11440988,19581274,15948788,19029523,16617242,26467025,28492532[uid] - Search Results

Year	Number of Results
2001	1
2005	1
2006	1
2008	1
2009	1
2010	1
2015	1
2016	1
2017	1
2024	0

1

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B. Pesch UE, et al. Hum Mol Genet. 2001 Jun 15;10(13):1359-68. doi: 10.1093/hmg/10.13.1359. Hum Mol Genet. 2001. PMID: 11440988

2

OPA1 increases the risk of normal but not high tension glaucoma.

Yu-Wai-Man P, Stewart JD, Hudson G, Andrews RM, Griffiths PG, Birch MK, Chinnery PF. Yu-Wai-Man P, et al. J Med Genet. 2010 Feb;47(2):120-5. doi: 10.1136/jmg.2009.067512. Epub 2009 Jul 5. J Med Genet. 2010. PMID: 19581274 Free PMC article.

3

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E. Puomila A, et al. Acta Ophthalmol Scand. 2005 Jun;83(3):337-46. doi: 10.1111/j.1600-0420.2005.00448.x. Acta Ophthalmol Scand. 2005. PMID: 15948788 Free article.

4

OPA1 in multiple mitochondrial DNA deletion disorders.

Stewart JD, Hudson G, Yu-Wai-Man P, Blakeley EL, He L, Horvath R, Maddison P, Wright A, Griffiths PG, Turnbull DM, Taylor RW, Chinnery PF. Stewart JD, et al. Neurology. 2008 Nov 25;71(22):1829-31. doi: 10.1212/01.wnl.0000335931.54095.0a. Neurology. 2008. PMID: 19029523 No abstract available.

5

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.

Han J, Thompson-Lowrey AJ, Reiss A, Mayorov V, Jia H, Biousse V, Newman NJ, Brown MD. Han J, et al. Genet Med. 2006 Apr;8(4):217-25. doi: 10.1097/01.gim.0000214299.61930.c0. Genet Med. 2006. PMID: 16617242 Free article.

6

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ. Karbassi I, et al. Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26467025 Free PMC article.

7

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S. Nykamp K, et al. Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Genet Med. 2017. PMID: 28492532 Free PMC article.

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