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The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1190 - 1198
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we... 
OCULAR MELANOMA | CELLS | COLORECTAL-CANCER | PROTEINS DLK1 | METASTASES | GENETICS & HEREDITY | RISK | EXPRESSION | RADIATION | SF3B1 | SOMATIC MUTATIONS | Melanoma - diagnosis | Exons | Humans | Middle Aged | Male | Phosphoproteins - metabolism | Case-Control Studies | RNA Splicing Factors - metabolism | DNA Copy Number Variations | Melanoma - genetics | Melanocytes - pathology | Tumor Suppressor Proteins - genetics | Aged, 80 and over | Ubiquitin Thiolesterase - metabolism | Adult | Female | Membrane Proteins - metabolism | Eukaryotic Initiation Factor-1 - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism | Tumor Suppressor p53-Binding Protein 1 - metabolism | GTP-Binding Protein alpha Subunits, Gq-G11 - genetics | Uveal Neoplasms - genetics | Genome-Wide Association Study | Tumor Suppressor Proteins - metabolism | GTP-Binding Protein alpha Subunits - metabolism | Tumor Suppressor p53-Binding Protein 1 - genetics | Membrane Proteins - genetics | Eukaryotic Initiation Factor-1 - genetics | Ubiquitin-Protein Ligases - metabolism | GTP-Binding Protein alpha Subunits - genetics | Phosphoproteins - genetics | RNA Splicing Factors - genetics | Ubiquitin Thiolesterase - genetics | Skin Neoplasms | Uveal Neoplasms - diagnosis | Aged | Mutation | Ubiquitin-Protein Ligases - genetics | Genetic aspects | Nucleotide sequencing | Methods | Melanoma | DNA sequencing | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 770 - 776
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 06/2019, Volume 60, Issue 7, pp. 2764 - 2772
PURPOSE. To analyze the activity of mitogen-activated protein kinase (MAPK) and phosphoinositide 3-kinases/mechanistic target of rapamycin (PI3K/mTOR) pathways... 
MAPK pathway | HARBOR BRAF | conjunctiva | COMBINED NIVOLUMAB | melanoma | IMPROVED SURVIVAL | BRAF | OPEN-LABEL | MALIGNANT-MELANOMA | NRAS MUTATIONS | CELL-LINES | PI3K INHIBITOR | mutations | UVEAL MELANOMA | BRAF MUTATIONS | OPHTHALMOLOGY
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 12/2012, Volume 96, Issue 12, pp. 1530 - 1540
  According to the recent literature, and assuming that this analysis is also representative of the intraocular tumour part, such a result is correlated with a... 
EYES | RISK-FACTORS | UVEAL MELANOMA | SURVIVAL PROBABILITY | GROWTH | OPHTHALMOLOGY | COLLABORATIVE OCULAR MELANOMA | PROTON-BEAM RADIOTHERAPY | Choroid | Diseases | Ultrasonic imaging | Researchers | Medical prognosis | Melanoma | Metastasis | Gene expression | Tumors | Education | Imaging | Diagnostic tests | Investigation | Genetics | Neoplasia | 1506
Journal Article
Dermatopathology, ISSN 2296-3529, 06/2019, Volume 6, Issue 2, pp. 50 - 62
Purpose: To assess the role of the canonical Wnt pathway via activation of β-catenin in tumor progression of conjunctival melanoma. Methods: β-Catenin... 
Research Article | Eye | Melanogenesis | Conjunctiva | Melanoma
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, p. 1190
  Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we... 
Pathogenesis | Genomics | Melanoma | Metastasis | Mutation | Deoxyribonucleic acid--DNA
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, p. 770
  Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical... 
Deafness | Genetic disorders | Eye diseases | Mutation | Cells
Journal Article
Journal Article