Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 26

1.

Pax6 regulates the formation of the habenular nuclei by controlling the temporospatial expression of Shh in the diencephalon in vertebrates.

Chatterjee M, Guo Q, Weber S, Scholpp S, Li JY.

BMC Biol. 2014 Feb 14;12:13. doi: 10.1186/1741-7007-12-13.

PMID:
24528677
[PubMed - in process]
Free PMC Article
2.

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC.

Mol Syndromol. 2012 Sep;3(3):102-112. Epub 2012 Aug 23.

PMID:
23112752
[PubMed]
Free PMC Article
3.

Homeobox genes in the rodent pineal gland: roles in development and phenotype maintenance.

Rath MF, Rohde K, Klein DC, Møller M.

Neurochem Res. 2013 Jun;38(6):1100-12. doi: 10.1007/s11064-012-0906-y. Epub 2012 Oct 18. Review.

PMID:
23076630
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Aniridia.

Hingorani M, Hanson I, van Heyningen V.

Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13. Review.

PMID:
22692063
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A developmental and genetic classification for malformations of cortical development: update 2012.

Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB.

Brain. 2012 May;135(Pt 5):1348-69. doi: 10.1093/brain/aws019. Epub 2012 Mar 16. Review.

PMID:
22427329
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

3T3 cell lines stably expressing Pax6 or Pax6(5a)--a new tool used for identification of common and isoform specific target genes.

Kiselev Y, Eriksen TE, Forsdahl S, Nguyen LH, Mikkola I.

PLoS One. 2012;7(2):e31915. doi: 10.1371/journal.pone.0031915. Epub 2012 Feb 23.

PMID:
22384097
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.

Bakken TE, Roddey JC, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR, Jernigan TL, Kaufmann WE, Kenet T, Kennedy DN, Kuperman JM, Murray SS, Sowell ER, Rimol LM, Mattingsdal M, Melle I, Agartz I, Andreassen OA, Schork NJ, Dale AM; Alzheimer's Disease Neuroimaging Initiative; Pediatric Imaging, Neurocognition, and Genetics Study, Weiner M, Aisen P, Petersen R, Jack CR Jr, Jagust W, Trojanowki JQ, Toga AW, Beckett L, Green RC, Saykin AJ, Morris J, Liu E, Montine T, Gamst A, Thomas RG, Donohue M, Walter S, Gessert D, Sather T, Harvey D, Kornak J, Dale A, Bernstein M, Felmlee J, Fox N, Thompson P, Schuff N, Alexander G, DeCarli C, Bandy D, Koeppe RA, Foster N, Reiman EM, Chen K, Mathis C, Cairns NJ, Taylor-Reinwald L, Trojanowki JQ, Shaw L, Lee VM, Korecka M, Crawford K, Neu S, Foroud TM, Potkin S, Shen L, Kachaturian Z, Frank R, Snyder PJ, Molchan S, Kaye J, Quinn J, Lind B, Dolen S, Schneider LS, Pawluczyk S, Spann BM, Brewer J, Vanderswag H, Heidebrink JL, Lord JL, Johnson K, Doody RS, Villanueva-Meyer J, Chowdhury M, Stern Y, Honig LS, Bell KL, Morris JC, Ances B, Carroll M, Leon S, Mintun MA, Schneider S, Marson D, Griffith R, Clark D, Grossman H, Mitsis E, Romirowsky A, deToledo-Morrell L, Shah RC, Duara R, Varon D, Roberts P, Albert M, Onyike C, Kielb S, Rusinek H, de Leon MJ, Glodzik L, De Santi S, Doraiswamy PM, Petrella JR, Coleman RE, Arnold SE, Karlawish JH, Wolk D, Smith CD, Jicha G, Hardy P, Lopez OL, Oakley M, Simpson DM, Porsteinsson AP, Goldstein BS, Martin K, Makino KM, Ismail MS, Brand C, Mulnard RA, Thai G, Mc-Adams-Ortiz C, Womack K, Mathews D, Quiceno M, Diaz-Arrastia R, King R, Weiner M, Martin-Cook K, DeVous M, Levey AI, Lah JJ, Cellar JS, Burns JM, Anderson HS, Swerdlow RH, Apostolova L, Lu PH, Bartzokis G, Silverman DH, Graff-Radford NR, Parfitt F, Johnson H, Farlow MR, Hake AM, Matthews BR, Herring S, van Dyck CH, Carson RE, MacAvoy MG, Chertkow H, Bergman H, Hosein C, Black S, Stefanovic B, Caldwell C, Ging-Yuek, Hsiung R, Feldman H, Mudge B, Assaly M, Kertesz A, Rogers J, Trost D, Bernick C, Munic D, Kerwin D, Mesulam MM, Lipowski K, Wu CK, Johnson N, Sadowsky C, Martinez W, Villena T, Turner RS, Johnson K, Reynolds B, Sperling RA, Johnson KA, Marshall G, Frey M, Yesavage J, Taylor JL, Lane B, Rosen A, Tinklenberg J, Sabbagh M, Belden C, Jacobson S, Kowall N, Killiany R, Budson AE, Norbash A, Johnson PL, Obisesan TO, Wolday S, Bwayo SK, Lerner A, Hudson L, Ogrocki P, Fletcher E, Carmichael O, Olichney J, Kittur S, Borrie M, Lee TY, Bartha R, Johnson S, Asthana S, Carlsson CM, Potkin SG, Preda A, Nguyen D, Tariot P, Fleisher A, Reeder S, Bates V, Capote H, Rainka M, Scharre DW, Kataki M, Zimmerman EA, Celmins D, Brown AD, Pearlson GD, Blank K, Anderson K, Santulli RB, Schwartz ES, Sink KM, Williamson JD, Garg P, Watkins F, Ott BR, Querfurth H, Tremont G, Salloway S, Malloy P, Correia S, Rosen HJ, Miller BL, Mintzer J, Longmire CF, Spicer K, Finger E, Rachinsky I, Drost D, Jernigan T, McCabe C, Grant E, Ernst T, Kuperman J, Chung Y, Murray S, Bloss C, Darst B, Pritchett L, Saito A, Amaral D, DiNino M, Eyngorina B, Sowell E, Houston S, Soderberg L, Kaufmann W, van Zijl P, Rizzo-Busack H, Javid M, Mehta N, Ruberry E, Powers A, Rosen B, Gebhard N, Manigan H, Frazier J, Kennedy D, Yakutis L, Hill M, Gruen J, Bosson-Heenan J, Carlson H.

Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3985-90. doi: 10.1073/pnas.1105829109. Epub 2012 Feb 16.

PMID:
22343285
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Eye development genes and known syndromes.

Slavotinek AM.

Mol Genet Metab. 2011 Dec;104(4):448-56. doi: 10.1016/j.ymgme.2011.09.029. Epub 2011 Sep 29. Review.

PMID:
22005280
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Discovery and assessment of conserved Pax6 target genes and enhancers.

Coutinho P, Pavlou S, Bhatia S, Chalmers KJ, Kleinjan DA, van Heyningen V.

Genome Res. 2011 Aug;21(8):1349-59. doi: 10.1101/gr.124115.111. Epub 2011 May 26.

PMID:
21617155
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Evaluation of Pax6 mutant rat as a model for autism.

Umeda T, Takashima N, Nakagawa R, Maekawa M, Ikegami S, Yoshikawa T, Kobayashi K, Okanoya K, Inokuchi K, Osumi N.

PLoS One. 2010 Dec 21;5(12):e15500. doi: 10.1371/journal.pone.0015500.

PMID:
21203536
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV.

Mol Vis. 2010 Aug 22;16:1705-11.

PMID:
20806047
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ.

Am J Hum Genet. 2010 Sep 10;87(3):354-64. doi: 10.1016/j.ajhg.2010.07.012. Epub 2010 Aug 19.

PMID:
20727516
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A reaction-diffusion model of human brain development.

Lefèvre J, Mangin JF.

PLoS Comput Biol. 2010 Apr 22;6(4):e1000749. doi: 10.1371/journal.pcbi.1000749.

PMID:
20421989
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Eye anomalies and neurological manifestations in patients with PAX6 mutations.

Chien YH, Huang HP, Hwu WL, Chien YH, Chang TC, Lee NC.

Mol Vis. 2009 Oct 22;15:2139-45.

PMID:
19898691
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

PAX6 aniridia and interhemispheric brain anomalies.

Abouzeid H, Youssef MA, ElShakankiri N, Hauser P, Munier FL, Schorderet DF.

Mol Vis. 2009 Oct 17;15:2074-83.

PMID:
19862335
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis.

Sansom SN, Griffiths DS, Faedo A, Kleinjan DJ, Ruan Y, Smith J, van Heyningen V, Rubenstein JL, Livesey FJ.

PLoS Genet. 2009 Jun;5(6):e1000511. doi: 10.1371/journal.pgen.1000511. Epub 2009 Jun 12.

PMID:
19521500
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.

Villarroel CE, Villanueva-Mendoza C, Orozco L, Alcántara-Ortigoza MA, Jiménez DF, Ordaz JC, González-del Angel A.

Mol Vis. 2008 Sep 8;14:1650-8.

PMID:
18776953
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG.

Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293.

PMID:
18536050
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Pax6 3' deletion results in aniridia, autism and mental retardation.

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH.

Hum Genet. 2008 May;123(4):371-8. doi: 10.1007/s00439-008-0484-x. Epub 2008 Mar 6. Review.

PMID:
18322702
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

PMID:
17417613
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk