Search Results - Rasim Özgür Rosti

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  1. 1
    Primary cilia in neurodevelopmental disorders

    Primary cilia in neurodevelopmental disorders by Enza Maria Valente, Rasim Özgür Rosti, Elizabeth M. Gibbs, Joseph G. Gleeson

    Published 2013
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  2. 2
    Teratogenicity of Antiepileptic Drugs

    Teratogenicity of Antiepileptic Drugs by Betül Tekin Güveli, Rasim Özgür Rosti, Alper Güzeltaş, Elif Bahar Tuna, Dilek Ataklı, Serra Sencer, Ensar Yekeler, Hülya Kayserili, Ahmet Dırıcan, Nerses Bebek, Betül Baykan, Ayşen Gökyiğit, Candan Gürses

    Published 2017
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  3. 3
    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

    A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features by Isaac Marin‐Valencia, Gaia Novarino, Anide Johansen, Başak Rosti, Mahmoud Y. Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L. Silhavy, Valentina Stanley, Rasim Özgür Rosti, Jeremy W Gleeson, Farhad Imam, Maha S. Zaki, Joseph G. Gleeson

    Published 2017
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  4. 4
    Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

    Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly by Martin W. Breuss, Tipu Sultan, Kiely N. James, Rasim Özgür Rosti, Eric Scott, Damir Musaev, Bansri Furia, André Reis, Heinrich Sticht, Mohammed Al‐Owain, Fowzan S. Alkuraya, Miriam S. Reuter, Rami Abou Jamra, Christopher R. Trotta, Joseph G. Gleeson

    Published 2016
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  5. 5
    Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

    Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly by Lu Wang, Zhen Li, David Sievert, Desirée E.C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen G. Ghosh, Yulu Wang, Majdi Kara, Ayça Dilruba Aslanger, Rasim Özgür Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson

    Published 2020
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  6. 6
    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features by Anide Johansen, Rasim Özgür Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha S. Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben‐Omran, John B. Vincent, Joseph G. Gleeson, Rami Abou Jamra

    Published 2016
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  7. 7
    Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

    Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly by Hongda Li, Stephanie Bielas, Maha S. Zaki, Samira Ismail, Dorit Farfara, Kyongmi Um, Rasim Özgür Rosti, Eric Scott, Shu Tu, C. Neil, Stacey B. Gabriel, Emine Zeynep Erson-Omay, A. Gulhan Ercan‐Sencicek, Katsuhito Yasuno, Ahmet Okay Çağlayan, Hande Kaymakçalan, Barış Ekici, Kaya Bilgüvar, Murat Günel, Joseph G. Gleeson

    Published 2016
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  8. 8
    Mutations in CSPP1 Lead to Classical Joubert Syndrome

    Mutations in CSPP1 Lead to Classical Joubert Syndrome by Naiara Akizu, Jennifer L. Silhavy, Rasim Özgür Rosti, Eric Scott, Ali G. Fenstermaker, Jana Schroth, Maha S. Zaki, Henry Sánchez, Neerja Gupta, Madhulika Kabra, Majdi Kara, Tawfeg Ben‐Omran, Başak Rosti, Alicia Guemez‐Gamboa, Emily Spencer, Roger Pan, Na Cai, Mostafa Abdellateef, Stacey Gabriel, Jan Halbritter, Friedhelm Hildebrandt, Hans van Bokhoven, Murat Günel, Joseph G. Gleeson

    Published 2013
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  9. 9
    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome by Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang, Maha S. Zaki, Majdi Kara, Tawfeg Ben‐Omran, Naiara Akizu, Rasim Özgür Rosti, Başak Rosti, Eric Scott, Jana Schroth, Brett Copeland, Keith K. Vaux, Amaury Cazenave‐Gassiot, Debra Q Y Quek, Bernice H. Wong, Bryan C. Tan, Markus R. Wenk, Murat Günel, Stacey Gabriel, C. Neil, David L. Silver, Joseph G. Gleeson

