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High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).
Am J Ophthalmol. 2015 May;159(5):973-9.e2. doi: 10.1016/j.ajo.2015.01.021. Epub 2015 Jan 26.
Am J Ophthalmol. 2015.
PMID: 25634536
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A.
Macia MS, et al. Among authors: mellgren aec.
Am J Hum Genet. 2017 Feb 2;100(2):323-333. doi: 10.1016/j.ajhg.2016.12.011. Epub 2017 Jan 12.
Am J Hum Genet. 2017.
PMID: 28089251
Free PMC article.
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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AEC, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A.
Macia MS, et al. Among authors: mellgren aec.
Am J Hum Genet. 2017 Feb 2;100(2):372. doi: 10.1016/j.ajhg.2017.01.025.
Am J Hum Genet. 2017.
PMID: 28157543
Free PMC article.
No abstract available.
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ADAMTSL4-Related Eye Disorders.
Rødahl E, Mellgren AEC, Boonstra NE, Knappskog PM.
Rødahl E, et al. Among authors: mellgren aec.
2012 Feb 16 [updated 2020 Jul 9]. 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.
2012 Feb 16 [updated 2020 Jul 9]. 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: 22338190
Free Books & Documents.
Review.
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Absence of the proteoglycan decorin reduces glucose tolerance in overfed male mice.
Svärd J, Røst TH, Sommervoll CEN, Haugen C, Gudbrandsen OA, Mellgren AE, Rødahl E, Fernø J, Dankel SN, Sagen JV, Mellgren G.
Svärd J, et al. Among authors: mellgren ae.
Sci Rep. 2019 Mar 15;9(1):4614. doi: 10.1038/s41598-018-37501-x.
Sci Rep. 2019.
PMID: 30874564
Free PMC article.
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Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.
Mellgren AE, Bruland O, Vedeler A, Saraste J, Schönheit J, Bredrup C, Knappskog PM, Rødahl E.
Mellgren AE, et al.
Invest Ophthalmol Vis Sci. 2015 May;56(5):2909-15. doi: 10.1167/iovs.14-16014.
Invest Ophthalmol Vis Sci. 2015.
PMID: 26029887
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Ocular pterygium--digital keloid dysplasia.
Abarca H, Mellgren AE, Trubnykova M, Haugen OH, Høvding G, Tveit KS, Houge G, Bredrup C, Hennekam RC.
Abarca H, et al. Among authors: mellgren ae.
Am J Med Genet A. 2014 Nov;164A(11):2901-7. doi: 10.1002/ajmg.a.36713. Epub 2014 Aug 14.
Am J Med Genet A. 2014.
PMID: 25124224
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