Genetics

CLINICAL /
Genetics

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
I K Temple, V Shrubb, M Lever, H Bullman, D J G Mackay

Case Reports Jan 2009, 2009 bcr0620091997; DOI: 10.1136/bcr.06.2009.1997
Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature
M Carlson, M Silberbach

Case Reports Jan 2009, 2009 bcr0620091998; DOI: 10.1136/bcr.06.2009.1998
The C20orf133 gene is disrupted in a patient with Kabuki syndrome
Nicole M C Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Constance T R M Schrander-Stumpel, Damien Sanlaville, David Genevieve, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, Jean-Pierre Fryns, Joris R Vermeesch

Case Reports Jan 2009, 2009 bcr0620091994; DOI: 10.1136/bcr.06.2009.1994
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
Surya Prakash G Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Balasubramanya Ramamurthy, Chitra Kannabiran

Case Reports Jan 2009, 2009 bcr0620091995; DOI: 10.1136/bcr.06.2009.1995
Acquired syndactyly in epidermolysis bullosa dystrophica
Inusha Panigrahi, Ketan Kulkarni, Devi Dayal

Case Reports Jan 2009, 2009 bcr0420091785; DOI: 10.1136/bcr.04.2009.1785
Autism, language delay and mental retardation in a patient with 7q11 duplication
C Depienne, D Heron, C Betancur, B Benyahia, O Trouillard, D Bouteiller, A Verloes, E LeGuern, M Leboyer, A Brice

Case Reports Jan 2009, 2009 bcr0520091911; DOI: 10.1136/bcr.05.2009.1911
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, Valeria Tiranti, Massimo Zeviani

Case Reports Jan 2009, 2009 bcr0520091889; DOI: 10.1136/bcr.05.2009.1889
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
Anne Ronan, Kerry Fagan, Louise Christie, Jeffrey Conroy, Norma J Nowak, Gillian Turner

Case Reports Jan 2009, 2009 bcr0520091914; DOI: 10.1136/bcr.05.2009.1914
Port wine stain, soft tissue bone hypertrophy and leg ulcer
Aleksandar Jankovic, Ivana Binic, Milenko Stanojevic

Case Reports Jan 2009, 2009 bcr0120091452; DOI: 10.1136/bcr.01.2009.1452
Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA
Tihomir Todorov, Albena Todorova, Andrey Kirov, Boyan Dimitrov, Ralph Carvalho, Anders O H Nygren, Iliana Boneva, Vanyo Mitev

