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

Year Number of Results
1973 1
1974 1
1975 6
1976 1
1978 1
1979 2
1980 1
1981 1
1982 7
1983 5
1984 5
1985 4
1986 6
1987 4
1988 6
1989 6
1990 5
1991 5
1992 16
1993 9
1994 8
1995 11
1996 5
1997 9
1998 8
1999 5
2000 2
2001 4
2002 8
2003 4
2004 6
2005 5
2006 7
2007 8
2008 6
2009 6
2010 1
2011 3
2012 1
2013 5
2014 6
2015 2
2016 4
2017 6
2019 4
2020 1
2021 0
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Search Results

223 results
Results by year
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Page 1
Aniridia.
Hingorani M, Hanson I, van Heyningen V. Hingorani M, et al. Among authors: van heyningen v. Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13. Eur J Hum Genet. 2012. PMID: 22692063 Free PMC article. Review.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. Shaw ND, et al. Among authors: van heyningen v. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067909 Free PMC article.
Genome sequencing-the dawn of a game-changing era.
van Heyningen V. van Heyningen V. Heredity (Edinb). 2019 Jul;123(1):58-66. doi: 10.1038/s41437-019-0226-y. Epub 2019 Jun 12. Heredity (Edinb). 2019. PMID: 31189904 Free PMC article. Review.
Developmental eye disorders.
Fitzpatrick DR, van Heyningen V. Fitzpatrick DR, et al. Among authors: van heyningen v. Curr Opin Genet Dev. 2005 Jun;15(3):348-53. doi: 10.1016/j.gde.2005.04.013. Curr Opin Genet Dev. 2005. PMID: 15917212 Review.
PAX6 mutations reviewed.
Prosser J, van Heyningen V. Prosser J, et al. Among authors: van heyningen v. Hum Mutat. 1998;11(2):93-108. doi: 10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M. Hum Mutat. 1998. PMID: 9482572 Review.
PAX6 in sensory development.
van Heyningen V, Williamson KA. van Heyningen V, et al. Hum Mol Genet. 2002 May 15;11(10):1161-7. doi: 10.1093/hmg/11.10.1161. Hum Mol Genet. 2002. PMID: 12015275 Review.
Transcription factors in disease.
Engelkamp D, van Heyningen V. Engelkamp D, et al. Among authors: van heyningen v. Curr Opin Genet Dev. 1996 Jun;6(3):334-42. doi: 10.1016/s0959-437x(96)80011-6. Curr Opin Genet Dev. 1996. PMID: 8791518 Review.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR. Williamson KA, et al. Among authors: van heyningen v. Genet Med. 2020 Mar;22(3):598-609. doi: 10.1038/s41436-019-0685-9. Epub 2019 Nov 8. Genet Med. 2020. PMID: 31700164 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. Among authors: van heyningen v. 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.
223 results
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