    Published 2015
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  10. 10
    Mutations in<i>CEP120</i>cause Joubert syndrome as well as complex ciliopathy phenotypes

    Mutations in<i>CEP120</i>cause Joubert syndrome as well as complex ciliopathy phenotypes by Susanne Roosing, Marta Romani, Mala Isrie, Rasim Özgür Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al‐Gazali, Umut Altunoğlu, Eugen Boltshauser, Stefano D’Arrigo, B. De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R. Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Dua Puri, Hilde Van Esch, Joseph G. Gleeson, Enza Maria Valente

    Published 2016
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  11. 11
    Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

    Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies by Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati, Marina V. Kisseleva, Lihadh Al‐Gazali, László Sztriha, Riad Bayoumi, Maha S. Zaki, Alice Abdel Aleem, Rasim Özgür Rosti, Hülya Kayserili, Dominika Swistun, Lesley C. Scott, Enrico Bertini, Eugen Boltshauser, Elisa Fazzi, Lorena Travaglini, Seth J. Field, Stéphanie Gayral, Monique Jacoby, Stéphane Schurmans, Bruno Dallapiccola, Philip W. Majerus, Enza Maria Valente, Joseph G. Gleeson

    Published 2009
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  12. 12
    AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

    AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder by Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith K. Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma Müjgan Sönmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Albaradie, Eissa Faqeih, Mohammed A. Saleh, Emily Spencer, Rasim Özgür Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson

    Published 2013
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  13. 13
    CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

    CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration by Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hülya Kayserili, Katsuhito Yasuno, Rasim Özgür Rosti, Mostafa Abdellateef, Caner Çağlar, Paul R. Kasher, J. Leonie Cazemier, Marian A. J. Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoğlu, N. Bilge Satkin, Fesih Aktar, Beyhan Tüysüz, Cengiz Yalçınkaya, Hüseyîn Çaksen, Kaya Bilgüvar, Xiang‐Dong Fu, Christopher R. Trotta, Stacey Gabriel, André Reis, Murat Günel, Frank Baas, Joseph G. Gleeson

    Published 2014
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  14. 14
    Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

    Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas by Élodie Bal, Hyun-Sook Park, Zakia Belaid-Choucair, Hülya Kayserili, Magali Naville, Marine Madrange, Elena Chiticariu, S. Hadj‐Rabia, Nicolas Cagnard, François Kuonen, Daniel Bachmann, Marcel Huber, Cindy Le Gall, Francine Côté, Sylvain Hanein, Rasim Özgür Rosti, Ayça Dilruba Aslanger, Quinten Waisfisz, Christine Bodemer, Olivier Hermine, Fanny Morice‐Picard, B. Labeille, F. Caux, J. Mazereeuw‐Hautier, Nicole Philip, Nicolas Lévy, Alain Taı̈eb, Marie-Françoise Avril, Denis J. Headon, Gàbor Gyapay, Thierry Magnaldo, Sylvie Fraitag, Hugues Roest Crollius, P. Vabres, Daniel Hohl, Arnold Münnich, Asma Smahi

    Published 2017
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  15. 15
    Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

    Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors by Ketu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E. Schaffer, Chiswili Chabu, Octavian Henegariu, Fernando Vonhoff, Gozde Akgumus, S. Nishimura, Wenqi Han, Shu Tu, Burçin Baran, Hakan Gümüş, Cengiz Dilber, Maha S. Zaki, Heba A.A. Hossni, Jean‐Baptiste Rivière, Hülya Kayserili, Emily Spencer, Rasim Özgür Rosti, Jana Schroth, Hüseyin Per, Caner Çağlar, Çağri Çağlar, Duygu Dölen, Jacob F. Baranoski, Sefer Kumandaş, Frank J. Minja, E. Zeynep Erson‐Omay, Shrikant Mane, Richard P. Lifton, Tian Xu, Haig Keshishian, William B. Dobyns, C. Neil, Nenad Šestan, Angeliki Louvi, Kaya Bilgüvar, Katsuhito Yasuno, Joseph G. Gleeson, Murat Günel