Case Reports Jan 2009, 2009 bcr0620080139; DOI: 10.1136/bcr.06.2008.0139

Pages

CLINICAL
- Anaesthesia (19)
- Cardiovascular medicine (152)
- Complementary medicine (2)
- Dentistry and oral medicine (20)
- Dermatology (76)
- Diagnostics
  - Clinical diagnostic tests (11)
  - Radiology (diagnostics) (27)
  - Surgical diagnostic tests (3)
- Diagnostics
- Drugs and medicines (246)
- Ear, nose and throat/otolaryngology (33)
- Emergency medicine
  - Disaster response
  - Poisoning (7)
  - Resuscitation (15)
  - Trauma (20)
- Emergency medicine (65)
- Endocrinology
  - Adrenal disorders (16)
  - Calcium and bone (13)
  - Diabetes (21)
  - Drugs: endocrine system (6)
  - Lipid disorders (5)
  - Metabolic disorders (9)
  - Pituitary disorders (11)
  - Thyroid disease (29)
- Endocrinology (92)
- Evidence based practice
  - Changing physician behavior
  - Effectiveness of care
  - Guidelines
- Gastroenterology (124)
- Gastroenterology
  - Drugs: gastrointestinal system (9)
  - Endoscopy (28)
  - GI bleeding (17)
  - Infection (gastroenterology) (12)
  - Inflammatory bowel disease (7)
  - Liver disease (19)
  - Neurogastroenterology
  - Oesophagus (9)
  - Pancreas and biliary tract (18)
  - Pancreatitis (9)
  - Portal hypertension (2)
  - Small intestine (11)
  - Stomach and duodenum (15)
- General practice / family medicine (29)
- Genetics
  - Clinical genetics
  - Cytogenetics
  - Genetic screening / counselling (9)
  - Molecular genetics
- Genetics (40)
- Geriatric medicine
  - Elder abuse
  - End of life decisions (geriatric medicine)
  - Long term care (2)
  - Psychogeriatrics
- Geriatric medicine (9)
- Haematology (incl blood transfusion) (59)
- HIV/AIDS (10)
- Immunology (including allergy) (50)
- Infectious diseases (148)
- Intensive care
  - Adult intensive care (26)
  - Mechanical ventilation (10)
  - Neonatal intensive care (11)
  - Paediatric intensive care (5)
- Intensive care (54)
- Neurology
  - Brain stem / cerebellum (13)
  - Cerebral palsy (1)
  - Clinical neurophysiology (6)
  - Coma and raised intracranial pressure (4)
  - Cranial nerves (7)
  - Dementia (6)
  - Drugs: CNS (not psychiatric) (4)
  - Epilepsy and seizures (19)
  - Headache (including migraine) (9)
  - Hydrocephalus (4)
  - Infection (neurology) (17)
  - Motor neurone disease (1)
  - Movement disorders (other than Parkinsons) (10)
  - Multiple sclerosis (2)
  - Muscle disease (5)
  - Neuroimaging (52)
  - Neurological injury (12)
  - Neuromuscular disease (10)
  - Neurooncology (12)
  - Neuroophthalmology (7)
  - Pain (neurology) (7)
  - Parkinson's disease (3)
  - Peripheral nerve disease (9)
  - Sleep disorders (neurology) (1)
  - Spinal cord (14)
  - Stroke (32)
  - Trauma CNS / PNS (4)
  - Variant Creutzfeld-Jakob Disease (1)
- Neurology (206)
- Nursing (5)
- Nutrition and metabolism
  - Childhood nutrition
  - Diet (5)
  - Malnutrition (3)
  - Obesity (nutrition) (2)
  - Vitamins and supplements (4)
- Nutrition and metabolism (13)
- Obstetrics and gynaecology (69)
- Oncology (179)
- Ophthalmology (71)
- Orthopaedics (37)
- Paediatrics
  - Adolescent health
  - Bilirubin disorders
  - Child abuse (1)
  - Child and adolescent psychiatry (paedatrics) (3)
  - Child health
  - Childhood nutrition (paediatrics) (2)
  - Congenital disorders (36)
  - Developmental paediatrics (4)
  - Failure to thrive (2)
  - Infant health (6)
  - Infant nutrition (including breastfeeding)
  - Materno-fetal medicine (7)
  - Neonatal and paediatric intensive care (10)
  - Neonatal health (15)
  - SIDS
- Paediatrics (106)
- Palliative care
  - End of life decisions (palliative care)
  - Hospice
  - Pain (palliative care)
- Palliative care (2)
- Pathology
  - Chemical pathology
  - Cytopathology
  - Histopathology
  - Inflammation
  - Microbiology
  - Microscopy
  - Molecular biology
  - Morbid anatomy / surgical pathology
  - Neuropathology
  - Virology
- Pathology (62)
- Pharmacology and therapeutics
  - Drug misuse (including addiction) (2)
  - Medicines regulation
  - Toxicology (3)
  - Unwanted effects / adverse reactions (37)
- Pharmacology and therapeutics (59)
- Prison medicine
- Psychiatry
  - Adjustment disorders
  - Alcohol-related disorders
  - Anxiety disorders (including OCD and PTSD) (1)
  - Child and adolescent psychiatry
  - Delirium (2)
  - Drugs misuse (including addiction) (3)
  - Drugs: psychiatry (4)
