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Entries: 1-10  
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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
Authors: Dougherty, Gerard W; Loges, Niki T; Klinkenbusch, Judith A; Olbrich, Heike; Pennekamp, Petra; Menchen, Tabea; Raidt, Johanna; Wallmeier, Julia; Werner, Claudius; Westermann, Cordula; Ruckert, Christian; Mirra, Virginia; Hjeij, Rim; Memari, Yasin; Durbin, Richard; Kolb-Kokocinski, Anja; Praveen, Kavita; Kashef, Mohammad A; Kashef, Sara; Eghtedari, Fardin; Häffner, Karsten; Valmari, Pekka; Baktai, György; Aviram, Micha; Bentur, Lea; Amirav, Israel; Davis, Erica E; Katsanis, Nicholas; Brueckner, Martina; Shaposhnykov, Artem; Pigino, Gaia; Dworniczak, Bernd; Omran, Heymut
Date of Publication (YYYY-MM-DD): 2016
Title of Journal: American Journal of Respiratory Cell and Molecular Biology
Volume: 55
Issue / Number: 2
Start Page: 213
End Page: 224
Document Type: Article
ID: 732451.0
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
Authors: Loges, Niki Tomas; Olbrich, Heike; Becker-Heck, Anita; Häffner, Karsten; Heer, Angelina; Reinhard, Christina; Schmidts, Miriam; Kispert, Andreas; Zariwala, Maimoona A.; Leigh, Margaret W.; Knowles, Michael R.; Zentgraf, Hanswalter; Seithe, Horst; Nürnberg, Gudrun; Nürnberg, Peter; Reinhardt, Richard; Omran, Heymut
Date of Publication (YYYY-MM-DD): 2009-11-25
Title of Journal: American Journal of Human Genetics
Volume: 85
Issue / Number: 6
Start Page: 883
End Page: 889
Document Type: Article
ID: 460301.0
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
 
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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
 
Full text / Content available
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
 
Full text / Content available
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
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Authors: Otto, Edgar A; Loeys, Bart; Khanna, Hemant; Hellemans, Jan; Sudbrak, Ralf; Fan, Shuling; Muerb, Ulla; O'Toole, John F; Helou, Juliana; Attanasio, Massimo; Utsch, Boris; Sayer, John A; Lillo, Concepcion; Jimeno, David; Coucke, Paul; De Paepe, Anne; Reinhard, Richard; Klages, Sven; Tsuda, Motoyuki; Kawakami, Isao; Kusakabe, Takehiro; Omran, Heymut; Imm, Anita; Tippens, Melissa; Raymond, Pamela A; Hill, Jo; Beales, Phil; He, Shirley; Kispert, Andreas; Margolis, Benjamin; Williams, David S.; Swaroop, Anand; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-02-20
Title of Journal: Nature Genetics
Volume: 37
Issue / Number: 3
Start Page: 282
End Page: 288
Document Type: Article
ID: 272850.0
 
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Entries: 1-10  
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