- One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type BAli R Afzal
Medical Genetics Unit, St George s Hospital Medical School, London, UK
Hum Mutat 22:1-11. 2003..This condition is characterized by terminal deficiency of fingers and toes. A variety of mutations have been reported in ROR2. Here, these genetic defects are compiled and possible genotype-phenotype correlations are discussed...
- Association of Met439Thr substitution in heat shock protein 70 gene with postoperative atrial fibrillation and serum HSP70 protein levelsAli R Afzal
Department of Clinical Developmental Sciences, St George s University of London, London, UK
Cardiology 110:45-52. 2008..Previously, we have shown that higher expression of heat shock protein (HSP) 70 was associated with decreased incidence of postoperative AF (PoAF), suggestive of an antiarrhythmic role...
- Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulumBassam R Ali
Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates
Hum Genet 122:389-95. 2007....