Results
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21.
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Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil. [electronic resource] by
- Olm, Mary Anne Kowal
- Marson, Fernando Augusto Lima
- Athanazio, Rodrigo Abensur
- Nakagawa, Naomi Kondo
- Macchione, Mariangela
- Loges, Niki Tomas
- Omran, Heymut
- Rached, Samia Zahi
- Bertuzzo, Carmen Sílvia
- Stelmach, Rafael
- Saldiva, Paulo Hilário Nascimento
- Ribeiro, José Dirceu
- Jones, Marcus Herbert
- Mauad, Thais
Producer: 20201026
In:
Scientific reports vol. 9
Availability: No items available.
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22.
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. [electronic resource] by
- Schwabe, Georg C
- Hoffmann, Katrin
- Loges, Niki Tomas
- Birker, Daniel
- Rossier, Colette
- de Santi, Margherita M
- Olbrich, Heike
- Fliegauf, Manfred
- Failly, Mike
- Liebers, Uta
- Collura, Mirella
- Gaedicke, Gerhard
- Mundlos, Stefan
- Wahn, Ulrich
- Blouin, Jean-Louis
- Niggemann, Bodo
- Omran, Heymut
- Antonarakis, Stylianos E
- Bartoloni, Lucia
Producer: 20080207
In:
Human mutation vol. 29
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23.
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DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. [electronic resource] by
- 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
Producer: 20060829
In:
American journal of respiratory and critical care medicine vol. 174
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24.
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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. [electronic resource] by
- Paff, Tamara
- Loges, Niki T
- Aprea, Isabella
- Wu, Kaman
- Bakey, Zeineb
- Haarman, Eric G
- Daniels, Johannes M A
- Sistermans, Erik A
- Bogunovic, Natalija
- Dougherty, Gerard W
- Höben, Inga M
- Große-Onnebrink, Jörg
- Matter, Anja
- Olbrich, Heike
- Werner, Claudius
- Pals, Gerard
- Schmidts, Miriam
- Omran, Heymut
- Micha, Dimitra
Producer: 20170524
In:
American journal of human genetics vol. 100
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25.
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Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. [electronic resource] by
- 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
Producer: 20090106
In:
Nature vol. 456
Availability: No items available.
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26.
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DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. [electronic resource] by
- 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
- Zietkiewicz, Ewa
- Neesen, Juergen
- Reinhardt, Richard
- Mitchison, Hannah M
- Omran, Heymut
Producer: 20090106
In:
American journal of human genetics vol. 83
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27.
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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. [electronic resource] by
- Becker-Heck, Anita
- Zohn, Irene E
- Okabe, Noriko
- Pollock, Andrew
- Lenhart, Kari Baker
- Sullivan-Brown, Jessica
- McSheene, Jason
- Loges, Niki T
- Olbrich, Heike
- Haeffner, Karsten
- Fliegauf, Manfred
- Horvath, Judith
- Reinhardt, Richard
- Nielsen, Kim G
- Marthin, June K
- Baktai, Gyorgy
- Anderson, Kathryn V
- Geisler, Robert
- Niswander, Lee
- Omran, Heymut
- Burdine, Rebecca D
Producer: 20110222
In:
Nature genetics vol. 43
Availability: No items available.
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28.
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Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. [electronic resource] by
- Olbrich, Heike
- Schmidts, Miriam
- Werner, Claudius
- Onoufriadis, Alexandros
- Loges, Niki T
- Raidt, Johanna
- Banki, Nora Fanni
- Shoemark, Amelia
- Burgoyne, Tom
- Al Turki, Saeed
- Hurles, Matthew E
- Köhler, Gabriele
- Schroeder, Josef
- Nürnberg, Gudrun
- Nürnberg, Peter
- Chung, Eddie M K
- Reinhardt, Richard
- Marthin, June K
- Nielsen, Kim G
- Mitchison, Hannah M
- Omran, Heymut
Producer: 20130317
In:
American journal of human genetics vol. 91
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29.
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TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. [electronic resource] by
- Wallmeier, Julia
- Shiratori, Hidetaka
- Dougherty, Gerard W
- Edelbusch, Christine
- Hjeij, Rim
- Loges, Niki T
- Menchen, Tabea
- Olbrich, Heike
- Pennekamp, Petra
- Raidt, Johanna
- Werner, Claudius
- Minegishi, Katsura
- Shinohara, Kyosuke
- Asai, Yasuko
- Takaoka, Katsuyoshi
- Lee, Chanjae
- Griese, Matthias
- Memari, Yasin
- Durbin, Richard
- Kolb-Kokocinski, Anja
- Sauer, Sascha
- Wallingford, John B
- Hamada, Hiroshi
- Omran, Heymut
Producer: 20170509
In:
American journal of human genetics vol. 99
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30.
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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. [electronic resource] by
- Höben, Inga M
- Hjeij, Rim
- Olbrich, Heike
- Dougherty, Gerard W
- Nöthe-Menchen, Tabea
- Aprea, Isabella
- Frank, Diana
- Pennekamp, Petra
- Dworniczak, Bernd
- Wallmeier, Julia
- Raidt, Johanna
- Nielsen, Kim G
- Philipsen, Maria C
- Santamaria, Francesca
- Venditto, Laura
- Amirav, Israel
- Mussaffi, Huda
- Prenzel, Freerk
- Wu, Kaman
- Bakey, Zeineb
- Schmidts, Miriam
- Loges, Niki T
- Omran, Heymut
Producer: 20181211
In:
American journal of human genetics vol. 102
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31.
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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. [electronic resource] by
- Frommer, Adrien
- Hjeij, Rim
- Loges, Niki T
- Edelbusch, Christine
- Jahnke, Charlotte
- Raidt, Johanna
- Werner, Claudius
- Wallmeier, Julia
- Große-Onnebrink, Jörg
- Olbrich, Heike
- Cindrić, Sandra
- Jaspers, Martine
- Boon, Mieke
- Memari, Yasin
- Durbin, Richard
- Kolb-Kokocinski, Anja
- Sauer, Sascha
- Marthin, June K
- Nielsen, Kim G
- Amirav, Israel
- Elias, Nael
- Kerem, Eitan
- Shoseyov, David
- Haeffner, Karsten
- Omran, Heymut
Producer: 20151231
In:
American journal of respiratory cell and molecular biology vol. 53
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32.
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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. [electronic resource] by
- Loges, Niki T
- Antony, Dinu
- Maver, Ales
- Deardorff, Matthew A
- Güleç, Elif Yýlmaz
- Gezdirici, Alper
- Nöthe-Menchen, Tabea
- Höben, Inga M
- Jelten, Lena
- Frank, Diana
- Werner, Claudius
- Tebbe, Johannes
- Wu, Kaman
- Goldmuntz, Elizabeth
- Čuturilo, Goran
- Krock, Bryan
- Ritter, Alyssa
- Hjeij, Rim
- Bakey, Zeineb
- Pennekamp, Petra
- Dworniczak, Bernd
- Brunner, Han
- Peterlin, Borut
- Tanidir, Cansaran
- Olbrich, Heike
- Omran, Heymut
- Schmidts, Miriam
Producer: 20190514
In:
American journal of human genetics vol. 103
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33.
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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. [electronic resource] by
- Knowles, Michael R
- Leigh, Margaret W
- Carson, Johnny L
- Davis, Stephanie D
- Dell, Sharon D
- Ferkol, Thomas W
- Olivier, Kenneth N
- Sagel, Scott D
- Rosenfeld, Margaret
- Burns, Kimberlie A
- Minnix, Susan L
- Armstrong, Michael C
- Lori, Adriana
- Hazucha, Milan J
- Loges, Niki T
- Olbrich, Heike
- Becker-Heck, Anita
- Schmidts, Miriam
- Werner, Claudius
- Omran, Heymut
- Zariwala, Maimoona A
Producer: 20120829
In:
Thorax vol. 67
Availability: No items available.
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34.
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Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. [electronic resource] by
- Wallmeier, Julia
- Al-Mutairi, Dalal A
- Chen, Chun-Ting
- Loges, Niki Tomas
- Pennekamp, Petra
- Menchen, Tabea
- Ma, Lina
- Shamseldin, Hanan E
- Olbrich, Heike
- Dougherty, Gerard W
- Werner, Claudius
- Alsabah, Basel H
- Köhler, Gabriele
- Jaspers, Martine
- Boon, Mieke
- Griese, Matthias
- Schmitt-Grohé, Sabina
- Zimmermann, Theodor
- Koerner-Rettberg, Cordula
- Horak, Elisabeth
- Kintner, Chris
- Alkuraya, Fowzan S
- Omran, Heymut
Producer: 20140808
In:
Nature genetics vol. 46
Availability: No items available.
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35.
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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. [electronic resource] by
- Boon, Mieke
- Wallmeier, Julia
- Ma, Lina
- Loges, Niki Tomas
- Jaspers, Martine
- Olbrich, Heike
- Dougherty, Gerard W
- Raidt, Johanna
- Werner, Claudius
- Amirav, Israel
- Hevroni, Avigdor
- Abitbul, Revital
- Avital, Avraham
- Soferman, Ruth
- Wessels, Marja
- O'Callaghan, Christopher
- Chung, Eddie M K
- Rutman, Andrew
- Hirst, Robert A
- Moya, Eduardo
- Mitchison, Hannah M
- Van Daele, Sabine
- De Boeck, Kris
- Jorissen, Mark
- Kintner, Chris
- Cuppens, Harry
- Omran, Heymut
Producer: 20160426
In:
Nature communications vol. 5
Availability: No items available.
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36.
