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A Circulating MicroRNA Profile in a Laser-Induced Mouse Model of Choroidal Neovascularization.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 8, p. 2689, doi. 10.3390/ijms21082689
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- Article
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 5, p. 1597, doi. 10.3390/ijms21051597
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- Article
Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes.
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- Disease Markers, 1999, v. 15, n. 1-3, p. 53, doi. 10.1155/1999/238375
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- Article
Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer.
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- Breast Care, 2023, v. 18, n. 2, p. 106, doi. 10.1159/000528972
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- Article
Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.
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- European Journal of Human Genetics, 2002, v. 10, n. 4, p. 281, doi. 10.1038/sj.ejhg.5200796
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- Article
The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina.
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- Journal of Cellular & Molecular Medicine, 2017, v. 21, n. 4, p. 768, doi. 10.1111/jcmm.13019
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- Article
A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women.
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- Carcinogenesis, 2009, v. 30, n. 1, p. 59, doi. 10.1093/carcin/bgn253
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- Article
SNPs in ultraconserved elements and familial breast cancer risk.
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- Carcinogenesis, 2008, v. 29, n. 2, p. 351, doi. 10.1093/carcin/bgm290
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- Article
A BRCA2 germ-line mutation in familial pancreatic carcinoma.
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- International Journal of Cancer, 2001, v. 91, n. 5, p. 742, doi. 10.1002/1097-0215(200002)9999:9999<::AID-IJC1116>3.0.CO;2-L
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- Article
Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
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- Ophthalmic Research, 2020, v. 63, n. 2, p. 141, doi. 10.1159/000504757
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- Article
Sorsby fundus dystrophy mutation Timp3<sup>S156C</sup> affects the morphological and biochemical phenotype but not metalloproteinase homeostasis.
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- Journal of Cellular Physiology, 2003, v. 197, n. 1, p. 149, doi. 10.1002/jcp.10361
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- Article
Prolonged Recovery of Retinal Structure/Function after Gene Therapy in an Rs1h-Deficient Mouse Model of X-Linked Juvenile Retinoschisis
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- Molecular Therapy, 2005, v. 12, n. 4, p. 644, doi. 10.1016/j.ymthe.2005.06.002
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- Article
Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.
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- Human Mutation, 2009, v. 30, n. 7, p. 1048, doi. 10.1002/humu.20957
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- Article
Case-control genetic association study of fibulin-6 ( FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
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- Human Mutation, 2007, v. 28, n. 4, p. 406, doi. 10.1002/humu.20464
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- Article
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
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- Human Molecular Genetics, 2011, v. 20, n. 6, p. 1132, doi. 10.1093/hmg/ddq557
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- Article
Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.
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- Human Molecular Genetics, 2011, v. 20, n. 7, p. 1387, doi. 10.1093/hmg/ddr020
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- Article
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).
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- Human Molecular Genetics, 2010, v. 19, n. 23, p. 4694, doi. 10.1093/hmg/ddq399
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- Article
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
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- Human Molecular Genetics, 2005, v. 14, n. 21, p. 3227, doi. 10.1093/hmg/ddi353
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- Article
Défaut primaire d'éruption (DPE). Analyse génétique clinique et moléculaire.
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- Orthodontie Française, 2013, v. 84, n. 3, p. 241, doi. 10.1051/orthodfr/2013055
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Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #660 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/660.pdf).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 418
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- Article
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
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- Human Mutation, 2000, v. 15, n. 4, p. 301, doi. 10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N
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- Article
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
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- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2415
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- Article