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Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
PLoS Genet. 2021 Feb 26;17(2):e1009306. doi: 10.1371/journal.pgen.1009306. eCollection 2021 Feb.
PLoS Genet. 2021.
PMID: 33635866
Free PMC article.
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JMA, Sistermans EA, Bogunovic N, Dougherty GW, Höben IM, Große-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D.
Paff T, et al. Among authors: hoben im.
Am J Hum Genet. 2017 Jan 5;100(1):160-168. doi: 10.1016/j.ajhg.2016.11.019. Epub 2016 Dec 29.
Am J Hum Genet. 2017.
PMID: 28041644
Free PMC article.
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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.
Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H.
Höben IM, et al.
Am J Hum Genet. 2018 May 3;102(5):973-984. doi: 10.1016/j.ajhg.2018.03.025.
Am J Hum Genet. 2018.
PMID: 29727693
Free PMC article.
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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M.
Loges NT, et al. Among authors: hoben im.
Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21.
Am J Hum Genet. 2018.
PMID: 30471718
Free PMC article.
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CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty GW, Mizuno K, Nöthe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strünker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Große-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Höben IM, Junger K, Gützlaff J, Cindrić S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H.
Dougherty GW, et al. Among authors: hoben im.
Nat Commun. 2020 Nov 2;11(1):5520. doi: 10.1038/s41467-020-19113-0.
Nat Commun. 2020.
PMID: 33139725
Free PMC article.
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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: hoben im.
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.
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Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual.
Schöning L, Loges NT, Nitschke Y, Höben IM, Röpke A, Crisponi L, Omran H, Rutsch F, Buers I.
Schöning L, et al. Among authors: hoben im.
Stem Cell Res. 2020 Jul;46:101820. doi: 10.1016/j.scr.2020.101820. Epub 2020 May 28.
Stem Cell Res. 2020.
PMID: 32492556
Free article.
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Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line.
Buers I, Schöning L, Tomas Loges N, Nitschke Y, Höben IM, Röpke A, Crisponi L, Omran H, Rutsch F.
Buers I, et al. Among authors: hoben im.
Stem Cell Res. 2020 Jul;46:101855. doi: 10.1016/j.scr.2020.101855. Epub 2020 Jun 1.
Stem Cell Res. 2020.
PMID: 32512309
Free article.
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