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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1984 1
1992 1
1994 1
1997 2
1998 5
1999 3
2000 5
2001 2
2002 6
2003 8
2004 6
2005 13
2006 2
2007 3
2008 4
2009 5
2010 3
2011 4
2012 7
2013 7
2014 3
2016 5
2017 6
2024 0

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PubMed (Bookshelf cited) for id: 64512

97 results

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Page 1
Structural brain abnormalities in 12 persons with aniridia.
Grant MK, Bobilev AM, Pierce JE, DeWitte J, Lauderdale JD. Grant MK, et al. F1000Res. 2017 Mar 13;6:255. doi: 10.12688/f1000research.11063.2. eCollection 2017. F1000Res. 2017. PMID: 29034075 Free PMC article.
A CGH array procedure to detect PAX6 gene structural defects.
Franzoni A, Russo PD, Baldan F, D'Elia AV, Puppin C, Penco S, Damante G. Franzoni A, et al. Mol Cell Probes. 2017 Apr;32:65-68. doi: 10.1016/j.mcp.2016.12.001. Epub 2016 Dec 2. Mol Cell Probes. 2017. PMID: 27919838
Clinical utility gene card for: Aniridia.
Richardson R, Hingorani M, Van Heyningen V, Gregory-Evans C, Moosajee M. Richardson R, et al. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.73. Epub 2016 Jul 6. Eur J Hum Genet. 2016. PMID: 27381094 Free PMC article. No abstract available.
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L. Gerber S, et al. Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108797 Free PMC article.
Assessment of PAX6 alleles in 66 families with aniridia.
Bobilev AM, McDougal ME, Taylor WL, Geisert EE, Netland PA, Lauderdale JD. Bobilev AM, et al. Clin Genet. 2016 Jun;89(6):669-77. doi: 10.1111/cge.12708. Epub 2016 Jan 25. Clin Genet. 2016. PMID: 26661695 Free PMC article.
97 results