, Kahrizi, Kimia, Kariminejad, Roxana, Bagherizadeh, Iman, Ansari, Javad, Fallah, Masoumeh, Mojtahedi, Forough, Darvish, Hossein, Bahrami Monajemi, Gholamreza, Abedini, S. Sedigheh, Jamali, Payman, Mojahedi, Faezeh, Zadeh-Vakili, Azita, Najmabadi, Hossein
Pubblicazione 2011

Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications

di Ghasemi Firouzabadi, Saghar, Vameghi, Roshanak, Kariminejad, Roxana, Darvish, Hossein, Banihashemi, Susan, Firouzkouhi Moghaddam, Mahboubeh, Jamali, Peyman, Farbod Mofidi Tehrani, Hassan, Dehghani, Hossein, Raeisoon, Mohammad Reza, Narooie-Nejad, Mehrnaz, Jamshidi, Javad, Tafakhori, Abbas, Sadabadi, Saeid, Behjati, Farkhondeh
Pubblicato in Int J Mol Cell Med (2016)

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies

di Mohammadzadeh, Akbar, Akbaroghli, Susan, Aghaei-Moghadam, Ehsan, Mahdieh, Nejat, Badv, Reza Shervin, Jamali, Payman, Kariminejad, Roxana, Chavoshzadeh, Zahra, Ghasemi Firouzabadi, Saghar, Mansour Ghanaie, Roxana, Nozari, Ahoura, Banihashemi, Sussan, Hadipour, Fatemeh, Hadipour, Zahra, Kariminejad, Ariana, Najmabadi, Hossein, Shafeghati, Yousef, Behjati, Farkhondeh
Pubblicato in Cell J (2019)

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic M...

di Behjati, Farkhondeh, Ghasemi Firouzabadi, Saghar, Sajedi, Firoozeh, Kahrizi, Kimia, Najafi, Mostafa, Ebrahimizade Ghasemlou, Behruz, Shafeghati, Yousef, Behnia, Fatemeh, Mohammadi Arya, Ali Reza, Karimi, Hossein, Hadipour, Fatemeh, Hadipour, Zahra, Jamali, Peyman, Kariminejad, Roxana, Darvish, Hossein, Bahman, Ideh, Bagherizadeh, Eiman, Najmabadi, Hossein, Vameghi, Roshanak
Pubblicazione 2013

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

di Husain, Ralf A., Grimmel, Mona, Wagner, Matias, Hennings, J. Christopher, Marx, Christian, Feichtinger, René G., Saadi, Abdelkrim, Rostásy, Kevin, Radelfahr, Florentine, Bevot, Andrea, Döbler-Neumann, Marion, Hartmann, Hans, Colleaux, Laurence, Cordts, Isabell, Kobeleva, Xenia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Besse, Arnaud, Ng, Andy Cheuk-Him, Chiang, Diana, Bolduc, Francois, Tafakhori, Abbas, Mane, Shrikant, Ghasemi Firouzabadi, Saghar, Huebner, Antje K., Buchert, Rebecca, Beck-Woedl, Stefanie, Müller, Amelie J., Laugwitz, Lucia, Nägele, Thomas, Wang, Zhao-Qi, Strom, Tim M., Sturm, Marc, Meitinger, Thomas, Klockgether, Thomas, Riess, Olaf, Klopstock, Thomas, Brandl, Ulrich, Hübner, Christian A., Deschauer, Marcus, Mayr, Johannes A., Bonnen, Penelope E., Krägeloh-Mann, Ingeborg, Wortmann, Saskia B., Haack, Tobias B.
Pubblicato in Am J Hum Genet (2020)

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

di Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan
Pubblicato in Brain (2021)