|
|
|
|
| Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins |
| Authors: Omran, Heymut; Kobayashi, Daisuke; Olbrich, Heike; Tsukahara, Tatsuya; Loges, Niki T.; Hagiwara, Haruo; Zhang, Qi; Leblond, Gerard; O'Toole, Eileen; Hara, Chikako; Mizuno, Hideaki; Kawano, Hiroyuki; Fliegauf, Manfred; Yagi, Toshiki; Koshida, Sumito; Miyawaki, Atsushi; Zentgraf, Hanswalter; Seithe, Horst; Reinhardt, Richard; Watanabe, Yoshinori; Kamiya, Ritsu; Mitchell, David R.; Takeda, Hiroyuki | | Date of Publication (YYYY-MM-DD): 2008-12-04 | | Title of Journal: Nature | | Volume: 456 | | Issue / Number: 7222 | | Start Page: 611 | | End Page: 616 | | Document Type: Article | | ID: 413803.0 |
|
|
|
|
|
|
|
| DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm |
| Authors: Loges, Niki Tomas; Olbrich, Heike; Fenske, Lale; Mussaffi, Huda; Horvath, Judit; Fliegauf, Manfred; Kuhl, Heiner; Baktai, Gyorgy; Peterffy, Erzsebet; Chodhari, Rahul; Chung, Eddie M.K.; Rutman, Andrew; O'Callaghan, Christopher; Blau, Hannah; Tiszlavicz, Laszlo; Voelkel, Katarzyna; Witt, Michal; Ziętkiewicz, Ewa; Neesen, Juergen; Reinhardt, Richard; Mitchison, Hannah M.; Omran, Heymut | | Date of Publication (YYYY-MM-DD): 2008-10-23 | | Title of Journal: The American Journal of Human Genetics | | Volume: 83 | | Issue / Number: 5 | | Start Page: 547 | | End Page: 558 | | Document Type: Article | | ID: 413810.0 |
|
|
|
|
|
|
|
| DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects |
| Authors: Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, Maimoona A.; Fliegauf, Manfred; Loges, Niki Tomas; Wildhaber, Johannes; Noone, Peadar G.; Kennedy, Marcus; Antonarakis, Stylianos E.; Blouin, Jean-Louis; Bartoloni, Lucia; Nüsslein, Thomas; Ahrens, Peter; Griese, Matthias; Kuhl, Heiner; Sudbrak, Ralf; Knowles, Michael R.; Reinhardt, Richard; Omran, Heymut | | Date of Publication (YYYY-MM-DD): 2006-07-15 | | Title of Journal: American Journal of Respiratory and Critical Care Medicine : an Official Journal of the American Thoracic Society, Medical Section of the Lung Association | | Volume: 174 | | Issue / Number: 2 | | Start Page: 120 | | End Page: 126 | | Document Type: Article | | ID: 305175.0 |
|
|
|
|
|
|
|
| DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects |
| Authors: Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, Maimoona A.; Fliegauf, Manfred; Loges, Niki Tomas; Wildhaber, Johannes; Noone, Peadar G.; Kennedy, Marcus; Antonarakis, Stylianos E.; Blouin, Jean-Louis; Bartoloni, Lucia; Nüsslein, Thomas; Ahrens, Peter; Griese, Matthias; Kuhl, Heiner; Sudbrak, Ralf; Knowles, Michael R.; Reinhardt, Richard; Omran, Heymut | | Date of Publication (YYYY-MM-DD): 2006-07-15 | | Title of Journal: American Journal of Respiratory and Critical Care Medicine : an Official Journal of the American Thoracic Society, Medical Section of the Lung Association | | Volume: 174 | | Issue / Number: 2 | | Start Page: 120 | | End Page: 126 | | Document Type: Article | | ID: 305187.0 |
|
|
|
|
|
|
|
| A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome |
| Authors: Budny, Bartlomiej; Chen, Wei; Omran, Heymut; Fliegauf, Manfred; Tzschach, Andreas; Wisniewska, Marzena; Jensen, Lars R.; Raynaud, Martine; Shoichet, Sarah A.; Badura, Magda; Lenzner, Steffen; Latos-Bielenska, Anna; Ropers, Hans-Hilger | | Date of Publication (YYYY-MM-DD): 2006-06-17 | | Title of Journal: Human Genetics | | Volume: 120 | | Issue / Number: 2 | | Start Page: 171 | | End Page: 178 | | Document Type: Article | | ID: 307327.0 |
|
|
|
|
|
|
|
| Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients |
| Authors: Horváth, Judit; Fliegauf, Manfred; Olbrich, Heike; Kispert, Andreas; King, Stephen M.; Mitchison, Hannah; Zariwala, Maimoona A.; Knowles, Michael R.; Sudbrak, Ralf; Fekete, György; Neesen, Juergen; Reinhardt, Richard; Omran, Heymut | | Date of Publication (YYYY-MM-DD): 2005-04-21 | | Title of Journal: American Journal of Respiratory Cell and Molecular Biology | | Volume: 33 | | Issue / Number: 1 | | Start Page: 41 | | End Page: 47 | | Document Type: Article | | ID: 271588.0 |
|
|
|
|
|
|
|
| Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients |
| Authors: Horváth, Judit; Fliegauf, Manfred; Olbrich, Heike; Kispert, Andreas; King, Stephen M.; Mitchison, Hannah; Zariwala, Maimoona A.; Knowles, Michael R.; Sudbrak, Ralf; Fekete, György; Neesen, Juergen; Reinhardt, Richard; Omran, Heymut | | Date of Publication (YYYY-MM-DD): 2005-04-21 | | Title of Journal: American Journal of Respiratory Cell and Molecular Biology | | Volume: 33 | | Issue / Number: 1 | | Start Page: 41 | | End Page: 47 | | Document Type: Article | | ID: 272953.0 |
|
|
|
|
|
|
|
| Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis |
| Authors: Olbrich, Heike; Fliegauf, Manfred; Hoefele, Julia; Kispert, Andreas; Otto, Edgar; Volz, Andreas; Wolf, Matthias T.; Sasmaz, Gürsel; Trauer, Ute; Reinhardt, Richard; Sudbrak, Ralf; Antignac, Corinne; Gretz, Norbert; Walz, Gerd; Schermer, Bernhard; Benzing, Thomas; Hildebrandt, Friedhelm; Omran, Heymut | | Date of Publication (YYYY-MM-DD): 2003-08 | | Title of Journal: Nature Genetics | | Volume: 34 | | Issue / Number: 4 | | Start Page: 455 | | End Page: 459 | | Document Type: Article | | ID: 173903.0 |
|
|
|
The scope and number of records on eDoc is subject
to the collection policies defined by each institute
- see "info" button in the collection browse view.
|
|
Advanced
