未登录Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients (vol 41, pg 1633, 2021)
Hashem, Hasan; Bucciol, Giorgia; Ozen, Seza; Unal, Sule; Bozkaya, Ikbal Ok; Akarsu, Nurten; Taskinen, Mervi; Koskenvuo, Minna; Saarela, Janna; Dimitrova, Dimana; Hickstein, Dennis D.; Hsu, Amy P.; Holland, Steven M.; Krance, Robert; Sasa, Ghadir; Kumar, Ashish R.; Mueller, Ingo; de Sousa, Monica Abreu; Delafontaine, Selket; Moens, Leen; Babor, Florian; Barzaghi, Federica; Cicalese, Maria Pia; Bredius, Robbert; van Montfrans, Joris; Baretta, Valentina; Cesaro, Simone; Stepensky, Polina; Benedicte, Neven; Moshous, Despina; Le Guenno, Guillaume; Boutboul, David; Dalal, Jignesh; Brooks, Joel P.; Dokmeci, Elif; Dara, Jasmeen; Lucas, Carrie L.; Hambleton, Sophie; Wilson, Keith; Jolles, Stephen; Koc, Yener; Gungor, Tayfun; Schnider, Caroline; Candotti, Fabio; Steinmann, Sandra; Schulz, Ansgar; Chambers, Chip; Hershfield, Michael; Ombrello, Amanda; Kanakry, Jennifer A.; Meyts, Isabelle .png)
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收藏Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients造血干细胞移植治疗腺苷脱氨酶2缺乏症30例报告Hashem, Hasan; Bucciol, Giorgia; Ozen, Seza; Unal, Sule; Bozkaya, Ikbal Ok; Akarsu, Nurten; Taskinen, Mervi; Koskenvuo, Minna; Saarela, Janna; Dimitrova, Dimana; Hickstein, Dennis D.; Hsu, Amy P.; Holland, Steven M.; Krance, Robert; Sasa, Ghadir; Kumar, Ashish R.; Muller, Ingo; de Sousa, Monica Abreu; Delafontaine, Selket; Moens, Leen; Babor, Florian; Barzaghi, Federica; Cicalese, Maria Pia; Bredius, Robbert; van Montfrans, Joris; Baretta, Valentina; Cesaro, Simone; Stepensky, Polina; Benedicte, Neven; Moshous, Despina; Le Guenno, Guillaume; Boutboul, David; Dalal, Jignesh; Brooks, Joel P.; Dokmeci, Elif; Dara, Jasmeen; Lucas, Carrie L.; Hambleton, Sophie; Wilson, Keith; Jolles, Stephen; Koc, Yener; Gungor, Tayfun; Schnider, Caroline; Candotti, Fabio; Steinmann, Sandra; Schulz, Ansgar; Chambers, Chip; Hershfield, Michael; Ombrello, Amanda; Kanakry, Jennifer A.; Meyts, Isabelle 分享 收藏 Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyWong, 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; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, 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; Isikay, 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 分享 收藏 Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (vol 108, pg 1301, 2021)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; Cimen, Deniz Ugurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Laine, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yilmaz, Elanur; Xue, Shifeng; Coon, Joshua J.; Thanh Thao Nguyen Ly; 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; Ikay, Sedat Is Comma; 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 分享 收藏 分享 收藏 Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1抑癌基因BRCA1纯合无义突变的生存机制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 分享 收藏 Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like featuresCarapito, Raphael; Konantz, Martina; Paillard, Catherine; Miao, Zhichao; Pichot, Angelique; Leduc, Magalie S.; Yang, Yaping; Bergstrom, Katie L.; Mahoney, Donald H.; Shardy, Deborah L.; Alsaleh, Ghada; Naegely, Lydie; Kolmer, Aline; Paul, Nicodeme; Hanauer, Antoine; Rolli, Veronique; Mueller, Joelle S.; Alghisi, Elisa; Sauteur, Loic; Macquin, Cecile; Morlon, Aurore; Sancho, Consuelo Sebastia; Amati-Bonneau, Patrizia; Procaccio, Vincent; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Osmani, Nael; Lefebvre, Olivier; Goetz, Jacky G.; Unal, Sule; Akarsu, Nurten A.; Radosavljevic, Mirjana; Chenard, Marie-Pierre; Rialland, Fanny; Grain, Audrey; Bene, 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 分享 收藏 Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndromeDincer, Tuba; Yorgancioglu-Budak, Gulden; Olmez, Akgun; Er, Idris; Dodurga, Yavuz; Ozdemir, Ozmert