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Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. [electronic resource] by
- Zariwala, Maimoona A
- Leigh, Margaret W
- Ceppa, Franck
- Kennedy, Marcus P
- Noone, Peadar G
- Carson, Johnny L
- Hazucha, Milan J
- Lori, Adriana
- Horvath, Judit
- Olbrich, Heike
- Loges, Niki T
- Bridoux, Anne-Marie
- Pennarun, Gaëlle
- Duriez, Bénédicte
- Escudier, Estelle
- Mitchison, Hannah M
- Chodhari, Rahul
- Chung, Eddie M K
- Morgan, Lucy C
- de Iongh, Robbert U
- Rutland, Jonathan
- Pradal, Ugo
- Omran, Heymut
- Amselem, Serge
- Knowles, Michael R
Producer: 20061107
In:
American journal of respiratory and critical care medicine vol. 174
Availability: No items available.
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37.
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. [electronic resource] by
- Panizzi, Jennifer R
- Becker-Heck, Anita
- Castleman, Victoria H
- Al-Mutairi, Dalal A
- Liu, Yan
- Loges, Niki T
- Pathak, Narendra
- Austin-Tse, Christina
- Sheridan, Eamonn
- Schmidts, Miriam
- Olbrich, Heike
- Werner, Claudius
- Häffner, Karsten
- Hellman, Nathan
- Chodhari, Rahul
- Gupta, Amar
- Kramer-Zucker, Albrecht
- Olale, Felix
- Burdine, Rebecca D
- Schier, Alexander F
- O'Callaghan, Christopher
- Chung, Eddie M K
- Reinhardt, Richard
- Mitchison, Hannah M
- King, Stephen M
- Omran, Heymut
- Drummond, Iain A
Producer: 20120803
In:
Nature genetics vol. 44
Availability: No items available.
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38.
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ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. [electronic resource] by
- Hjeij, Rim
- Lindstrand, Anna
- Francis, Richard
- Zariwala, Maimoona A
- Liu, Xiaoqin
- Li, You
- Damerla, Rama
- Dougherty, Gerard W
- Abouhamed, Marouan
- Olbrich, Heike
- Loges, Niki T
- Pennekamp, Petra
- Davis, Erica E
- Carvalho, Claudia M B
- Pehlivan, Davut
- Werner, Claudius
- Raidt, Johanna
- Köhler, Gabriele
- Häffner, Karsten
- Reyes-Mugica, Miguel
- Lupski, James R
- Leigh, Margaret W
- Rosenfeld, Margaret
- Morgan, Lucy C
- Knowles, Michael R
- Lo, Cecilia W
- Katsanis, Nicholas
- Omran, Heymut
Producer: 20131217
In:
American journal of human genetics vol. 93
Availability: No items available.
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39.
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Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices. [electronic resource] by
- Abitbul, Revital
- Amirav, Israel
- Blau, Hannah
- Alkrinawi, Soliman
- Aviram, Micha
- Shoseyov, David
- Bentur, Lea
- Avital, Avraham
- Springer, Chaim
- Lavie, Moran
- Prais, Dario
- Dabbah, Husein
- Elias, Nael
- Elizur, Arnon
- Goldberg, Shmuel
- Hevroni, Avigdor
- Kerem, Eitan
- Luder, Anthony
- Roth, Yehudah
- Cohen-Cymberknoh, Malena
- Ben Ami, Marta
- Mandelberg, Avigdor
- Livnat, Galit
- Picard, Elie
- Rivlin, Joseph
- Rotschild, Moshe
- Soferman, Ruth
- Loges, Niki T
- Olbrich, Heike
- Werner, Claudius
- Wolter, Alexander
- Herting, Martina
- Wallmeier, Julia
- Raidt, Johanna
- Omran, Heymut
- Mussaffi, Huda
Producer: 20180116
In:
Respiratory medicine vol. 119
Availability: No items available.
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40.
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Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities. [electronic resource] by
- Amirav, Israel
- Roduta Roberts, Mary
- Mussaffi, Huda
- Mandelberg, Avigdor
- Roth, Yehudah
- Abitbul, Revital
- Luder, Anthony
- Blau, Hannah
- Alkrinawi, Soliman
- Aviram, Micha
- Ben-Ami, Marta
- Rotschild, Moshe
- Bentur, Lea
- Shoseyov, David
- Cohen-Cymberknoh, Malena
- Kerem, Eitan
- Avital, Avraham
- Springer, Chaim
- Hevroni, Avigdor
- Dabbah, Husein
- Elizur, Arnon
- Picard, Elie
- Goldberg, Shmuel
- Rivlin, Joseph
- Livnat, Galit
- Lavie, Moran
- Alias, Nael
- Soferman, Ruth
- Olbrich, Heike
- Raidt, Johanna
- Wallmeier, Julia
- Werner, Claudius
- Loges, Niki T
- Omran, Heymut
Publication details: F1000Research 2016
In:
F1000Research vol. 5
Availability: No items available.
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