Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Matloob Azam"'
Autor:
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed 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 B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson
Publikováno v:
eLife, Vol 4 (2015)
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to i
Externí odkaz:
https://doaj.org/article/c3d923b71f264930947bb9ecf4abf7f9
Publikováno v:
Journal of Human Genetics. 65:493-496
Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare, recessively inherited neurological condition frequently involving insensitivity to pain. The subtype, HSAN2A, results from mutations in the gene WNK1. We identified a consanguine
Publikováno v:
Journal of human genetics. 65(5)
Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare, recessively inherited neurological condition frequently involving insensitivity to pain. The subtype, HSAN2A, results from mutations in the gene WNK1. We identified a consanguine
Autor:
Xiaoxu Yang, Martin W. Breuss, Samia A. Temtamy, Joshua D. Green, Matloob Azam, Bryan J. Traynor, Laila Bastaki, Danica Ross, Lu Wang, Laila Selim, Hanan I Elbastawisy, Amal Alhashem, Shereen G. Ghosh, Valentina Stanley, Joseph G. Gleeson, Maha S. Zaki
Publikováno v:
J Med Genet
Journal of medical genetics, vol 57, iss 4
Journal of medical genetics, vol 57, iss 4
BackgroundProtein disulfide isomerase (PDI) proteins are part of the thioredoxin protein superfamily. PDIs are involved in the formation and rearrangement of disulfide bonds between cysteine residues during protein folding in the endoplasmic reticulu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc763239e5761421bb8d500f1fa2fd96
https://europepmc.org/articles/PMC7405652/
https://europepmc.org/articles/PMC7405652/
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:
Tawfeg Ben-Omran, Anide Johansen, John B. Vincent, Iltaf Ahmed, Bernt Popp, Rasim Ozgur Rosti, Ricardo Harripaul, Matloob Azam, Tipu Sultan, Peter John, André Reis, Rami Abou Jamra, Ahmet Okay Caglayan, Evan Sticca, Tawfiq Froukh, Joseph G. Gleeson, Muhammad Ayub, Maha S. Zaki, Damir Musaev
The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e3843dbad827dfa5c2211d1984f6d3
https://avesis.deu.edu.tr/publication/details/10f6a203-469b-449a-8282-5c8cf9864124/oai
https://avesis.deu.edu.tr/publication/details/10f6a203-469b-449a-8282-5c8cf9864124/oai
Autor:
S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi
Publikováno v:
International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genet
Publikováno v:
The International Journal of Psychiatry in Medicine. 38:195-201
Background:Breath holding spells (BHS) are apparently frightening events occurring in otherwise healthy children. Generally, no medical treatment is recommended and parental reassurance is believed to be enough, however, severe BHS can be very stress
Autor:
Faruk Incecik, Brian David Dynlacht, Enza Maria Valente, Ji Eun Lee, Susanne Roosing, Eric Scott, Brett Copeland, Colin A. Johnson, Trey Ideker, Renato Borgatti, Isabella Moroni, William B. Dobyns, Petter Strømme, Pedro Aza-Blanc, Joseph G. Gleeson, Rasim Ozgur Rosti, Susanne Heynen-Genel, Maja Steinlin, Eugen Boltshauser, Joon Kim, Elide Miccinilli, Joanne Milisa-Drautz, Stefano D'Arrigo, Keith K. Vaux, Carol L. Clericuzio, M. Mirabelli-Badenier, Romina Romaniello, Enrico Bertini, Tommaso Mazza, Michael Freilinger, Sehyun Kim, Matan Hofree, Maha S. Zaki, Jennifer L. Silhavy, Kathryn J. Swoboda, Mohamed A Mikati, Rose-Mary Boustany, Marta Romani, Friedhelm Hildebrandt, Stacey Gabriel, Franco Stanzial, Matloob Azam, Jana Schroth, Francesco Emma
Publikováno v:
eLife
eLife, Vol 4 (2015)
Elife, 4, pp. e06602
Elife, 4, e06602
eLife, Vol 4 (2015)
Elife, 4, pp. e06602
Elife, 4, e06602
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359f8be153ac449deb2036ec1d14aaaf
Autor:
Trey Ideker, Isabella Moroni, Colin A. Johnson, Pedro Aza-Blanc, Renato Borgatti, Stefano D'Arrigo, Keith K. Vaux, Enza Maria Valente, Susanne Heynen-Genel, Elide Miccinilli, Sehyun Kim, Petter Strømme, Joanne Milisa-Drautz, Matan Hofree, Franco Stanzial, Rose-Mary Boustany, Jennifer L. Silhavy, Carol L. Clericuzio, Eugen Boltshauser, Maja Steinlin, Enrico Bertini, Tommaso Mazza, Brian David Dynlacht, Stacey Gabriel, Susanne Roosing, Brett Copeland, Mohamed A Mikati, Romina Romaniello, Rasim Ozgur Rosti, Eric Scott, Jana Schroth, Kathryn J. Swoboda, Michael Freilinger, William B. Dobyns, Matloob Azam, Friedhelm Hildebrandt, Francesco Emma, Joon Kim, Jieun Lee, Marta Romani, M. Mirabelli-Badenier, Maha S. Zaki, Joseph G. Gleeson, Faruk Incecik
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef3162743bcda8497599079af2ef203c
https://doi.org/10.7554/elife.06602.021
https://doi.org/10.7554/elife.06602.021