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Journal Article
Journal of Ophthalmic and Vision Research, ISSN 2008-2010, 01/2017, Volume 12, Issue 1, pp. 3 - 10
To report the chorioretinal coloboma, and its association with increased risk of retinal detachment (RD) and choroidal neovascularization (CNV). This... 
Choroidal Coloboma | Retinal Detachment | Choroidal Neovascular Membrane | Retinal detachment | Complications and side effects | Coloboma | Choroid | Research | Neovascularization | Health aspects | Risk factors | Original | Choroidal Coloboma; Choroidal Neovascular Membrane; Retinal Detachment
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 07/2013, Volume 97, Issue 7, pp. 945 - 946
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2010, Volume 19, Issue 14, pp. 2858 - 2866
CHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g. hereditary... 
RNA-POLYMERASE-II | HEART-DISEASE | CHROMATIN REMODELING FACTOR | MENTAL-RETARDATION | GENE | CHOANAL ATRESIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MULTIPLE ANOMALIES | MUTATIONS | BINDING PROTEIN | PHENOTYPIC SPECTRUM | Abnormalities, Multiple - metabolism | Protein Binding - genetics | Deafness - genetics | Sexual Infantilism - genetics | Developmental Disabilities - metabolism | Protein Interaction Domains and Motifs - physiology | Humans | Coloboma - genetics | Developmental Disabilities - genetics | Choanal Atresia - complications | DNA-Binding Proteins - metabolism | Heart Defects, Congenital - genetics | Mutation - physiology | Sexual Infantilism - complications | Transfection | Protein Interaction Domains and Motifs - genetics | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Coloboma - complications | Choanal Atresia - genetics | Ear - abnormalities | DNA-Binding Proteins - genetics | Syndrome | Transcription Factors - metabolism | DNA Helicases - metabolism | Sexual Infantilism - metabolism | Two-Hybrid System Techniques | Choanal Atresia - metabolism | Heart Defects, Congenital - complications | Deafness - complications | Deafness - metabolism | Heart Defects, Congenital - metabolism | Coloboma - metabolism | HeLa Cells | Deafness - congenital | Developmental Disabilities - complications | Index Medicus
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 12/2013, Volume 61, Issue 12, pp. 763 - 765
A 67-year-old former gold miner with rheumatoid arthritis, treated with steroids and methotrexate, presented to eye casualty with a painful right eye.... 
Phaeohyphomycosis | pigmented fungi | subretinal abscess | subretinal biopsy | OPHTHALMOLOGY | Phaeohyphomycosis - diagnosis | Abscess - diagnosis | Diagnosis, Differential | Eye Infections, Fungal - diagnosis | Humans | Male | Abscess - complications | Eye Infections, Fungal - complications | Arthritis, Rheumatoid - complications | Endophthalmitis - complications | Tuberculosis, Pulmonary - complications | Retina - microbiology | Phaeohyphomycosis - complications | Biopsy | Tuberculosis, Pulmonary - diagnosis | Endophthalmitis - diagnosis | Aged | Arthritis, Rheumatoid - diagnosis | Retina - pathology | Case studies | Care and treatment | Lung diseases | Physiological aspects | Mycoses | Eye diseases | Diagnosis | Joint diseases | Polymerase chain reaction | Pathology | Substance abuse treatment | Tuberculosis | Histopathology | Family medical history | Index Medicus | Brief Communication | optimizing donor tissue utilization | spectacles use | Prevalence | uncorrected refractive errors | rapid | death to enucleation time | cross-sectional studies | Bevacizumab | indo cyanine green angiography | Clinical features | death to preservation time | Clinical donor tissue grading | Coloboma of the choroid | vascular pattern | Traumatic chiasmal syndrome | drug-induced | esotropia | neurosensory retinal cells | eye bank specular microscopy | mitochondrial function | endodiathermy bipolar probe | retinal nerve fiber layer thickness | tissue culture | Biological amniotic membrane | rapid assessment of refractive errors | GDx variable corneal compensation | lutein | DCR | strabismus | subacute cutaneous lupus erythematosus | retinal vasculitis | nasolacrimal duct obstruction | pediatric aphakia | Aphakia | carotenoids | visual field | Thailand | ranibizumab | Bitemporal hemianopia | vanadium steel | retina | Amblyopia | secondary intraocular lens implantation | retinal pigment epithelial cells | visual impairment | steel suture | Children | Drug reaction | coloboma optic disc | probing | normal | complications | Duane syndrome | trabeculectomy | microvascular endothelial cells | recanalize | etiology | 5-fluorouracil | Age-related macular degeneration | Indian | inadequate capsular support | trans-scleral fixation
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 546 - 549
Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part... 
acute myeloid leukemia | gene | Baraitser–Winter malformation syndrome | craniofrontofacial syndromes | Fryns–Aftimos syndrome | ACTB | ACTG1 | ACTB gene | ACTG1 gene | Fryns-Aftimos syndrome | FRONTO-FACIAL SYNDROME | CANCER | Baraitser-Winter malformation syndrome | RETARDATION | MALFORMATIONS | COLOBOMA | COSTELLO-SYNDROME | GENETICS & HEREDITY | PTOSIS | MUTATIONS | Translocation, Genetic | Lissencephaly - diagnosis | Genetic Testing | Humans | Intellectual Disability - complications | Leukemia, Myeloid, Acute - etiology | Brain - abnormalities | Intellectual Disability - genetics | Young Adult | Facies | Electrocardiography | Leukemia, Myeloid, Acute - drug therapy | Epilepsy - genetics | Female | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Lissencephaly - complications | Treatment Outcome | Bone Marrow Examination | Epilepsy - complications | Epilepsy - diagnosis | Magnetic Resonance Imaging | Leukemia, Myeloid, Acute - diagnosis | Comparative Genomic Hybridization | Craniofacial Abnormalities - diagnosis | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Lissencephaly - genetics | Mutation | Lymphomas | Missense mutation | Winter | Myeloid leukemia | Leukemia | Chromosome 7 | Lymphatic leukemia | Acute myeloid leukemia | Lymphoma | Mental retardation | Cancer | Index Medicus
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