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Items: 1 to 20 of 99

1.
2.

Systematic review of autosomal recessive ataxias and proposal for a classification.

Beaudin M, Klein CJ, Rouleau GA, Dupré N.

Cerebellum Ataxias. 2017 Feb 23;4:3. doi: 10.1186/s40673-017-0061-y. eCollection 2017. Review.

3.

Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.

Trulioff A, Ermakov A, Malashichev Y.

Genes (Basel). 2017 Jan 25;8(2). pii: E48. doi: 10.3390/genes8020048. Review.

4.

The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival.

Lessieur EM, Fogerty J, Gaivin RJ, Song P, Perkins BD.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):448-460. doi: 10.1167/iovs.16-20326.

5.

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.

6.

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss.

Scekic-Zahirovic J, Sendscheid O, El Oussini H, Jambeau M, Sun Y, Mersmann S, Wagner M, Dieterlé S, Sinniger J, Dirrig-Grosch S, Drenner K, Birling MC, Qiu J, Zhou Y, Li H, Fu XD, Rouaux C, Shelkovnikova T, Witting A, Ludolph AC, Kiefer F, Storkebaum E, Lagier-Tourenne C, Dupuis L.

EMBO J. 2016 May 17;35(10):1077-97. doi: 10.15252/embj.201592559. Epub 2016 Mar 7.

7.

Validation of In utero Tractography of Human Fetal Commissural and Internal Capsule Fibers with Histological Structure Tensor Analysis.

Mitter C, Jakab A, Brugger PC, Ricken G, Gruber GM, Bettelheim D, Scharrer A, Langs G, Hainfellner JA, Prayer D, Kasprian G.

Front Neuroanat. 2015 Dec 24;9:164. doi: 10.3389/fnana.2015.00164. eCollection 2015.

8.

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Doherty D, Hildebrandt F.

J Med Genet. 2016 Mar;53(3):208-14. doi: 10.1136/jmedgenet-2015-103304. Epub 2015 Dec 16.

9.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics., Chance P, Parisi MA, Glass IA, Shendure J, Doherty D.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

10.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium., van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A.

Am J Hum Genet. 2015 May 7;96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30.

11.

Genetic changes shaping the human brain.

Bae BI, Jayaraman D, Walsh CA.

Dev Cell. 2015 Feb 23;32(4):423-34. doi: 10.1016/j.devcel.2015.01.035. Review.

12.

The influence of AHI1 variants on the diagnosis and treatment outcome in schizophrenia.

Porcelli S, Pae CU, Han C, Lee SJ, Patkar AA, Masand PS, Balzarro B, Alberti S, De Ronchi D, Serretti A.

Int J Mol Sci. 2015 Jan 22;16(2):2517-29. doi: 10.3390/ijms16022517.

13.

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ.

Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23.

14.

Evolutionary genomics of human intellectual disability.

Crespi B, Summers K, Dorus S.

Evol Appl. 2010 Jan;3(1):52-63. doi: 10.1111/j.1752-4571.2009.00098.x. Epub 2009 Sep 7.

15.

Mutation of POC1B in a severe syndromic retinal ciliopathy.

Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.

Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11.

16.

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.

17.

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N.

Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17.

18.

Loss of Ahi1 impairs neurotransmitter release and causes depressive behaviors in mice.

Ren L, Qian X, Zhai L, Sun M, Miao Z, Li J, Xu X.

PLoS One. 2014 Apr 1;9(4):e93640. doi: 10.1371/journal.pone.0093640. eCollection 2014. Erratum in: PLoS One. 2014;9(7):e103802.

19.

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, Ong LC, Cham B, Tan P, Rozen S, Tan EC.

PLoS One. 2014 Apr 1;9(4):e93409. doi: 10.1371/journal.pone.0093409. eCollection 2014.

20.

Joubert syndrome with variable features: presentation of two cases.

Barzegar M, Malaki M, Sadegi-Hokmabadi E.

Iran J Child Neurol. 2013 Spring;7(2):43-6.

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