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

Year Number of Results
1999 1
2000 1
2001 1
2003 2
2004 1
2005 3
2006 9
2007 11
2008 11
2009 8
2010 3
2011 10
2012 9
2013 8
2014 9
2015 8
2016 5
2019 1
2021 1
2022 4
2024 0

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Similar articles for PMID: 24290376

98 results

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Page 1
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN, Bengani H, Hufnagel RB, Damante G, Ansari M, Marsh JA, Grimes GR, Kriegsheim AV, Moore D, McKie L, Rahmat J, Mio C, Blyth M, Keng WT, Islam L, McEntargart M, Mannens MM, Heyningen VV, Rainger J, Brooks BP, FitzPatrick DR. Hall HN, et al. PLoS One. 2022 Nov 22;17(11):e0268149. doi: 10.1371/journal.pone.0268149. eCollection 2022. PLoS One. 2022. PMID: 36413568 Free PMC article.
A case of early-onset diabetes with impaired insulin secretion carrying a PAX6 gene Gln135* mutation.
Sekiya M, Yuhara M, Murayama Y, Ohyama Osawa M, Nakajima R, Ohuchi N, Matsumoto N, Yamazaki D, Mori S, Matsuda T, Sugano Y, Osaki Y, Iwasaki H, Suzuki H, Shimano H. Sekiya M, et al. Endocrinol Diabetes Metab Case Rep. 2022 Aug 1;2022:22-0271. doi: 10.1530/EDM-22-0271. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2022. PMID: 35979842 Free PMC article.
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.
98 results