M. A.; Toraman, Bayram; Yildirim, Adem; Sabir, Nuran; Akarsu, Nurten A.; Semerci, C. Nur; Kalay, Ersan 分享 收藏 Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 SignalingCetinkaya, Arda; Xiong, Jingwei Rachel; Vargel, Ibrahim; Kosemehmetoglu, Kemal; Canter, Halil Ibrahim; Gerdan, Omer 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, Sevket; Sagiroglu, Mahmut Samil; Takahashi, Tokiharu; Reversade, Bruno; Akarsu, Nurten Ayse 分享 收藏 Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association与破坏寡聚化和细胞骨架关联的纯合CORO1A突变相关的复发性病毒感染Yee, Christina S.; Massaad, Michel J.; Bainter, Wayne; Ohsumi, Toshiro K.; Foeger, Niko; Chan, Andrew C.; Akarsu, Nurten A.; Aytekin, Caner; Ayvaz, Deniz Cagdas; Tezcan, Ilhan; Sanal, Ozden; Geha, Raif S.; Chou, Janet 分享 收藏 CRIM1 haploinsufficiency causes defects in eye development in human and mouseBeleggia, Filippo; Li, Yun; Fan, Jieqing; Elcioglu, Nursel H.; Toker, Ebru; Wieland, Thomas; Maumenee, Irene H.; Akarsu, Nurten A.; Meitinger, Thomas; Strom, Tim M.; Lang, Richard; Wollnik, Bernd 分享 收藏 Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin TypeMalik, 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 分享 收藏 Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmiaSemerci, C. Nur; Kalay, Ersan; Yildirim, Cem; Dincer, Tuba; Olmez, Akgun; Toraman, Bayram; Kocyigit, Ali; Bulgu, Yunus; Okur, Volkan; Satiroglu-Tufan, Lale; Akarsu, Nurten A. 分享 收藏 Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and ZebrafishAsharani, P. V.; Keupp, Katharina; Semler, Oliver; Wang, Wenshen; Li, Yun; Thiele, Holger; Yigit, Goekhan; Pohl, Esther; Becker, Jutta; Frommolt, Peter; Sonntag, Carmen; Altmueller, Janine; Zimmermann, Katharina; Greenspan, Daniel S.; Akarsu, Nurten A.; Netzer, Christian; Schoenau, Eckhard; Wirth, Radu; Hammerschmidt, Matthias; Nuernberg, Peter; Wollnik, Bernd; Carney, Thomas J. 分享 收藏 Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium SyndromeKalay, 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. 分享 收藏 Disruption of PTPRO Causes Childhood-Onset Nephrotic SyndromePTPRO的破坏导致儿童期发作的肾病综合征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, Aysin 分享 收藏 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesPutoux, Audrey; Thomas, Sophie; Coene, Karlien L. M.; Davis, Erica E.; Alanay, Yasemin; Ogur, Gonul; Uz, Elif; Buzas, Daniela; Gomes, Celine; Patrier, Sophie; Bennett, Christopher L.; Elkhartoufi, Nadia; Saint Frison, Marie-Helene; Rigonnot, Luc; Joye, Nicole; Pruvost, Solenn; Utine, Gulen Eda; Boduroglu, Koray; Nitschke, Patrick; Fertitta, Laura; Thauvin-Robinet, Christel; Munnich, Arnold; Cormier-Daire, Valerie; Hennekam, Raoul; Colin, Estelle; Akarsu, Nurten Ayse; Bole-Feysot, Christine; Cagnard, Nicolas; Schmitt, Alain; Goudin, Nicolas; Lyonnet, Stanislas; Encha-Razavi, Ferechte; Siffroi, Jean-Pierre; Winey, Mark; Katsanis, Nicholas; Gonzales, Marie; Vekemans, Michel; Beales, Philip L.; Attie-Bitach, Tania 分享 收藏 Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular DystrophyGundesli, Hulya; Talim, Beril; Korkusuz, Petek; Balci-Hayta, Burcu; Cirak, Sebahattin; Akarsu, Nurten A.; Topaloglu, Haluk; Dincer, Pervin 分享 收藏 Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal DysplasiaUz, 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. 分享 收藏 Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis ImperfectaAlanay, Yasemin; Avaygan, Hrispima; Camacho, Natalia; Utine, G. Eda; Boduroglu, Koray; Aktas, Dilek; Alikasifoglu, Mehmet; Tuncbilek, Ergul; Orhan, Diclehan; Bakar, Filiz Tiker; Zabel, Bernard; Superti-Furga, Andrea; Bruckner-Tuderman, Leena; Curry, Cindy J. R.; Pyott, Shawna; Byers, Peter H.; Eyre, David R.; Baldridge, Dustin; Lee, Brendan; Merrill, Amy E.; Davis, Elaine C.; Cohn, Daniel H.; Akarsu, Nurten; Krakow, Deborah 分享 收藏 
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