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收藏分享 收藏 Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱
Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan 分享 收藏 分享 收藏 Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas (vol 23, pg 1226, 2017)ACTRT1及其增强子RNA元件的突变导致遗传性和散发性基底细胞癌中Hedgehog信号通路的异常激活（卷23，页1226，2017）。Bal, Elodie; Park, Hyun-Sook; Belaid-Choucair, Zakia; Kayserili, Huelya; Naville, Magali; Madrange, Marine; Chiticariu, Elena; Hadj-Rabia, Smail; Cagnard, Nicolas; Kuonen, Francois; Bachmann, Daniel; Huber, Marcel; Le Gall, Cindy; Cote, Francine; Hanein, Sylvain; Rosti, Rasim oezguer; Aslanger, Ayca Dilruba; Waisfisz, Quinten; Bodemer, Christine; Hermine, Olivier; Morice-Picard, Fanny; Labeille, Bruno; Caux, Frederic; Mazereeuw-Hautier, Juliette; Philip, Nicole; Levy, Nicolas; Taieb, Alain; Avril, Marie-Francoise; Headon, Denis J.; Gyapay, Gabor; Magnaldo, Thierry; Fraitag, Sylvie; Crollius, Hugues Roest; Vabres, Pierre; Hohl, Daniel; Munnich, Arnold; Smahi, Asma 分享 收藏 ARTICLE DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformationsLavillaureix, Alinoe; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carre, Wilfrid; Guyodo, Helene; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quelin, Chloe; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott D.; Kayserili, Hulya; Altunoglu, Umut; Chong, Angie En Qi; Xue, Shifeng; Jeanne, Mederic; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora-Dupont, Eleonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Jamra, Rami Abou; Mittendorf, Luise; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christele; Odent, Sylvie; Dupe, Valerie 分享 收藏 Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosisAltunoglu, Umut; Palencia-Campos, Adrian; Gunes, Nilay; Turgut, Gozde Tutku; Nevado, Julian; Lapunzina, Pablo; Valencia, Maria; Iturrate, Asier; Otaify, Ghada; Elhossini, Rasha; Ashour, Adel; K. Amin, Asmaa; Elnahas, Rania F.; Fernandez-Nunez, Elisa; Flores, Carmen-Lisset; Arias, Pedro; Tenorio, Jair; Chamorro Fernandez, Carlos Israel; Guven, Yeliz; Ozsu, Elif; Eklioglu, Beray Selver; Ibarra-Ramirez, Marisol; Diness, Birgitte Rode; Burnyte, Birute; Ajmi, Houda; Yuksel, Zafer; Yildirim, Ruken; Unal, Edip; Abdalla, Ebtesam; Aglan, Mona; Kayserili, Hulya; Tuysuz, Beyhan; Ruiz-Perez, Victor 分享 收藏 Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementLacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Gonzalez, Vanesa Lopez; Menke, Leonie A.; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A.; Tooke, Lloyd; van der Zee, Jill A.; Van Genderen, Maria M.; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H. M.; Cueto-Gonzalez, Anna M.; Dominguez-Garrido, Elena; Duijkers, Floor A.; Fergelot, Patricia; Halstead, Elisabeth; Huisman, Sylvia A.; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M.; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Pena, Rebecca Rodriguez; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N.; Smith, David F.; Stevens, Markus F.; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Palafoll, Irene Valenzuena; van der Kaay, Danielle C. M.; Van Wijk, Michiel P.; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C. 