Search Results - "Bilguvar, K"

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum by Caglayan, AO, Per, H, Akgumus, G, Gumus, H, Baranoski, J, Canpolat, M, Calik, M, Yikilmaz, A, Bilguvar, K, Kumandas, S, Gunel, M

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A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity? by Degerliyurt, A, Akgumus, G, Caglar, C, Bilguvar, K, Caglayan, A O

“…Andermann syndrome is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and peripheral neuropathy (ACCPN). People affected…”
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Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome by Bayrakli, F, Bilguvar, K, Ceyhan, D, Ercan-Sencicek, AG, Cankaya, T, Bayrakli, S, Guney, I, Mane, SM, State, MW, Gunel, M

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Autoantibodies against type I IFNs in patients with life-threatening COVID-19 by Bastard, Paul, Rosen, Lindsey B, Zhang, Qian, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Zhang, Yu, Dorgham, Karim, Philippot, Quentin, Rosain, Jérémie, Béziat, Vivien, Manry, Jérémy, Shaw, Elana, Haljasmägi, Liis, Peterson, Pärt, Lorenzo, Lazaro, Bizien, Lucy, Trouillet-Assant, Sophie, Dobbs, Kerry, de Jesus, Adriana Almeida, Belot, Alexandre, Kallaste, Anne, Catherinot, Emilie, Tandjaoui-Lambiotte, Yacine, Le Pen, Jeremie, Kerner, Gaspard, Bigio, Benedetta, Seeleuthner, Yoann, Yang, Rui, Bolze, Alexandre, Spaan, András N, Delmonte, Ottavia M, Abers, Michael S, Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Piemonti, Lorenzo, Ciceri, Fabio, Bilguvar, Kaya, Lifton, Richard P, Vasse, Marc, Smadja, David M, Migaud, Mélanie, Hadjadj, Jérome, Terrier, Benjamin, Duffy, Darragh, Quintana-Murci, Lluis, van de Beek, Diederik, Roussel, Lucie, Vinh, Donald C, Tangye, Stuart G, Haerynck, Filomeen, Dalmau, David, Martinez-Picado, Javier, Brodin, Petter, Nussenzweig, Michel C, Boisson-Dupuis, Stéphanie, Rodríguez-Gallego, Carlos, Vogt, Guillaume, Mogensen, Trine H, Oler, Andrew J, Gu, Jingwen, Burbelo, Peter D, Cohen, Jeffrey I, Biondi, Andrea, Bettini, Laura Rachele, D'Angio, Mariella, Bonfanti, Paolo, Rossignol, Patrick, Mayaux, Julien, Rieux-Laucat, Frédéric, Husebye, Eystein S, Fusco, Francesca, Ursini, Matilde Valeria, Imberti, Luisa, Sottini, Alessandra, Paghera, Simone, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Duval, Xavier, Ghosn, Jade, Tsang, John S, Goldbach-Mansky, Raphaela, Kisand, Kai, Lionakis, Michail S, Puel, Anne, Zhang, Shen-Ying, Holland, Steven M, Gorochov, Guy, Jouanguy, Emmanuelle, Rice, Charles M, Cobat, Aurélie, Notarangelo, Luigi D, Abel, Laurent, Su, Helen C, Casanova, Jean-Laurent

