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Page 1
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H. Dougherty GW, et al. Among authors: olbrich h. Am J Respir Crit Care Med. 2024 Apr 16. doi: 10.1164/rccm.202308-1370OC. Online ahead of print. Am J Respir Crit Care Med. 2024. PMID: 38626355
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H. Hornef N, et al. Among authors: olbrich h. Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. doi: 10.1164/rccm.200601-084OC. Epub 2006 Apr 20. Am J Respir Crit Care Med. 2006. PMID: 16627867 Free PMC article.
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Zariwala MA, et al. Among authors: olbrich h. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20. Am J Respir Crit Care Med. 2006. PMID: 16858015 Free PMC article.
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.
Nöthe-Menchen T, Wallmeier J, Pennekamp P, Höben IM, Olbrich H, Loges NT, Raidt J, Dougherty GW, Hjeij R, Dworniczak B, Omran H. Nöthe-Menchen T, et al. Among authors: olbrich h. Circ Genom Precis Med. 2019 Oct 22:10.1161/CIRCGEN.119.002686. doi: 10.1161/CIRCGEN.119.002686. Online ahead of print. Circ Genom Precis Med. 2019. PMID: 31638833 Free PMC article.
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. Hjeij R, et al. Among authors: olbrich h. Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849778 Free PMC article.
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Knowles MR, et al. Among authors: olbrich h. Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19. Am J Hum Genet. 2013. PMID: 24055112 Free PMC article.
Ciliary function and motor protein composition of human fallopian tubes.
Raidt J, Werner C, Menchen T, Dougherty GW, Olbrich H, Loges NT, Schmitz R, Pennekamp P, Omran H. Raidt J, et al. Among authors: olbrich h. Hum Reprod. 2015 Dec;30(12):2871-80. doi: 10.1093/humrep/dev227. Epub 2015 Sep 15. Hum Reprod. 2015. PMID: 26373788
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
Cindrić S, Dougherty GW, Olbrich H, Hjeij R, Loges NT, Amirav I, Philipsen MC, Marthin JK, Nielsen KG, Sutharsan S, Raidt J, Werner C, Pennekamp P, Dworniczak B, Omran H. Cindrić S, et al. Among authors: olbrich h. Am J Respir Cell Mol Biol. 2020 Mar;62(3):382-396. doi: 10.1165/rcmb.2019-0086OC. Am J Respir Cell Mol Biol. 2020. PMID: 31545650
242 results