    Published 2014
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  16. 16
    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration by Ashleigh E. Schaffer, Martin W. Breuss, Ahmet Okay Çağlayan, Nouriya Al-Sanaa, Hind Y. Al-Abdulwahed, Hande Kaymakçalan, Cahide Yılmaz, Maha S. Zaki, Rasim Özgür Rosti, Brett Copeland, Seung Tae Baek, Damir Musaev, Eric Scott, Tawfeg Ben‐Omran, Ariana Kariminejad, Hülya Kayserili, Faezeh Mojahedi, Majdi Kara, Na Cai, Jennifer L. Silhavy, Seham Elsharif, Elif Fenercioğlu, Bruce A. Barshop, Bülent Kara, Rengang Wang, Valentina Stanley, Kiely N. James, Rahul Nachnani, Aneesha Kalur, Hisham Megahed, Faruk İncecik, Sumita Danda, Yasemin Alanay, Eissa Faqeih, Gia Melikishvili, Lobna Mansour, Ian Miller, Biayna Sukhudyan, Jamel Chelly, William B. Dobyns, Kaya Bilgüvar, Rami Abou Jamra, Murat Günel, Joseph G. Gleeson

    Published 2018
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  17. 17
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction by Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    Published 2015
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  18. 18
    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome by Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Özgür Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S. Zaki, Kathryn J. Swoboda, Joanne Milisa-Drautz, William B. Dobyns, Mohamad A. Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose‐Mary Boustany, Carol L. Clericuzio, Stefano D’Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A. Johnson, Michael Freilinger, Keith K. Vaux, Stacey Gabriel, Pedro Aza‐Blanc, Susanne Heynen‐Genel, Trey Ideker, Brian David Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G. Gleeson

    Published 2015
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  19. 19
    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders by Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Başak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hülya Kayserili, Jumana Y. Al‐Aama, Ghada M. H. Abdel‐Salam, Ariana Karminejad, Majdi Kara, Bülent Kara, Babak Bozorgmehri, Tawfeg Ben‐Omran, Faezeh Mojahedi, Iman G. Mahmoud, Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al‐Allawi, Parayil Sankaran Bindu, Matloob Azam, Murat Günel, Ahmet Okay Çağlayan, Kaya Bilgüvar, Aslıhan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily Spencer, Rasim Özgür Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Dürr, Alexis Brice, Giovanni Stévanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson

    Published 2014
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  20. 20
    Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer

    Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer by Andrew Webster, Mathijs A. Sanders, Krupa R. Patel, Ralf Dietrich, Raymond J. Noonan, Francis P. Lach, Ryan R. White, Audrey Goldfarb, Kevin Hadi, Matthew Edwards, Frank X. Donovan, Remco M. Hoogenboezem, Moonjung Jung, Sunandini Sridhar, Tom Wiley, Olivier Fédrigo, Huasong Tian, Joel Rosiene, Thomas E. Heineman, Jennifer A. Kennedy, Lorenzo Bean, Rasim Özgür Rosti, Rebecca Tryon, Ashlyn-Maree Gonzalez, Allana Rosenberg, Ji‐Dung Luo, Thomas S Carroll, Sanjana Shroff, Michael Beaumont, Eunike Velleuer, Jeff C. Rastatter, Susanne I. Wells, Jordi Surrallés, Grover C. Bagby, Margaret L. MacMillan, John E. Wagner, Maria Cancio, Farid Boulad, Theresa Scognamiglio, Roger A. Vaughan, Kristin G. Beaumont, Amnon Koren, Marcin Imieliński, Settara C. Chandrasekharappa, Arleen D. Auerbach, Bhuvanesh Singh, David I. Kutler, Peter J. Campbell, Agata Smogorzewska

    Published 2022
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