“…Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least…”
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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy by Jin, Sheng Chih, Lewis, Sara A., Bakhtiari, Somayeh, Zeng, Xue, Sierant, Michael C., Shetty, Sheetal, Nordlie, Sandra M., Elie, Aureliane, Corbett, Mark A., Norton, Bethany Y., van Eyk, Clare L., Haider, Shozeb, Guida, Brandon S., Magee, Helen, Liu, James, Pastore, Stephen, Vincent, John B., Brunstrom-Hernandez, Janice, Papavasileiou, Antigone, Fahey, Michael C., Berry, Jesia G., Harper, Kelly, Zhou, Chongchen, Zhang, Junhui, Li, Boyang, Zhao, Hongyu, Heim, Jennifer, Webber, Dani L., Frank, Mahalia S. B., Xia, Lei, Xu, Yiran, Zhu, Dengna, Zhang, Bohao, Sheth, Amar H., Knight, James R., Castaldi, Christopher, Tikhonova, Irina R., López-Giráldez, Francesc, Keren, Boris, Whalen, Sandra, Buratti, Julien, Doummar, Diane, Cho, Megan, Retterer, Kyle, Millan, Francisca, Wang, Yangong, Waugh, Jeff L., Rodan, Lance, Cohen, Julie S., Fatemi, Ali, Lin, Angela E., Phillips, John P., Feyma, Timothy, MacLennan, Suzanna C., Vaughan, Spencer, Crompton, Kylie E., Reid, Susan M., Reddihough, Dinah S., Shang, Qing, Gao, Chao, Novak, Iona, Badawi, Nadia, Wilson, Yana A., McIntyre, Sarah J., Mane, Shrikant M., Wang, Xiaoyang, Amor, David J., Zarnescu, Daniela C., Lu, Qiongshi, Xing, Qinghe, Zhu, Changlian, Bilguvar, Kaya, Padilla-Lopez, Sergio, Lifton, Richard P., Gecz, Jozef, MacLennan, Alastair H., Kruer, Michael C.

“…In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring…”
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias by Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.

“…Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are…”
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Mutations and copy number alterations in diffuse gliomas are shaped by different mechanisms by Ozduman, K., Ulgen, E., Karacan, S., Gerlevik, U., Can, O., Bilguvar, K., Akyerli, C.B., Yuksel, S.K., Ersen-Danyeli, A., Tihan, T., Yakicier, C., Sezerman, O.U., Pamir, M.N.

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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy by Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa

“…Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern…”
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Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene by Juhlin, C. Christofer, Stenman, Adam, Haglund, Felix, Clark, Victoria E., Brown, Taylor C., Baranoski, Jacob, Bilguvar, Kaya, Goh, Gerald, Welander, Jenny, Svahn, Fredrika, Rubinstein, Jill C., Caramuta, Stefano, Yasuno, Katsuhito, Günel, Murat, Bäckdahl, Martin, Gimm, Oliver, Söderkvist, Peter, Prasad, Manju L., Korah, Reju, Lifton, Richard P., Carling, Tobias

“…As subsets of pheochromocytomas (PCCs) lack a defined molecular etiology, we sought to characterize the mutational landscape of PCCs to identify novel gene…”
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P12.06 Significantly Mutated Genes for Radiation-Associated Meningioma by Claus, E. B., Greenhalgh, S., Gaffney, S. G., Bilguvar, K., Calvocoressi, L., Lu, L., Al-Mefty, O., Zi-Ming Zhao, Z., Townsend, J. P.

“…Meningioma is the most commonly diagnosed primary brain tumor and is associated with significant morbidity. Children treated with therapeutic radiation to the…”
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Absence of KMT2D/MLL2 mutations in abdominal paraganglioma by Stenman, Adam, Juhlin, Carl C., Haglund, Felix, Brown, Taylor C., Clark, Victoria E., Svahn, Fredrika, Bilguvar, Kaya, Goh, Gerald, Korah, Reju, Lifton, Richard P., Carling, Tobias

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Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy by Per, Huseyin, Canpolat, Mehmet, Bayram, Ayşe Kaçar, Ulgen, Ege, Baran, Burçin, Kardas, Fatih, Gumus, Hakan, Kumandas, Sefer, Bilguvar, Kaya, Çağlayan, Ahmet Okay

“…Tangier disease (TD) is a rare, autosomal recessive inherited disorder caused by a mutation in the adenosine triphosphate-binding cassette transporter 1…”
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P238 – 1858 New mutations detected in primer microcephaly genes by whole-exome sequencing by Per, H, Okay Caglayan, A, Gumus, H, Bilguvar, K, Canpolat, M, Kumandas, S, Gunel, M

