3768 results
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
Marfan Syndrome - Signs ... - Caused by mutations ... Syndrome #Diagnosis #Signs
Distal Renal Tubular Acidosis
Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... defect - ENaC mutation ... - SCNN mutation ... HTN (WNKI and 4 mutations
CT Lung Signs in Pulmonary Diseases - One Page Summary of Pulmonary Signs
 - Air Crescent
CT Lung Signs in ... - Air Crescent sign ... - Monod sign ... sign - Corona ... #differential #radiology
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
precursor protein mutations ... Presenilin 1 and 2 gene mutations ... chromosome 21) Signs ... geriatrics #diagnosis #signs
Cystic Fibrosis 
An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Mutations affect ... CysticFibrosis #Signs
Gardner's Syndrome
Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Associated with mutation ... Polyposis #Diagnosis #Signs
Abdominal Pain - Physical Examination Signs and Maneuvers
 - Murphy's sign
 - Kehr's sign
 - McBurney's
- Kehr's sign ... - McBurney's sign ... - Psoas sign ... - Obturator's sign ... - Cough sign
Corrigan's Sign in Severe Aortic Regurgitation

- Dr. Andres S. Kohan https://twitter.com/KohanAndres

#Corrigans #AorticRegurgitation #Pulse #PhysicalExam #Video #Neck
Corrigan's Sign ... #Video #Neck #Signs ... #Cardiology #Clinical
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
findings • Sporadic mutation ... • Inherited mutation ... Retinoblastoma Signs ... ophthalmology #diagnosis #signs