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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
The DNA sequence, annotation and analysis of human chromosome 3
Authors: Muzny, Donna M.; Scherer, Steven E.; Kaul, Rajinder; Wang, Jing; Yu, Jun; Sudbrak, Ralf; Buhay, Christian J.; Chen, Rui; Cree, Andrew; Ding, Yan; Dugan-Rocha, Shannon; Gill, Rachel; Gunaratne, Preethi; Harris, R. Alan; Hawes, Alicia C.; Hernandez, Judith; Hodgson, Anne V.; Hume, Jennifer; Jackson, Andrew; Khan, Ziad Mohid; Kovar-Smith, Christie; Lewis, Lora R.; Lozado, Ryan J.; Metzker, Michael L.; Milosavljevic, Aleksandar; Miner, George R.; Morgan, Margaret B.; Nazareth, Lynne V.; Scott, Graham; Sodergren, Erica; Song, Xing-Zhi; Steffen, David; Wei, Sharon; Wheeler, David A.; Wright, Mathew W.; Worley, Kim C.; Yuan, Ye; Zhang, Zhengdong; Adams, Charles Q.; Ansari-Lari, Ali; Ayele, Mulu; Brown, Mary J.; Chen, Guan; Chen, Zhijian; Clendenning, James; Clerc-Blankenburg, Kerstin P.; Chen, Runsheng; Chen, Zhu; Davis, Clay; Delgado, Oliver; Dinh, Huyen H.; Dong, Wei; Draper, Heather; Ernst, Stephen; Fu, Gang; Gonzalez-Garay, Manuel L.; Garcia, Dawn K; Gillett, Will; Gu, Jun; Hao, Bailin; Haugen, Eric; Havlak, Paul; He, Xin; Hennig, Steffen; Hu, Songnian; Huang, Wei; ackson, Laronda R. J; Jacob, Leni S.; Kelly, Susan H.; Kube, Michael; Levy, Ruth; Li, Zhangwan; Liu, Bin; Liu, Jing; Liu, Wen; Maheshwari, Manjula; Nguyen, Bao-Viet; Okwuonu, Geoffrey O.; Palmeiri, Anthony; Pasternak, Shiran; Perez, Lesette M.; Phelps, Karen A.; Plopper, Farah J. H.; Qiang, Boqin; Raymond, Christopher; Rodriguez, Ruben; Saenphimmachak, Channakhone; Santibanez, Jireh; Shen, Hua; Shen, Yan; Subramanian, Sandhya; Tabor, Paul E.; Verduzco, Daniel; Waldron, Lenee; Wang, Jian; Wang, Jun; Wang, Qiaoyan; Williams, Gabrielle A.; Wong, Gane K.-S.; Yao, Zhijian; Zhang, JingKun; Zhang, Xiuqing; Zhao, Guoping; Zhou, Jianling; Zhou, Yang; Nelson, David; Lehrach, Hans; Reinhardt, Richard; Naylor, Susan L.; Yang, Huanming; Olson, Maynard; Weinstock, George; Gibbs, Richard A.
Date of Publication (YYYY-MM-DD): 2006-04-27
Title of Journal: Nature
Volume: 440
Issue / Number: 7088
Start Page: 1194
End Page: 1198
Document Type: Article
ID: 305386.0
 
Full text / Content available
The DNA sequence, annotation and analysis of human chromosome 3
Authors: Muzny, Donna M.; Scherer, Steven E.; Kaul, Rajinder; Wang, Jing; Yu, Jun; Sudbrak, Ralf; Buhay, Christian J.; Chen, Rui; Cree, Andrew; Ding, Yan; Dugan-Rocha, Shannon; Gill, Rachel; Gunaratne, Preethi; Harris, R. Alan; Hawes, Alicia C.; Hernandez, Judith; Hodgson, Anne V.; Hume, Jennifer; Jackson, Andrew; Khan, Ziad Mohid; Kovar-Smith, Christie; Lewis, Lora R.; Lozado, Ryan J.; Metzker, Michael L.; Milosavljevic, Aleksandar; Miner, George R.; Morgan, Margaret B.; Nazareth, Lynne V.; Scott, Graham; Sodergren, Erica; Song, Xing-Zhi; Steffen, David; Wei, Sharon; Wheeler, David A.; Wright, Mathew W.; Worley, Kim C.; Yuan, Ye; Zhang, Zhengdong; Adams, Charles Q.; Ansari-Lari, Ali; Ayele, Mulu; Brown, Mary J.; Chen, Guan; Chen, Zhijian; Clendenning, James; Clerc-Blankenburg, Kerstin P.; Chen, Runsheng; Chen, Zhu; Davis, Clay; Delgado, Oliver; Dinh, Huyen H.; Dong, Wei; Draper, Heather; Ernst, Stephen; Fu, Gang; Gonzalez-Garay, Manuel L.; Garcia, Dawn K; Gillett, Will; Gu, Jun; Hao, Bailin; Haugen, Eric; Havlak, Paul; He, Xin; Hennig, Steffen; Hu, Songnian; Huang, Wei; ackson, Laronda R. J; Jacob, Leni S.; Kelly, Susan H.; Kube, Michael; Levy, Ruth; Li, Zhangwan; Liu, Bin; Liu, Jing; Liu, Wen; Maheshwari, Manjula; Nguyen, Bao-Viet; Okwuonu, Geoffrey O.; Palmeiri, Anthony; Pasternak, Shiran; Perez, Lesette M.; Phelps, Karen A.; Plopper, Farah J. H.; Qiang, Boqin; Raymond, Christopher; Rodriguez, Ruben; Saenphimmachak, Channakhone; Santibanez, Jireh; Shen, Hua; Shen, Yan; Subramanian, Sandhya; Tabor, Paul E.; Verduzco, Daniel; Waldron, Lenee; Wang, Jian; Wang, Jun; Wang, Qiaoyan; Williams, Gabrielle A.; Wong, Gane K.-S.; Yao, Zhijian; Zhang, JingKun; Zhang, Xiuqing; Zhao, Guoping; Zhou, Jianling; Zhou, Yang; Nelson, David; Lehrach, Hans; Reinhardt, Richard; Naylor, Susan L.; Yang, Huanming; Olson, Maynard; Weinstock, George; Gibbs, Richard A.
Date of Publication (YYYY-MM-DD): 2006-04-27
Title of Journal: Nature
Volume: 440
Issue / Number: 7088
Start Page: 1194
End Page: 1198
Document Type: Article
ID: 305404.0
 
