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

Year Number of Results
1990 1
1992 1
1998 2
1999 2
2001 1
2002 1
2003 2
2004 2
2005 5
2006 6
2007 3
2008 1
2013 1
2016 3
2017 2
2018 3
2020 1
2021 1
2024 0

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31 results

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Page 1
Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.
Alshamrani AA, Raddadi O, Schatz P, Lenzner S, Neuhaus C, Azzam E, Abdelkader E. Alshamrani AA, et al. Among authors: lenzner s. Am J Ophthalmol Case Rep. 2020 Jun 13;19:100780. doi: 10.1016/j.ajoc.2020.100780. eCollection 2020 Sep. Am J Ophthalmol Case Rep. 2020. PMID: 32613137 Free PMC article.
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X, Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss AW, McGaughran J, Gecz J, Burstein E. Starokadomskyy P, et al. Among authors: lenzner s. J Clin Invest. 2013 May;123(5):2244-56. doi: 10.1172/JCI66466. Epub 2013 Apr 8. J Clin Invest. 2013. PMID: 23563313 Free PMC article.
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W. Schwahn U, et al. Among authors: lenzner s. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214. Nat Genet. 1998. PMID: 9697692
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S. Winter J, et al. Among authors: lenzner s. Hum Genet. 2003 Mar;112(3):249-54. doi: 10.1007/s00439-002-0901-5. Epub 2003 Jan 24. Hum Genet. 2003. PMID: 12545276
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S. Laumonnier F, et al. Among authors: lenzner s. J Med Genet. 2005 Oct;42(10):780-6. doi: 10.1136/jmg.2004.029439. J Med Genet. 2005. PMID: 16199551 Free PMC article.
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH. Kalscheuer VM, et al. Among authors: lenzner s. Nat Genet. 2003 Dec;35(4):313-5. doi: 10.1038/ng1264. Epub 2003 Nov 23. Nat Genet. 2003. PMID: 14634649
31 results