Lenzner S - Search Results

1

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P. Birtel J, et al. Among authors: lenzner s. Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. Sci Rep. 2018. PMID: 29555955 Free PMC article.

2

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P. Birtel J, et al. Among authors: lenzner s. PLoS One. 2018 Dec 13;13(12):e0207958. doi: 10.1371/journal.pone.0207958. eCollection 2018. PLoS One. 2018. PMID: 30543658 Free PMC article.

3

A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy.

Khan AO, Lenzner S, Bolz HJ. Khan AO, et al. Among authors: lenzner s. Ophthalmic Genet. 2017 Jul-Aug;38(4):380-382. doi: 10.1080/13816810.2016.1217551. Epub 2016 Sep 26. Ophthalmic Genet. 2017. PMID: 27668459

4

Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

Khan AO, Budde BS, Nürnberg P, Kawalia A, Lenzner S, Bolz HJ. Khan AO, et al. Among authors: lenzner s. Clin Genet. 2018 Jan;93(1):149-154. doi: 10.1111/cge.13022. Epub 2017 May 9. Clin Genet. 2018. PMID: 28369829

5

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.

6

Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.

Khan AO, Tamimi M, Lenzner S, Bolz HJ. Khan AO, et al. Among authors: lenzner s. Clin Genet. 2016 Jul;90(1):96-8. doi: 10.1111/cge.12715. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26785811 No abstract available.

7

Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.

Magliyah MS, Geuer S, Alsalamah AK, Lenzner S, Drasdo M, Schatz P. Magliyah MS, et al. Among authors: lenzner s. JAMA Ophthalmol. 2021 Mar 1;139(3):339-343. doi: 10.1001/jamaophthalmol.2020.6085. JAMA Ophthalmol. 2021. PMID: 33507209 Free PMC article.

8

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.

Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. Garshasbi M, et al. Among authors: lenzner s. Hum Genet. 2006 Feb;118(6):708-15. doi: 10.1007/s00439-005-0104-y. Epub 2005 Nov 26. Hum Genet. 2006. PMID: 16311745

9

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

10

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

Jensen LR, Lenzner S, Moser B, Freude K, Tzschach A, Wei C, Fryns JP, Chelly J, Turner G, Moraine C, Hamel B, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: lenzner s. Eur J Hum Genet. 2007 Jan;15(1):68-75. doi: 10.1038/sj.ejhg.5201714. Epub 2006 Sep 13. Eur J Hum Genet. 2007. PMID: 16969374

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