Smith-Lemli-Opitz syndrome
2000 - 2002 - Concluded
Malgorzata J.M. Nowaczyk, MD
Study results can be found in
CPSP 2002 Results
CPSP Highlights
Surveillance of rare genetic disorders: No longer orphan diseases
Paediatr Child Health 2003;8(1):55
CPSP 2002 Results: What have we learned?
Paediatr Child Health 2003;8(7):447
Smith-Lemli-Opitz syndrome: Which laboratory test confirms the diagnosis?
Paediatr Child Health 2001;6(7):428
Published papers
Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance
Nowaczyk MJM, Waye JS, Zeesman S, Douketis JD. J Pediatr 2004;145(4):530-5
Resource articles
- Smith-Lemli-Opitz syndrome (2001)
Presentations
Surveillance helping patients with orphan genetic disorders
Desantadina MV, Blake KD, Nowaczyk MJM. Annual Meeting of the Canadian Paediatric Society, Calgary, in June 2003
Postmortem molecular diagnosis of Smith-Lemli-Opitz syndrome (SLOS) in a fetus with renal agenesis
Nowaczyk MJM, Sirkin WS, Farrell SA, Eng B, Waye JS. Am J Hum Genet 2001 (in press). Annual Meeting of the American Society of Human Genetics, Dan Diego, in October 2001
Canadian Paediatric Surveillance Program
Nowaczyk MJM. Association of Genetic Colleagues of Ontario Annual Educational Conference, Hamilton, in June 2001
Molecular diagnosis of Smith-Lemli-Opitz syndrome
Nowaczyk MJM. Third International Smith-Lemli-Opitz/RSH Syndrome Scientific Symposium, Detroit, in June 2001
Incidence of Smith-Lemli-Opitz syndrome
Nowaczyk MJM. Third International Smith-Lemli-Opitz/RSH Syndrome Scientific Symposium, Detroit, in June 2001
Canadian Paediatric Surveillance Program: Year I results for Smith-Lemli-Opitz syndrome
Nowaczyk MJM. Paediatric Grand Rounds, Institute Monument-Centre of Child Health, Warsaw, Poland, in April 2001