分享 收藏 Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiationTheil, Arjan F.; Pines, Alex; Kalayci, Tugba; Heredia-Genestar, Jose M.; Raams, Anja; Rietveld, Marion H.; Sridharan, Sriram; Tanis, Sabine E. J.; Mulder, Klaas W.; Bueyuekbabani, Nesimi; Karaman, Birsen; Uyguner, Zehra O.; Kayserili, Huelya; Hoeijmakers, Jan H. J.; Lans, Hannes; Demmers, Jeroen A. A.; Pothof, Joris; Altunoglu, Umut; El Ghalbzouri, Abdoelwaheb; Vermeulen, Wim 分享 收藏 分享 收藏 RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesisWong, Samantha; Tan, Yu Xuan; Loh, Abigail Yi Ting; Tan, Kiat Yi; Lee, Hane; Aziz, Zainab; Nelson, Stanley F.; Ozkan, Engin; Kayserili, Hülya; Escande-Beillard, Nathalie; Reversade, Bruno 分享 收藏 Clinical features of generalized lipodystrophy in Turkey: A cohort analysisYildirim Simsir, Ilgin; Tuysuz, Beyhan; Ozbek, Mehmet Nuri; Tanrikulu, Seher; Celik Guler, Merve; Karhan, Asuman Nur; Denkboy Ongen, Yasemin; Gunes, Nilay; Soyaltin, Utku Erdem; Altay, Canan; Nur, Banu; Ozalkak, Servan; Akgun Dogan, Ozlem; Dursun, Fatma; Pekkolay, Zafer; Eren, Mehmet Ali; Usta, Yusuf; Ozisik, Secil; Ozgen Saydam, Basak; Adiyaman, Suleyman Cem; Unal, Mehmet Cagri; Gungor Semiz, Gokcen; Turan, Ihsan; Eren, Erdal; Kayserili, Hulya; Jeru, Isabelle; Vigouroux, Corinne; Atik, Tahir; Onay, Huseyin; Ozen, Samim; Arioglu Oral, Elif; Akinci, Baris 分享 收藏 DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signalingDPP9缺乏症: 一种可以通过降低NLRP1/IL-1信号来挽救的炎症性疾病Harapas, Cassandra R.; Robinson, Kim S.; Lay, Kenneth; Wong, Jasmine; Traspas, Ricardo Moreno; Nabavizadeh, Nasrin; Rass-Rothschild, Annick; Boisson, Bertrand; Drutman, Scott B.; Laohamonthonkul, Pawat; Bonner, Devon; Xiong, Jingwei Rachel; Gorrell, Mark D.; Davidson, Sophia; Yu, Chien-Hsiung; Fleming, Mark D.; Gudera, Jonas; Stein, Jerry; Ben-Harosh, Miriam; Groopman, Emily; Shimamura, Akiko; Tamary, Hannah; Kayserili, Hulya; Hatipoglu, Nevin; Casanova, Jean-Laurent; Bernstein, Jonathan A.; Zhong, Franklin L.; Masters, Seth L.; Reversade, Bruno 分享 收藏 Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisTraspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui-Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al-Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Bin Wu; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrao, Anabela Natalia; Karageorgou, Vasiliki; Ordonez-Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli-Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno 分享 收藏 Phenotypic and mutational spectrum of ROR2-related Robinow syndromeLima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Decio; Cano, Talyta M.; Jorge, Alexander A. L.; Kim, Chong A.; Honjo, Rachel; Bertola, Debora R.; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gulay C.; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P.; Pogue, Robert; Pereira, Rinaldo W.; Otto, Paulo A.; Gibbs, Richard A.; Ali, Bassam R.; Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R.; Vianna-Morgante, Angela M.; Carvalho, Claudia M. B.; Mazzeu, Juliana F. 分享 收藏 Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndromeMotta, Marialetizia; Solman, Maja; Bonnard, Adeline A.; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hulya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, Susanne B.; Thomas-Teinturier, Cecile; Guimier, Anne; Cordeddu, Viviana; Mazzanti, Laura; Zampino, Giuseppe; Chillemi, Giovanni; Zenker, Martin; Cave, Helene; Hertog, Jeroen; Tartaglia, Marco 分享 收藏 Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009)Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe 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 Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyKargapolova, Yulia; Rehimi, Rizwan; Kayserili, Huelya; Bruehl, Joanna; Sofiadis, Konstantinos; Zirkel, Anne; Palikyras, Spiros; Mizi, Athanasia; Li, Yun; Yigit, Goekhan; Hoischen, Alexander; Frank, Stefan; Russ, Nicole; Trautwein, Jonathan; van Bon, Bregje; Gilissen, Christian; Laugsch, Magdalena; Gusmao, Eduardo Gade; Josipovic, Natasa; Altmueller, Janine; Nuernberg, Peter; Laengst, Gernot; Kaiser, Frank J.; Watrin, Erwan; Brunner, Han; Rada-Iglesias, Alvaro; Kurian, Leo; Wollnik, Bernd; Bouazoune, Karim; Papantonis, Argyris 分享 收藏 
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