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Items: 1 to 20 of 53

1.

Meckel-Gruber syndrome: A rare and lethal anomaly.

Kheir AE, Imam A, Omer IM, Hassan IM, Elamin SA, Awadalla EA, Gadalla MH, Hamdoon TA.

Sudan J Paediatr. 2012;12(1):93-6.

2.

Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish.

Stawicki TM, Hernandez L, Esterberg R, Linbo T, Owens KN, Shah AN, Thapa N, Roberts B, Moens CB, Rubel EW, Raible DW.

G3 (Bethesda). 2016 Jul 7;6(7):2225-35. doi: 10.1534/g3.116.030080.

3.

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L.

Hum Genome Var. 2014 Nov 6;1:14020. doi: 10.1038/hgv.2014.20. eCollection 2014. Review. Erratum in: Hum Genome Var. 2015;2:15001.

4.

Human basal body basics.

Vertii A, Hung HF, Hehnly H, Doxsey S.

Cilia. 2016 Mar 14;5:13. doi: 10.1186/s13630-016-0030-8. eCollection 2016. Review.

5.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT.

BMC Med Genet. 2016 Jan 4;17:1. doi: 10.1186/s12881-015-0265-z.

6.

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling.

Yee LE, Garcia-Gonzalo FR, Bowie RV, Li C, Kennedy JK, Ashrafi K, Blacque OE, Leroux MR, Reiter JF.

PLoS Genet. 2015 Nov 5;11(11):e1005627. doi: 10.1371/journal.pgen.1005627. eCollection 2015 Nov.

7.

New frontiers: discovering cilia-independent functions of cilia proteins.

Vertii A, Bright A, Delaval B, Hehnly H, Doxsey S.

EMBO Rep. 2015 Oct;16(10):1275-87. doi: 10.15252/embr.201540632. Epub 2015 Sep 9. Review.

PMID:
26358956
8.

Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.

Drivas TG, Wojno AP, Tucker BA, Stone EM, Bennett J.

Sci Transl Med. 2015 Jun 10;7(291):291ra97. doi: 10.1126/scitranslmed.aaa5370.

9.

Using the zebrafish lateral line to uncover novel mechanisms of action and prevention in drug-induced hair cell death.

Stawicki TM, Esterberg R, Hailey DW, Raible DW, Rubel EW.

Front Cell Neurosci. 2015 Feb 18;9:46. doi: 10.3389/fncel.2015.00046. eCollection 2015. Review.

10.

Unraveling the genetics of Joubert and Meckel-Gruber syndromes.

Szymanska K, Hartill VL, Johnson CA.

J Pediatr Genet. 2014 Nov 5;3(2):65-78.

11.

Genetic, chromosomal, and syndromic causes of neural tube defects.

Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Samadi AS, Khalil MI, Al-Mardawi E, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S49-56.

12.

Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.

Li X, Hu J, Zhang J, Jin Q, Wang DM, Yu J, Zhang Q, Zhang YB.

PLoS One. 2014 Jul 1;9(7):e101152. doi: 10.1371/journal.pone.0101152. eCollection 2014.

13.

Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks.

Barker AR, Renzaglia KS, Fry K, Dawe HR.

BMC Genomics. 2014 Jun 26;15:531. doi: 10.1186/1471-2164-15-531.

14.

Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis.

Veleri S, Manjunath SH, Fariss RN, May-Simera H, Brooks M, Foskett TA, Gao C, Longo TA, Liu P, Nagashima K, Rachel RA, Li T, Dong L, Swaroop A.

Nat Commun. 2014 Jun 20;5:4207. doi: 10.1038/ncomms5207.

15.

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.

Barker AR, Thomas R, Dawe HR.

Organogenesis. 2014 Jan 1;10(1):96-107. doi: 10.4161/org.27375. Epub 2013 Dec 9. Review.

16.

The role of primary cilia in the development and disease of the retina.

Wheway G, Parry DA, Johnson CA.

Organogenesis. 2014 Jan 1;10(1):69-85. doi: 10.4161/org.26710. Epub 2013 Oct 25. Review.

17.

Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.

Tiwari S, Hudson S, Gattone VH 2nd, Miller C, Chernoff EA, Belecky-Adams TL.

PLoS One. 2013;8(3):e59306. doi: 10.1371/journal.pone.0059306. Epub 2013 Mar 13.

18.

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

Leightner AC, Hommerding CJ, Peng Y, Salisbury JL, Gainullin VG, Czarnecki PG, Sussman CR, Harris PC.

Hum Mol Genet. 2013 May 15;22(10):2024-40. doi: 10.1093/hmg/ddt054. Epub 2013 Feb 7.

19.

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

Szymanska K, Berry I, Logan CV, Cousins SR, Lindsay H, Jafri H, Raashid Y, Malik-Sharif S, Castle B, Ahmed M, Bennett C, Carlton R, Johnson CA.

Cilia. 2012 Oct 1;1(1):18. doi: 10.1186/2046-2530-1-18.

20.

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS.

Eur J Hum Genet. 2013 Jul;21(7):762-8. doi: 10.1038/ejhg.2012.254. Epub 2012 Nov 21.

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