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Items: 6

1.
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type
N. Badiner, S.P. Taylor, K. Forlenza, R. S. Lachman, M. Bamshad, D. Nickerson, D. H. Cohn, D. Krakow
Clin Genet. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Clin Genet. 2017 Aug; 92(2): 158–165. Published online 2017 Mar 13. doi: 10.1111/cge.12947
PMCID:
PMC5538819
AbstractArticlePDF–311K
2.
Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles
J Cell Biol. 1996 May 2; 133(4): 831–842. doi: 10.1083/jcb.133.4.831
PMCID:
PMC2120833
SummaryPDF–3.2M
3.
Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins.
B H Gibbons, D J Asai, W J Tang, T S Hays, I R Gibbons
Mol Biol Cell. 1994 Jan; 5(1): 57–70. doi: 10.1091/mbc.5.1.57
PMCID:
PMC301009
SummaryPage BrowsePDF–3.6M
4.
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E. Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang
Genome Med. 2018; 10: 74. Published online 2018 Sep 28. doi: 10.1186/s13073-018-0582-x
PMCID:
PMC6162951
AbstractArticlePDF–844K
5.
Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li–Fraumeni cancer predisposition syndrome
Hany Ariffin, Pierre Hainaut, Anna Puzio-Kuter, Soo Sin Choong, Adelyne Sue Li Chan, Denis Tolkunov, Gunaretnam Rajagopal, Wenfeng Kang, Leon Li Wen Lim, Shekhar Krishnan, Kok-Siong Chen, Maria Isabel Achatz, Mawar Karsa, Jannah Shamsani, Arnold J. Levine, Chang S. Chan
Proc Natl Acad Sci U S A. 2014 Oct 28; 111(43): 15497–15501. Published online 2014 Oct 13. doi: 10.1073/pnas.1417322111
PMCID:
PMC4217424
AbstractArticlePDF–615K
6.
Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
Amy E. Merrill, Barry Merriman, Claire Farrington-Rock, Natalia Camacho, Eiman T. Sebald, Vincent A. Funari, Matthew J. Schibler, Marc H. Firestein, Zachary A. Cohn, Mary Ann Priore, Alicia K. Thompson, David L. Rimoin, Stanley F. Nelson, Daniel H. Cohn, Deborah Krakow
Am J Hum Genet. 2009 Apr 10; 84(4): 542–549. doi: 10.1016/j.ajhg.2009.03.015
PMCID:
PMC2667993
AbstractArticlePDF–1.0M

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