Smith-Lemli-Opitz syndrome

2000 - 2002 - Concluded

Malgorzata J.M. Nowaczyk, MD

Study results can be found in

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

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

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

Electronic Reporting Option