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Year | Number of Results |
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2012 | 1 |
2015 | 2 |
2016 | 1 |
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PubMed (cited) for id: 614779
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A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
Hum Mutat. 2016 Feb;37(2):194-200. doi: 10.1002/humu.22928. Epub 2015 Dec 2.
Hum Mutat. 2016.
PMID: 26531781
Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.
Narasimhan V, Hjeij R, Vij S, Loges NT, Wallmeier J, Koerner-Rettberg C, Werner C, Thamilselvam SK, Boey A, Choksi SP, Pennekamp P, Roy S, Omran H.
Narasimhan V, et al.
Hum Mutat. 2015 Mar;36(3):307-18. doi: 10.1002/humu.22738.
Hum Mutat. 2015.
PMID: 25504577
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A human laterality disorder associated with recessive CCDC11 mutation.
Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O.
Perles Z, et al.
J Med Genet. 2012 Jun;49(6):386-90. doi: 10.1136/jmedgenet-2011-100457. Epub 2012 May 10.
J Med Genet. 2012.
PMID: 22577226
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