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P35 – 1937 A new variant detected in GRIN2A by whole-exome sequencing in a patient with intellectual disability with intractable epilepsy by Per, H, Caglayan, AO, Canpolat, M, Bilguvar, K, Gümüş, H, Kumandas, S

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Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3 by GUCLU, Bulent, OZTURK, Ali K, HASHIMOTO, Nobuo, PRICOLA, Katie L, BILGUVAR, Kaya, SHIN, Dana, O'ROAK, Brian J, GUNEL, Murat, AWAD, Issam A, SCHACKERT, Gabriele, TAKAGI, Yasushi

“…To identify the CCM3 gene in a population of 61 families with a positive family history of cerebral cavernous malformations (CCM), 8 of which had suggestive…”
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Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31 by OZTURK, Ali K, NAHED, Brian V, GUNEL, Murat, BYDON, Mohamad, BILGUVAR, Kaya, GOKSU, Ethem, BADEMCI, Gulsah, GUCLU, Bulent, JOHNSON, Michele H, AMAR, Arun, LIFTON, Richard P

“…Both environmental and genetic factors contribute to the formation, growth, and rupture of intracranial aneurysms (IAs). To search for IA susceptibility genes,…”
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OMICS AND PROGNSTIC MARKERS by Adachi, K., Sasaki, H., Nagahisa, S., Yoshida, K., Hattori, N., Nishiyama, Y., Kawase, T., Hasegawa, M., Abe, M., Hirose, Y., Alentorn, A., Marie, Y., Poggioli, S., Alshehhi, H., Boisselier, B., Carpentier, C., Mokhtari, K., Capelle, L., Figarella-Branger, D., Hoang-Xuan, K., Sanson, M., Delattre, J.-Y., Idbaih, A., Yust-Katz, S., Anderson, M., Olar, A., Eterovic, A., Ezzeddine, N., Chen, K., Zhao, H., Fuller, G., Aldape, K., de Groot, J., Andor, N., Harness, J., Lopez, S. G., Fung, T. L., Mewes, H. W., Petritsch, C., Arivazhagan, A., Somasundaram, K., Thennarasu, K., Pandey, P., Anandh, B., Santosh, V., Chandramouli, B., Hegde, A., Kondaiah, P., Rao, M., Bell, R., Kang, R., Hong, C., Song, J., Costello, J., Nagarajan, R., Zhang, B., Diaz, A., Wang, T., Bie, L., Li, Y., Liu, H., Luyo, W. F. C., Carnero, M. H., Iruegas, M. E. P., Morell, A. R., Figueiras, M. C., Lopez, R. L., Valverde, C. F., Chan, A. K.-Y., Pang, J. C.-S., Chung, N. Y.-F., Li, K. K.-W., Poon, W. S., Chan, D. T.-M., Wang, Y., Ng, H.-a. K., Chaumeil, M., Larson, P., Yoshihara, H., Vigneron, D., Nelson, S., Pieper, R., Phillips, J., Ronen, S., Clark, V., Omay, Z. E., Serin, A., Gunel, J., Omay, B., Grady, C., Youngblood, M., Bilguvar, K., Baehring, J., Piepmeier, J., Gutin, P., Vortmeyer, A., Brennan, C., Pamir, M. N., Kilic, T., Krischek, B.

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Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum by Caglayan, A O, Per, H, Akgumus, G, Gumus, H, Baranoski, J, Canpolat, M, Calik, M, Yikilmaz, A, Bilguvar, K, Kumandas, S, Gunel, M

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Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome by Bayrakli, F, Bilguvar, K, Ceyhan, D, Ercan-Sencicek, A G, Cankaya, T, Bayrakli, S, Guney, I, Mane, S M, State, M W, Gunel, M

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