  - Eating disorders (2)
  - Impulse control disorders (1)
  - Memory disorders (psychiatry) (5)
  - Mood disorders (including depression) (2)
  - Personality disorders
  - Psychiatry of old age (2)
  - Psychotherapy (1)
  - Psychotic disorders (incl schizophrenia) (8)
  - Sexual and gender disorders (2)
  - Sleep disorders
  - Somatoform disorders (1)
  - Suicide (psychiatry) (1)
- Psychiatry (29)
- Radiology (104)
- Rehabilitation medicine
  - Continuing medical education
  - Disability
  - Other rehabilitative therapies
  - Physiotherapy (5)
- Rehabilitation medicine (6)
- Renal medicine
  - Acute renal failure (20)
  - Chronic renal failure (9)
  - Dialysis (6)
  - Fluid electrolyte and acid-base disturbances (8)
  - Nephrotic syndrome (5)
  - Proteinurea (9)
  - Renal transplantation (5)
- Renal medicine (52)
- Respiratory medicine (73)
- Rheumatology
  - Ankylosing spondylitis (2)
  - Biological agents (3)
  - Connective tissue disease (10)
  - Degenerative joint disease
  - Drugs: musculoskeletal and joint diseases (5)
  - Fibromyalgia (1)
  - Musculoskeletal syndromes (9)
  - Osteoarthritis (2)
  - Osteoporosis (2)
  - Rheumatoid arthritis (5)
  - Sjogren's syndrome (3)
  - Systemic lupus erythematosus (11)
  - Vascularitis (23)
- Rheumatology (68)
- Sexual health (14)
- Sports and exercise medicine (12)
- Surgery
  - Breast surgery (7)
  - Cardiothoracic surgery (28)
  - Gastrointestinal surgery (75)
  - General surgery (72)
  - Neurosurgery (37)
  - Oral and maxillofacial surgery (8)
  - Orthopaedic and trauma surgery (20)
  - Otolaryngology / ENT (26)
  - Plastic and reconstructive surgery (24)
  - Surgical oncology (32)
  - Transplantation (10)
  - Urological surgery (18)
  - Vascular surgery (21)
- Surgery (325)
- Urology (32)
NON-CLINICAL
- Communication
- Epidemiology
  - Clinical trials (epidemiology)
  - Epidemiologic studies
  - Population trends
  - Screening (epidemiology)
  - Survey techniques
  - Therapeutic trials
  - Time-to-event methods
- Ethics
  - Artificial and donated transplantation
  - Assisted dying
  - Bioethics
  - Clinical ethics
  - Codes of professional ethics
  - Competing interests (ethics)
  - Confidentiality
  - Drug issues
  - End of life decisions (ethics)
  - Ethics of abortion
  - Ethics of reproduction
  - Experiments in vivo
  - Informed consent
  - Research and publication ethics
  - Sexuality / gender
- Ethics (2)
- Ethnic studies
- Health economics
- Health informatics
  - Information management
  - Internet
  - IT
  - Telemedicine
- Health policy
- Health service research
- Journalology
- Legal and forensic medicine
- Medical careers
  - Choosing / changing career
  - Combining life and work
  - Communication
  - Continuous professional development
  - Flexible training
  - Getting and changing jobs
  - Getting and changing jobs (including job descriptions and contracts)
  - Leaving medicine
  - Medical careers
  - Organise and prepare your CV
  - Organise working abroad
  - Pay, working conditions, and health
  - Personal development
  - Portfolio development
  - Prepare for appraisal
  - Prepare for interview
  - Professional conduct and regulation
  - Professional regulation and standards
  - Retirement
- Medical education
  - History taking and the physical examination
  - Postgraduate
  - Undergraduate
- Medical education (11)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (17)
- Occupational and environmental medicine (19)
- Patients
- Public health
  - Abuse (child, partner, elder)
  - Air pollution
  - Alcohol
  - Drug misuse
  - Environmental issues
  - Health education
  - Health of indigenous peoples
  - Health promotion
  - Homicide
  - Housing and health
  - Human rights
  - Injury
  - Obesity (public health)
  - Screening (public health)
  - Sexual health (public health)
  - Smoking
  - Social conditions and disease
  - Suicide (public health)
  - Urban health
  - Vaccination programs
  - Violence (other)
  - Violence against women
- Public health (15)
- Smoking and tobacco (2)
- Sociology
- Statistics and research methods
  - Comparative effectiveness research
  - Qualitative research
  - Quantitative research
- Statistics and research methods (1)
Special collections

Log in using your username and password

Main menu

Log in using your username and password

You are here

Genetics

Pages