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

Year Number of Results
1987 2
1988 2
1989 1
1992 1
1993 1
1995 1
2005 1
2006 4
2007 2
2008 5
2009 2
2010 3
2011 2
2012 3
2013 4
2014 1
2015 3
2016 3
2017 1
2019 1
2021 1
2023 2
2024 0

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39 results

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Page 1
Shedding light on myopia by studying complete congenital stationary night blindness.
Zeitz C, Roger JE, Audo I, Michiels C, Sánchez-Farías N, Varin J, Frederiksen H, Wilmet B, Callebert J, Gimenez ML, Bouzidi N, Blond F, Guilllonneau X, Fouquet S, Léveillard T, Smirnov V, Vincent A, Héon E, Sahel JA, Kloeckener-Gruissem B, Sennlaub F, Morgans CW, Duvoisin RM, Tkatchenko AV, Picaud S. Zeitz C, et al. Among authors: kloeckener gruissem b. Prog Retin Eye Res. 2023 Mar;93:101155. doi: 10.1016/j.preteyeres.2022.101155. Epub 2023 Jan 19. Prog Retin Eye Res. 2023. PMID: 36669906 Free article. Review.
VCAN-Related Vitreoretinopathy.
Kloeckener-Gruissem B, Amstutz C. Kloeckener-Gruissem B, et al. 2009 Feb 3 [updated 2016 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Feb 3 [updated 2016 Jan 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301747 Free Books & Documents. Review.
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C, Nassisi M, Laurent-Coriat C, Andrieu C, Boyard F, Condroyer C, Démontant V, Antonio A, Lancelot ME, Frederiksen H, Kloeckener-Gruissem B, El-Shamieh S, Zanlonghi X, Meunier I, Roux AF, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Among authors: kloeckener gruissem b. Hum Mutat. 2021 Apr;42(4):323-341. doi: 10.1002/humu.24174. Epub 2021 Feb 19. Hum Mutat. 2021. PMID: 33538369 Review.
mRNA splicing is modulated by intronic microRNAs.
Farberov L, Weissglas-Volkov D, Shapira G, Zoabi Y, Schiff C, Kloeckener-Gruissem B, Neidhardt J, Shomron N. Farberov L, et al. Among authors: kloeckener gruissem b. iScience. 2023 Aug 28;26(10):107723. doi: 10.1016/j.isci.2023.107723. eCollection 2023 Oct 20. iScience. 2023. PMID: 37692287 Free PMC article.
The molecular basis of human retinal and vitreoretinal diseases.
Berger W, Kloeckener-Gruissem B, Neidhardt J. Berger W, et al. Among authors: kloeckener gruissem b. Prog Retin Eye Res. 2010 Sep;29(5):335-75. doi: 10.1016/j.preteyeres.2010.03.004. Epub 2010 Mar 31. Prog Retin Eye Res. 2010. PMID: 20362068 Review.
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H. Thijssen PE, et al. Among authors: kloeckener gruissem b. Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870. Nat Commun. 2015. PMID: 26216346 Free PMC article.
Mutation- and tissue-specific alterations of RPGR transcripts.
Schmid F, Glaus E, Cremers FP, Kloeckener-Gruissem B, Berger W, Neidhardt J. Schmid F, et al. Among authors: kloeckener gruissem b. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1628-35. doi: 10.1167/iovs.09-4031. Epub 2009 Oct 15. Invest Ophthalmol Vis Sci. 2010. PMID: 19834030 Free article.
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.
Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, Moore AT, Yanes Ó, Nunes V, Palacín M, Verrey F, Kloeckener-Gruissem B. Knöpfel EB, et al. Among authors: kloeckener gruissem b. Front Physiol. 2019 Jun 4;10:688. doi: 10.3389/fphys.2019.00688. eCollection 2019. Front Physiol. 2019. PMID: 31231240 Free PMC article.
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H. Thijssen PE, et al. Among authors: kloeckener gruissem b. Nat Commun. 2016 Jun 22;7:12003. doi: 10.1038/ncomms12003. Nat Commun. 2016. PMID: 27328760 Free PMC article. No abstract available.
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Weemaes CM, et al. Among authors: kloeckener gruissem b. Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486536 Free PMC article.
39 results