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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 |
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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 |
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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 |
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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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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: 272853.0 |
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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 |
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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry |
Authors: Olbrich, Heike; Häffner, Karsten; Kispert, Andreas; Völkel, Alexander; Volz, Andreas; Sasmaz, Gürsel; Reinhardt, Richard; Hennig, Steffen; Lehrach, Hans; Konietzko, Nikolaus; Zariwala, Maimoona; Noone, Peadar G.; Knowles, Michael; Mitchison, Hannah M.; Meeks, Maggie; Chung, Eddie M. K.; Hildebrandt, Friedhelm; Sudbrak, Ralf; Omran, Heymut | Date of Publication (YYYY-MM-DD): 2002-01-14 | Title of Journal: Nature Genetics | Volume: 30 | Issue / Number: 2 | Start Page: 143 | End Page: 144 | Document Type: Article | ID: 24560.0 |
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