Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

Autor Shaaban, Sherin, Duzcan, Fusun, Yildirim, Cem, Chan, Wai-Man, Andrews, Caroline, Akarsu, Nurten A., Engle, Elizabeth C
Vydáno 2013

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

Autor Gundesli, Hulya, Talim, Beril, Korkusuz, Petek, Balci-Hayta, Burcu, Cirak, Sebahattin, Akarsu, Nurten A., Topaloglu, Haluk, Dincer, Pervin
Vydáno 2010

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

Autor Kalay, Ersan, Sezgin, Orhan, Chellappa, Vasant, Mutlu, Mehmet, Morsy, Heba, Kayserili, Hulya, Kreiger, Elmar, Cansu, Aysegul, Toraman, Bayram, Abdalla, Ebtesam Mohammed, Aslan, Yakup, Pillai, Shiv, Akarsu, Nurten A.
Vydáno 2012

Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Autor Malik, Sajid, Percin, Ferda E., Bornholdt, Dorothea, Albrecht, Beate, Percesepe, Antonio, Koch, Manuela C., Landi, Antonio, Fritz, Barbara, Khan, Rizwan, Mumtaz, Sara, Akarsu, Nurten A., Grzeschik, Karl-Heinz
Vydáno v Am J Hum Genet (2014)

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

Autor Dinçer, Tuba, Yorgancıoğlu-Budak, Gülden, Ölmez, Akgün, Er, İdris, Dodurga, Yavuz, Özdemir, Özmert MA, Toraman, Bayram, Yıldırım, Adem, Sabir, Nuran, Akarsu, Nurten A, Semerci, C Nur, Kalay, Ersan
Vydáno v Eur J Hum Genet (2017)

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Autor Beleggia, Filippo, Li, Yun, Fan, Jieqing, Elciog˘lu, Nursel H., Toker, Ebru, Wieland, Thomas, Maumenee, Irene H., Akarsu, Nurten A., Meitinger, Thomas, Strom, Tim M., Lang, Richard, Wollnik, Bernd
Vydáno v Hum Mol Genet (2015)

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Autor Yee, Christina S., Massaad, Michel J., Bainter, Wayne, Ohsumi, Toshiro K., Föger, Niko, Chan, Andrew C., Akarsu, Nurten A., Aytekin, Caner, Ayvaz, Deniz Çagdas, Tezcan, Ilhan, Sanal, Özden, Geha, Raif S., Chou, Janet
Vydáno v J Allergy Clin Immunol (2015)

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

Autor Ozaltin, Fatih, Ibsirlioglu, Tulin, Taskiran, Ekim Z., Baydar, Dilek Ertoy, Kaymaz, Figen, Buyukcelik, Mithat, Kilic, Beltinge Demircioglu, Balat, Ayse, Iatropoulos, Paraskevas, Asan, Esin, Akarsu, Nurten A., Schaefer, Franz, Yilmaz, Engin, Bakkaloglu, Ayşin
Vydáno 2011

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Autor Uz, Elif, Alanay, Yasemin, Aktas, Dilek, Vargel, Ibrahim, Gucer, Safak, Tuncbilek, Gokhan, von Eggeling, Ferdinand, Yilmaz, Engin, Deren, Ozgur, Posorski, Nicole, Ozdag, Hilal, Liehr, Thomas, Balci, Sevim, Alikasifoglu, Mehmet, Wollnik, Bernd, Akarsu, Nurten A.
Vydáno 2010

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

Autor Asharani, P.V., Keupp, Katharina, Semler, Oliver, Wang, Wenshen, Li, Yun, Thiele, Holger, Yigit, Gökhan, Pohl, Esther, Becker, Jutta, Frommolt, Peter, Sonntag, Carmen, Altmüller, Janine, Zimmermann, Katharina, Greenspan, Daniel S., Akarsu, Nurten A., Netzer, Christian, Schönau, Eckhard, Wirth, Radu, Hammerschmidt, Matthias, Nürnberg, Peter, Wollnik, Bernd, Carney, Thomas J.
Vydáno 2012

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

Autor Keupp, Katharina, Li, Yun, Vargel, Ibrahim, Hoischen, Alexander, Richardson, Rebecca, Neveling, Kornelia, Alanay, Yasemin, Uz, Elif, Elcioğlu, Nursel, Rachwalski, Martin, Kamaci, Soner, Tunçbilek, Gökhan, Akin, Burcu, Grötzinger, Joachim, Konas, Ersoy, Mavili, Emin, Müller-Newen, Gerhard, Collmann, Hartmut, Roscioli, Tony, Buckley, Michael F, Yigit, Gökhan, Gilissen, Christian, Kress, Wolfram, Veltman, Joris, Hammerschmidt, Matthias, Akarsu, Nurten A, Wollnik, Bernd
Vydáno 2013

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Autor Carapito, Raphael, Konantz, Martina, Paillard, Catherine, Miao, Zhichao, Pichot, Angélique, Leduc, Magalie S., Yang, Yaping, Bergstrom, Katie L., Mahoney, Donald H., Shardy, Deborah L., Alsaleh, Ghada, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Rolli, Véronique, Müller, Joëlle S., Alghisi, Elisa, Sauteur, Loïc, Macquin, Cécile, Morlon, Aurore, Sancho, Consuelo Sebastia, Amati-Bonneau, Patrizia, Procaccio, Vincent, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Osmani, Naël, Lefebvre, Olivier, Goetz, Jacky G., Unal, Sule, Akarsu, Nurten A., Radosavljevic, Mirjana, Chenard, Marie-Pierre, Rialland, Fanny, Grain, Audrey, Béné, Marie-Christine, Eveillard, Marion, Vincent, Marie, Guy, Julien, Faivre, Laurence, Thauvin-Robinet, Christel, Thevenon, Julien, Myers, Kasiani, Fleming, Mark D., Shimamura, Akiko, Bottollier-Lemallaz, Elodie, Westhof, Eric, Lengerke, Claudia, Isidor, Bertrand, Bahram, Seiamak
Vydáno v J Clin Invest (2017)

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Autor Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Uğurlu Çi̇men, Deniz, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Ly, Thanh Thao Nguyen, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., Reversade, Bruno
Vydáno v Am J Hum Genet (2021)

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Autor Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Çïmen, Deniz Uğurlu, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Nguyen Ly, Thanh Thao, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., Reversade, Bruno
Vydáno v Am J Hum Genet (2021)