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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