Full text / Content available
The DNA sequence, annotation and analysis of human chromosome 3
Authors: Muzny, Donna M.; Scherer, Steven E.; Kaul, Rajinder; Wang, Jing; Yu, Jun; Sudbrak, Ralf; Buhay, Christian J.; Chen, Rui; Cree, Andrew; Ding, Yan; Dugan-Rocha, Shannon; Gill, Rachel; Gunaratne, Preethi; Harris, R. Alan; Hawes, Alicia C.; Hernandez, Judith; Hodgson, Anne V.; Hume, Jennifer; Jackson, Andrew; Khan, Ziad Mohid; Kovar-Smith, Christie; Lewis, Lora R.; Lozado, Ryan J.; Metzker, Michael L.; Milosavljevic, Aleksandar; Miner, George R.; Morgan, Margaret B.; Nazareth, Lynne V.; Scott, Graham; Sodergren, Erica; Song, Xing-Zhi; Steffen, David; Wei, Sharon; Wheeler, David A.; Wright, Mathew W.; Worley, Kim C.; Yuan, Ye; Zhang, Zhengdong; Adams, Charles Q.; Ansari-Lari, Ali; Ayele, Mulu; Brown, Mary J.; Chen, Guan; Chen, Zhijian; Clendenning, James; Clerc-Blankenburg, Kerstin P.; Chen, Runsheng; Chen, Zhu; Davis, Clay; Delgado, Oliver; Dinh, Huyen H.; Dong, Wei; Draper, Heather; Ernst, Stephen; Fu, Gang; Gonzalez-Garay, Manuel L.; Garcia, Dawn K; Gillett, Will; Gu, Jun; Hao, Bailin; Haugen, Eric; Havlak, Paul; He, Xin; Hennig, Steffen; Hu, Songnian; Huang, Wei; ackson, Laronda R. J; Jacob, Leni S.; Kelly, Susan H.; Kube, Michael; Levy, Ruth; Li, Zhangwan; Liu, Bin; Liu, Jing; Liu, Wen; Maheshwari, Manjula; Nguyen, Bao-Viet; Okwuonu, Geoffrey O.; Palmeiri, Anthony; Pasternak, Shiran; Perez, Lesette M.; Phelps, Karen A.; Plopper, Farah J. H.; Qiang, Boqin; Raymond, Christopher; Rodriguez, Ruben; Saenphimmachak, Channakhone; Santibanez, Jireh; Shen, Hua; Shen, Yan; Subramanian, Sandhya; Tabor, Paul E.; Verduzco, Daniel; Waldron, Lenee; Wang, Jian; Wang, Jun; Wang, Qiaoyan; Williams, Gabrielle A.; Wong, Gane K.-S.; Yao, Zhijian; Zhang, JingKun; Zhang, Xiuqing; Zhao, Guoping; Zhou, Jianling; Zhou, Yang; Nelson, David; Lehrach, Hans; Reinhardt, Richard; Naylor, Susan L.; Yang, Huanming; Olson, Maynard; Weinstock, George; Gibbs, Richard A.
Date of Publication (YYYY-MM-DD): 2006-04-27
Title of Journal: Nature
Volume: 440
Issue / Number: 7088
Start Page: 1194
End Page: 1198
Document Type: Article
ID: 309978.0
 
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
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
Authors: Hoefele, Julia; Sudbrak, Ralf; Reinhardt, Richard; Lehrack, Silvia; Hennig, Steffen; Imm, Anita; Muerb, Ulla; Utsch, Boris; Attanasio, Massimo; O'Toole, John F.; Otto, Edgar; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-03-17
Title of Journal: Human Mutation
Volume: 25
Issue / Number: 4
Start Page: 411
End Page: 411
Document Type: Article
ID: 271580.0
 
Full text / Content available
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
Authors: Hoefele, Julia; Sudbrak, Ralf; Reinhardt, Richard; Lehrack, Silvia; Hennig, Steffen; Imm, Anita; Muerb, Ulla; Utsch, Boris; Attanasio, Massimo; O'Toole, John F.; Otto, Edgar; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2005-03-17
Title of Journal: Human Mutation
Volume: 25
Issue / Number: 4
Start Page: 411
End Page: 411
Document Type: Article
ID: 272860.0
 
Full text / Content available
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
 
Full text / Content available
Entries: 1-10  
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