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Ciliopathies: Genetics in Pediatric Medicine.

Oud MM, Lamers IJ, Arts HH.

J Pediatr Genet. 2017 Mar;6(1):18-29. doi: 10.1055/s-0036-1593841. Review.


A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.

Stoetzel C, Bär S, De Craene JO, Scheidecker S, Etard C, Chicher J, Reck JR, Perrault I, Geoffroy V, Chennen K, Strähle U, Hammann P, Friant S, Dollfus H.

Nat Commun. 2016 Nov 24;7:13586. doi: 10.1038/ncomms13586.


Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N.

Am J Hum Genet. 2016 Aug 4;99(2):318-36. doi: 10.1016/j.ajhg.2015.04.023.


Bardet-Biedl Syndrome.

Suspitsin EN, Imyanitov EN.

Mol Syndromol. 2016 May;7(2):62-71. doi: 10.1159/000445491. Review.


Primary ciliary dyskinesia and associated sensory ciliopathies.

Horani A, Ferkol TW.

Expert Rev Respir Med. 2016;10(5):569-76. doi: 10.1586/17476348.2016.1165612. Review.


Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry.

Silva E, Betleja E, John E, Spear P, Moresco JJ, Zhang S, Yates JR 3rd, Mitchell BJ, Mahjoub MR.

Mol Biol Cell. 2016 Jan 1;27(1):48-63. doi: 10.1091/mbc.E15-07-0474.


Mutations in human IFT140 cause non-syndromic retinal degeneration.

Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R.

Hum Genet. 2015 Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x.


CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.

Rachel RA, Yamamoto EA, Dewanjee MK, May-Simera HL, Sergeev YV, Hackett AN, Pohida K, Munasinghe J, Gotoh N, Wickstead B, Fariss RN, Dong L, Li T, Swaroop A.

Hum Mol Genet. 2015 Jul 1;24(13):3775-91. doi: 10.1093/hmg/ddv123.


Biology and therapy of inherited retinal degenerative disease: insights from mouse models.

Veleri S, Lazar CH, Chang B, Sieving PA, Banin E, Swaroop A.

Dis Model Mech. 2015 Feb;8(2):109-29. doi: 10.1242/dmm.017913. Review.


Genetic & epigenetic approach to human obesity.

Rao KR, Lal N, Giridharan NV.

Indian J Med Res. 2014 Nov;140(5):589-603. Review.


Update on the genetics of bardet-biedl syndrome.

M'hamdi O, Ouertani I, Chaabouni-Bouhamed H.

Mol Syndromol. 2014 Feb;5(2):51-6. doi: 10.1159/000357054. Review.


IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS.

Hum Mol Genet. 2014 Jun 15;23(12):3307-15. doi: 10.1093/hmg/ddu044.


Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

Brinckman DD, Keppler-Noreuil KM, Blumhorst C, Biesecker LG, Sapp JC, Johnston JJ, Wiggs EA.

Am J Med Genet A. 2013 Dec;161A(12):2964-71. doi: 10.1002/ajmg.a.36245.


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. Review.


DISC1 genetics, biology and psychiatric illness.

Thomson PA, Malavasi EL, Grünewald E, Soares DC, Borkowska M, Millar JK.

Front Biol (Beijing). 2013 Feb 1;8(1):1-31.


Prioritization of retinal disease genes: an integrative approach.

Wagner AH, Taylor KR, DeLuca AP, Casavant TL, Mullins RF, Stone EM, Scheetz TE, Braun TA.

Hum Mutat. 2013 Jun;34(6):853-9. doi: 10.1002/humu.22317.


Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome.

Ashkinadze E, Rosen T, Brooks SS, Katsanis N, Davis EE.

Clin Genet. 2013 Jun;83(6):553-9. doi: 10.1111/cge.12022.


Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875.


The ciliopathies: a transitional model into systems biology of human genetic disease.

Davis EE, Katsanis N.

Curr Opin Genet Dev. 2012 Jun;22(3):290-303. doi: 10.1016/j.gde.2012.04.006. Review.


BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes.

Zhang Q, Seo S, Bugge K, Stone EM, Sheffield VC.

Hum Mol Genet. 2012 May 1;21(9):1945-53. doi: 10.1093/hmg/dds004.

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