未登录 Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia HPDL中的双等位基因变体导致纯的和复杂的遗传性痉挛性截瘫 Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Muller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P.; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Kuepper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M., Jr.; Lewis, Richard A.; Millan, Francisca; Duman, Ozgur; Dundar, Nihal; Uyanik, Gokhan; Schols, Ludger; Nuernberg, Peter; Nuernberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Glaeser, Dieter; Huettel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Zuchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schuele, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan 分享 收藏
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration Jurkute, Neringa; Leu, Costin; Pogoda, Hans-Martin; Arno, Gavin; Robson, Anthony G.; Nuernberg, Gudrun; Altmueller, Janine; Thiele, Holger; Motameny, Susanne; Toliat, Mohammad Reza; Powell, Kate; Hoehne, Wolfgang; Michaelides, Michel; Webster, Andrew R.; Moore, Anthony T.; Hammerschmidt, Matthias; Nuernberg, Peter; Yu-Wai-Man, Patrick; Votruba, Marcela 分享 收藏
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73 C末端无义突变将PTPRQ与常染色体显性听力损失DFNA73联系起来 Eisenberger, Tobias; Di Donato, Nataliya; Decker, Christian; Delle Vedove, Andrea; Neuhaus, Christine; Nuernberg, Gudrun; Toliat, Mohammad; Nuernberg, Peter; Muerbe, Dirk; Bolz, Hanno Joern 分享 收藏
Dysfunction of the MDM2/p53 axis is linked to premature aging Lessel, Davor; Wu, Danyi; Trujillo, Carlos; Ramezani, Thomas; Lessel, Ivana; Alwasiyah, Mohammad K.; Saha, Bidisha; Hisama, Fuki M.; Rading, Katrin; Goebel, Ingrid; Schuetz, Petra; Speit, Guenter; Hoegel, Josef; Thiele, Holger; Nuernberg, Gudrun; Nuernberg, Peter; Hammerschmidt, Matthias; Zhu, Yan; Tong, David R.; Katz, Chen; Martin, George M.; Oshima, Junko; Prives, Carol; Kubisch, Christian 分享 收藏
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction Fazeli, Walid; Herkenrath, Peter; Stiller, Barbara; Neugebauer, Antje; Fricke, Julia; Lang-Roth, Ruth; Nuernberg, Gudrun; Thoenes, Michaela; Becker, Jutta; Altmueller, Janine; Volk, Alexander E.; Kubisch, Christian; Heller, Raoul 分享 收藏
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula Khan, Arif O.; Becirovic, Elvir; Betz, Christian; Neuhaus, Christine; Altmueller, Janine; Riedmayr, Lisa Maria; Motameny, Susanne; Nuernberg, Gudrun; Nuernberg, Peter; Bolz, Hanno J. 分享 收藏
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis Riessland, Markus; Kaczmarek, Anna; Schneider, Svenja; Swoboda, Kathryn J.; Loehr, Heiko; Bradler, Cathleen; Grysko, Vanessa; Dimitriadi, Maria; Hosseinibarkooie, Seyyedmohsen; Torres-Benito, Laura; Peters, Miriam; Upadhyay, Aaradhita; Biglari, Nasim; Kroeber, Sandra; Hoelker, Irmgard; Garbes, Lutz; Gilissen, Christian; Hoischen, Alexander; Nuernberg, Gudrun; Nuernberg, Peter; Walter, Michael; Rigo, Frank; Bennett, C. Frank; Kye, Min Jeong; Hart, Anne C.; Hammerschmidt, Matthias; Kloppenburg, Peter; Wirth, Brunhilde 分享 收藏
Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness Hessler, Nicole; Geisel, Marie Henrike; Coassin, Stefan; Erbel, Raimund; Heilmann, Stefanie; Hennig, Frauke; Hoffmann, Barbara; Joeckel, Karl-Heinz; Moebus, Susanne; Moskau-Hartmann, Susanna; Nuernberg, Gudrun; Nuernberg, Peter; Vens, Maren; Klockgether, Thomas; Kronenberg, Florian; Scherag, Andre; Ziegler, Andreas 分享 收藏
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 Boegershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Huelya; Becker, Jutta; Thoenes, Michaela; Simsek-Kiper, Pelin OEzlem; Barat-Houari, Mouna; Elcioglu, Nursel H.; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M.; Fabre, Aurelie; Baynam, Gareth; Sanchez, Elodie; Nuernberg, Gudrun; Altunoglu, Umut; Capri, Yline; Isidor, Bertrand; Lacombe, Didier; Corsini, Carole; Cormier-Daire, Valerie; Sanlaville, Damien; Giuliano, Fabienne; Le Quan Sang, Kim-Hanh; Kayirangwa, Honorine; Nuernberg, Peter; Meitinger, Thomas; Boduroglu, Koray; Zoll, Barbara; Lyonnet, Stanislas; Tzschach, Andreas; Verloes, Alain; Di Donato, Nataliya; Touitou, Isabelle; Netzer, Christian; Li, Yun; Genevieve, David; Yigit, Goekhan; Wollnik, Bernd 分享 收藏
Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study 更新四个独立样本中与颈动脉内膜中层厚度相关的常见变异的效应估计: Bonn IMT家庭研究，Heinz Nixdorf召回研究，SAPHIR研究和Bruneck研究 Geisel, Marie H.; Coassin, Stefan; Hessler, Nicole; Bauer, Marcus; Eisele, Lewin; Erbel, Raimund; Haun, Margot; Hennig, Frauke; Moskau-Hartmann, Susanna; Hoffmann, Barbara; Joeckel, Karl-Heinz; Kedenko, Lyudmyla; Kiechl, Stefan; Kollerits, Barbara; Mahabadi, Amir-Abbas; Moebus, Susanne; Nuernberg, Gudrun; Nuernberg, Peter; Paulweber, Bernhard; Vens, Maren; Willeit, Johann; Willeit, Karin; Klockgether, Thomas; Ziegler, Andreas; Scherag, Andre; Kronenberg, Florian 分享 收藏
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice Spielmann, Malte; Kakar, Naseebullah; Tayebi, Naeimeh; Leettola, Catherine; Nuernberg, Gudrun; Sowada, Nadine; Lupianez, Dario G.; Harabula, Izabela; Floettmann, Ricarda; Horn, Denise; Chan, Wing Lee; Wittler, Lars; Yilmaz, Ruestem; Altmueller, Janine; Thiele, Holger; van Bokhoven, Hans; Schwartz, Charles E.; Nuernberg, Peter; Bowie, James U.; Ahmad, Jamil; Kubisch, Christian; Mundlos, Stefan; Borck, Guntram 分享 收藏
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly Zaki, Maha S.; Heller, Raoul; Thoenes, Michaela; Nuernberg, Gudrun; Stern-Schneider, Gabi; Nuernberg, Peter; Karnati, Srikanth; Swan, Daniel; Fateen, Ekram; Nagel-Wolfrum, Kerstin; Mostafa, Mostafa I.; Thiele, Holger; Wolfrum, Uwe; Baumgart-Vogt, Eveline; Bolz, Hanno J. 分享 收藏
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family Szczepanski, Sandra; Hussain, Muhammad Sajid; Sur, Ilknur; Altmueller, Janine; Thiele, Holger; Abdullah, Uzma; Waseem, Syeda Seema; Moawia, Abubakar; Nuernberg, Gudrun; Noegel, Angelika Anna; Baig, Shahid Mahmood; Nuernberg, Peter 分享 收藏
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) Stephen, Louise A.; Tawamie, Hasan; Davis, Gemma M.; Tebbe, Lars; Nuernberg, Peter; Nuernberg, Gudrun; Thiele, Holger; Thoenes, Michaela; Boltshauser, Eugen; Uebe, Steffen; Rompel, Oliver; Reis, Andre; Ekici, Arif B.; McTeir, Lynn; Fraser, Amy M.; Hall, Emma A.; Mill, Pleasantine; Daudet, Nicolas; Cross, Courtney; Wolfrum, Uwe; Abou Jamra, Rami; Davey, Megan G.; Bolz, Hanno J. 分享 收藏
