Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling von Cetinkaya, Arda, Xiong, Jingwei Rachel, Vargel, İbrahim, Kösemehmetoğlu, Kemal, Canter, Halil İbrahim, Gerdan, Ömer Faruk, Longo, Nicola, Alzahrani, Ahmad, Camps, Mireia Perez, Taskiran, Ekim Zihni, Laupheimer, Simone, Botto, Lorenzo D., Paramalingam, Eeswari, Gormez, Zeliha, Uz, Elif, Yuksel, Bayram, Ruacan, Şevket, Sağıroğlu, Mahmut Şamil, Takahashi, Tokiharu, Reversade, Bruno, Akarsu, Nurten Ayse

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes von Putoux, Audrey, Thomas, Sophie, Coene, Karlien L M, Davis, Erica E, Alanay, Yasemin, Ogur, Gönül, Uz, Elif, Buzas, Daniela, Gomes, Céline, Patrier, Sophie, Bennett, Christopher L, Elkhartoufi, Nadia, Frison, Marie-Hélène Saint, Rigonnot, Luc, Joyé, Nicole, Pruvost, Solenn, Utine, Gulen Eda, Boduroglu, Koray, Nitschke, Patrick, Fertitta, Laura, Thauvin-Robinet, Christel, Munnich, Arnold, Cormier-Daire, Valérie, Hennekam, Raoul, Colin, Estelle, Akarsu, Nurten Ayse, Bole-Feysot, Christine, Cagnard, Nicolas, Schmitt, Alain, Goudin, Nicolas, Lyonnet, Stanislas, Encha-Razavi, Férechté, Siffroi, Jean-Pierre, Winey, Mark, Katsanis, Nicholas, Gonzales, Marie, Vekemans, Michel, Beales, Philip L, Attié-Bitach, Tania

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Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants von Yüksel Ülker, Aylin, Uludağ Alkaya, Dilek, Elkanova, Leyla, Şeker, Ali, Akpınar, Evren, Akarsu, Nurten Ayşe, Uyguner, Zehra Oya, Tüysüz, Beyhan

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ALX4 dysfunction disrupts craniofacial and epidermal development von Kayserili, Hulya, Uz, Elif, Niessen, Carien, Vargel, Ibrahim, Alanay, Yasemin, Tuncbilek, Gokhan, Yigit, Gokhan, Uyguner, Oya, Candan, Sukru, Okur, Hamza, Kaygin, Serkan, Balci, Sevim, Mavili, Emin, Alikasifoglu, Mehmet, Haase, Ingo, Wollnik, Bernd, Akarsu, Nurten Ayse

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Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis von Dökmeci-Emre, Serap, Taşkıran, Zihni Ekim, Yüzbaşıoğlu, Ayşe, Önal, Gizem, Akarsu, Ayşe Nurten, Karaduman, Ayşen, Özgüç, Meral

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Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives von Pekgül, Faruk, Eroğlu-Ertuğrul, Nesibe Gevher, Bekircan-Kurt, Can Ebru, Erdem-Ozdamar, Sevim, Çetinkaya, Arda, Tan, Ersin, Konuşkan, Bahadır, Karaağaoğlu, Ergun, Topçu, Meral, Akarsu, Nurten Ayşe, Oguz, Kader K., Anlar, Banu, Özkara, Hatice Asuman

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Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1 von Seo, Aaron, Steinberg-Shemer, Orna, Unal, Sule, Casadei, Silvia, Walsh, Tom, Gumruk, Fatma, Shalev, Stavit, Shimamura, Akiko, Akarsu, Nurten Ayse, Tamary, Hannah, King, Mary-Claire

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A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma von Mehmet, Demirel, Unal, Sule, Gumruk, Fatma, Akarsu, Nurten Ayse

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Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling von Arda Cetinkaya, Jingwei Rachel Xiong, İbrahim Vargel, Kemal Kösemehmetoğlu, Halil İbrahim Canter, Ömer Faruk Gerdan, Nicola Longo, Ahmad Alzahrani, Mireia Perez Camps, Ekim Zihni Taşkıran, Simone Laupheimer, Lorenzo D Botto, Eeswari Paramalingam, Zeliha Gormez, Elif Uz, Bayram Yuksel, Şevket Ruacan, Mahmut Şamil Sağıroğlu, Takahashi, Tokiharu, Bruno Reversade, Nurten Ayse Akarsu

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TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia von Alanay, Yasemin, Ergüner, Bekir, Utine, Eda, Haçarız, Orçun, Kiper, Pelin Ozlem Simsek, Taşkıran, Ekim Zihni, Perçin, Ferda, Uz, Elif, Sağıroğlu, Mahmut Şamil, Yuksel, Bayram, Boduroglu, Koray, Akarsu, Nurten Ayse

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Cytogenetic and phenotypic findings in Turkish patients with Fanconi's anemia von ILGIN, Hatice, AKARSU, Ayşe Nurten, BÖKESOY, Fatma Işık

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Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome von 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

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

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

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Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation von Mansur, Ayse Tulin, Elcioglu, Nursel H., Redler, Silke, Serdar, Zehra A., Cetinel, Sule, Betz, Regina C., Akarsu, Nurten A.

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BIGH3 Gene Analysis in the Differential Diagnosis of Corneal Dystrophies von Kocak-Altintas, Ayse Gül, Kocak-Midillioglu, Inci, Akarsu, A Nurten, Duman, Sunay

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Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation von Mansur, Ayse Tulin, Elcioglu, Nursel H., Redler, Silke, Serdar, Zehra A., Cetinel, Sule, Betz, Regina C., Akarsu, Nurten A.

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