Leber congenital amaurosis

Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis
Zhen Yi, Jiamin Ouyang, Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Qingjiong Zhang

Journal of Medical Genetics May 2019, 56 (5) 325-331; DOI: 10.1136/jmedgenet-2018-105709

CLINICAL
- Cardiovascular medicine
  - Arrhythmias (33)
  - Cardiomyopathy (95)
  - Congenital heart disease (93)
  - Hypertension (63)
  - Ischaemic heart disease (48)
  - Valvar diseases (32)
  - Venous thromboembolism (4)
- Dermatology (272)
- Diagnostics
  - Clinical diagnostic tests (399)
  - Surgical diagnostic tests (120)
- Drugs and medicines
- Endocrinology
  - Adrenal disorders (9)
  - Calcium and bone (344)
  - Diabetes (113)
  - Drugs: endocrine system (125)
  - Lipid disorders (34)
  - Metabolic disorders (386)
  - Pituitary disorders (13)
  - Thyroid disease (24)
- Evidence based practice
  - Critical appraisal literature
- Gastroenterology
  - Infection (gastroenterology) (2)
  - Inflammatory bowel disease (17)
  - Liver disease (56)
  - Neurogastroenterology (24)
  - Oesophagus (32)
  - Pancreas and biliary tract (124)
  - Pancreatitis (14)
  - Portal hypertension (2)
  - Small intestine
    - Coeliac disease (15)
  - Stomach and duodenum (16)
- Genetics
  - Clinical genetics (289)
  - Cytogenetics (26)
  - Genetic screening / counselling (1075)
  - Molecular genetics (1454)
- Haematology (incl blood transfusion) (8)
- Immunology (including allergy) (732)
- Infectious diseases
  - Bone and joint infections (1)
  - Drugs: infectious diseases (45)
  - Emerging infectious diseases
    - Bird flu
  - Foodborne infections (2)
  - Hepatitis and other GI infections (9)
  - Influenza
  - Meningitis (3)
  - Nosocomial infections
  - Otitis (13)
  - Pneumonia (infectious disease) (4)
  - TB and other respiratory infections (25)
  - Travel medicine (4)
  - Tropical medicine (infectious diseases) (7)
  - Urinary tract infections (1)
  - Vaccination / immunisation (4)
- Neurology
  - Cerebral palsy (5)
  - Cranial nerves
  - Dementia (35)
  - Drugs: CNS (not psychiatric)
  - Epilepsy and seizures (236)
  - Headache (including migraine) (8)
  - Hydrocephalus (19)
  - Infection (neurology)
  - Motor neurone disease (22)
  - Movement disorders (other than Parkinsons) (54)
  - Multiple sclerosis (25)
  - Muscle disease (176)
  - Neuroimaging
  - Neurological injury
  - Neuromuscular disease (301)
  - Neurooncology (89)
  - Pain (neurology)
  - Parkinson's disease (22)
  - Peripheral nerve disease (106)
  - Sleep disorders (neurology)
  - Spinal cord
  - Stroke
  - Trauma CNS / PNS
  - Variant Creutzfeld-Jakob Disease
- Nutrition and metabolism
  - Obesity (nutrition) (74)
- Obstetrics and gynaecology
  - Reproductive medicine (586)
- Oncology
  - Breast cancer (276)
  - Cancer: dermatological (50)
  - CNS cancer (53)
  - Colon cancer (147)
  - Endocrine cancer (65)
  - Gastric cancer
  - Gene therapy (3)
  - Head and neck cancer (7)
  - Hepatic cancer (9)
  - Lung cancer (oncology) (16)
  - Oesophageal cancer (6)
  - Paediatric oncology (140)
  - Prevention (6)
  - Prostate cancer (29)
  - Screening (oncology) (268)
  - Urological cancer (79)
- Ophthalmology
  - Eye Diseases (351)
  - Glaucoma (22)
  - Hereditary eye disease (103)
  - Neuroophthalmology
  - Visual development (9)
- Psychiatry
  - Memory disorders (psychiatry) (80)
  - Psychotic disorders (incl schizophrenia) (33)
- Rehabilitation medicine
  - Disability
  - Other rehabilitative therapies
  - Physiotherapy
- Respiratory medicine
  - Asthma (25)
  - Cystic fibrosis (44)
  - Interstitial lung disease (11)
  - Pulmonary emphysema (3)
  - Pulmonary hypertension (7)
- Rheumatology
  - Connective tissue disease (113)
  - Osteoarthritis (13)
  - Osteoporosis (19)
  - Rheumatoid arthritis (18)
  - Systemic lupus erythematosus (8)
  - Vascularitis (3)
- Surgery (120)
NON-CLINICAL
- Epidemiology (722)
- Ethics (232)
- Medical humanities
Special collections
- Editor's choice (125)
- Guidelines, Recommendations and Consensus Statements
- JMG Online mutation reports (169)
- Open access (324)
- Press releases (5)

Log in using your username and password

Main menu

Log in using your username and password

You are here

Leber congenital amaurosis