You are here
- Home
- gene duplication
gene duplication
- OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrumTristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, Geraldine Siegfried, Cédric Lecaignec, Laurence Bouneau, Madeleine Fannemel, Gaelle Salaun, Fanny Laffargue, Guillaume Martinez, Véronique Satre, Gaelle Vieville, Marie Bidart, Cecilia Soussi Zander, Ann-Charlotte Turesson, Miranda Splitt, Dorothee Reboul, Jean Chiesa, Philippe Khau Van Kien, Manon Godin, Nicolas Gruchy, Himanshu Goel, Elizabeth Palmer, Kalliope Demetriou, Carolyn Shalhoub, Caroline Rooryck, Charles CouttonJournal of Medical Genetics Jun 2023, 60 (6) 620-626; DOI: 10.1136/jmg-2022-108678
- New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elementsVanessa Luiza Romanelli Tavares, Sofia Ligia Guimarães-Ramos, Yan Zhou, Cibele Masotti, Suzana Ezquina, Danielle de Paula Moreira, Henk Buermans, Renato S Freitas, Johan T Den Dunnen, Stephen R F Twigg, Maria Rita Passos-BuenoJournal of Medical Genetics Sep 2022, 59 (9) 895-905; DOI: 10.1136/jmedgenet-2021-107825
- CLINICAL
- Cardiovascular medicine
- Arrhythmias (33)
- Cardiomyopathy (95)
- Hypertension (63)
- Valvar diseases (32)
- Dermatology (272)
- Diagnostics
- Endocrinology
- 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
- Gastroenterology
- Liver disease (56)
- Oesophagus (32)
- Pancreatitis (14)
- Small intestine
- Coeliac disease (15)
- Stomach and duodenum (16)
- Genetics
- Clinical genetics (289)
- Cytogenetics (26)
- Molecular genetics (1454)
- Infectious diseases
- Emerging infectious diseases
- Meningitis (3)
- Otitis (13)
- Travel medicine (4)
- Neurology
- Cerebral palsy (5)
- Dementia (35)
- Epilepsy and seizures (236)
- Hydrocephalus (19)
- Multiple sclerosis (25)
- Muscle disease (176)
- Neuromuscular disease (301)
- Neurooncology (89)
- Parkinson's disease (22)
- Peripheral nerve disease (106)
- Nutrition and metabolism
- Obesity (nutrition) (74)
- Obstetrics and gynaecology
- Reproductive medicine (586)
- Oncology
- Breast cancer (276)
- CNS cancer (53)
- Colon cancer (147)
- Endocrine cancer (65)
- Gene therapy (3)
- Hepatic cancer (9)
- Paediatric oncology (140)
- Prevention (6)
- Prostate cancer (29)
- Screening (oncology) (268)
- Urological cancer (79)
- Ophthalmology
- Eye Diseases (351)
- Glaucoma (22)
- Hereditary eye disease (103)
- Psychiatry
- Rehabilitation medicine
- Respiratory medicine
- Asthma (25)
- Cystic fibrosis (44)
- Rheumatology
- Osteoarthritis (13)
- Osteoporosis (19)
- Rheumatoid arthritis (18)
- Vascularitis (3)
- Surgery (120)
- NON-CLINICAL
- Epidemiology (722)
- Ethics (232)
- Special collections
- Editor's choice (125)
- Open access (324)
- Press releases (5)