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) Thoenes, Michaela; Zimmermann, Ulrike; Ebermann, Inga; Ptok, Martin; Lewis, Morag A.; Thiele, Holger; Morlot, Susanne; Hess, Markus M.; Gal, Andreas; Eisenberger, Tobias; Bergmann, Carsten; Nuernberg, Gudrun; Nuernberg, Peter; Steel, Karen P.; Knipper, Marlies; Bolz, Hanno Joern 分享 收藏
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene Elsayed, Solaf M.; Phillips, Jennifer B.; Heller, Raoul; Thoenes, Michaela; Elsobky, Ezzat; Nuernberg, Gudrun; Nuernberg, Peter; Seland, Saskia; Ebermann, Inga; Altmueller, Janine; Thiele, Holger; Toliat, Mohammad; Koerber, Friederike; Hu, Xue-Jia; Wu, Yun-Dong; Zaki, Maha S.; Abdel-Salam, Ghada; Gleeson, Joseph; Boltshauser, Eugen; Westerfield, Monte; Bolz, Hanno J. 分享 收藏
Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome Hussain, Muhammad Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat, Mohammad Reza; Sakakibara, Shin-ichi; Altmueller, Janine; Thiele, Holger; Nuernberg, Gudrun; Moosa, Shahida; Yigit, Goekhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart, Jill E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Noegel, Angelika Anna; Newman, William G.; Nuernberg, Peter 分享 收藏
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy Martin, Carol-Anne; Ahmad, Ilyas; Klingseisen, Anna; Hussain, Muhammad Sajid; Bicknell, Louise S.; Leitch, Andrea; Nuernberg, Gudrun; Toliat, Mohammad Reza; Murray, Jennie E.; Hunt, David; Khan, Fawad; Ali, Zafar; Tinschert, Sigrid; Ding, James; Keith, Charlotte; Harley, Margaret E.; Heyn, Patricia; Mueller, Rolf; Hoffmann, Ingrid; Cormier-Daire, Valerie; Dollfus, Helene; Dupuis, Lucie; Bashamboo, Anu; McElreavey, Kenneth; Kariminejad, Ariana; Mendoza-Londono, Roberto; Moore, Anthony T.; Saggar, Anand; Schlechter, Catie; Weleber, Richard; Thiele, Holger; Altmueller, Janine; Hoehne, Wolfgang; Hurles, Matthew E.; Noegel, Angelika Anna; Baig, Shahid Mahmood; Nuernberg, Peter; Jackson, Andrew P. 分享 收藏
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features Lessel, Davor; Vaz, Bruno; Halder, Swagata; Lockhart, Paul J.; Marinovic-Terzic, Ivana; Lopez-Mosqueda, Jaime; Philipp, Melanie; Sim, Joe C. H.; Smith, Katherine R.; Oehler, Judith; Cabrera, Elisa; Freire, Raimundo; Pope, Kate; Nahid, Amsha; Norris, Fiona; Leventer, Richard J.; Delatycki, Martin B.; Barbi, Gotthold; von Ameln, Simon; Hoegel, Josef; Degoricija, Marina; Fertig, Regina; Burkhalter, Martin D.; Hofmann, Kay; Thiele, Holger; Altmueller, Janine; Nuernberg, Gudrun; Nuernberg, Peter; Bahlo, Melanie; Martin, George M.; Aalfs, Cora M.; Oshima, Junko; Terzic, Janos; Amor, David J.; Dikic, Ivan; Ramadan, Kristijan; Kubisch, Christian 分享 收藏
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome 常染色体隐性POLR1D突变与TCOF1 mRNA的减少是Treacher Collins综合征的原因 Schaefer, Elise; Collet, Corinne; Genevieve, David; Vincent, Marie; Lohmann, Dietmar R.; Sanchez, Elodie; Bolender, Chantal; Eliot, Marie-Madeleine; Nuernberg, Gudrun; Passos-Bueno, Maria-Rita; Wieczorek, Dagmar; Van Maldergem, Lionel; Doray, Berenice 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png)
ATHEROSCLEROSIS.png)
.png){kind=icon}
分享.png){kind=icon}
收藏