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Małgorzata J. M. Nowaczyk

Department of Pathology and Molecular Medicine

Hamilton Health Sciences Corporation and McMaster University

Canada

[email]@hhsc.ca

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Department of Pathology and Molecular Medicine and Department of Pediatrics, McMaster University McMaster University Medical Centre, Room 3N16, 1200 Main Street West. 2012
  • Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada. 2000 - 2012
  • Clinical Genetics, McMaster University, Hamilton, Ontario, Canada. 2003 - 2011
  • Department of Pediatrics, McMaster University Medical Center, 1200 Main Street West, Hamilton. 2003

References

  1. Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology. Nowaczyk, M.J., Irons, M.B. Am. J. Med. Genet. C. Semin. Med. Genet (2012) [Pubmed]
  2. Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. Nowaczyk, M.J., Cunniff, C. Am. J. Med. Genet. C. Semin. Med. Genet (2012) [Pubmed]
  3. Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. Nowaczyk, M.J., Tan, M., Hamid, J.S., Allanson, J.E. Am. J. Med. Genet. A (2012) [Pubmed]
  4. Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome). Nowaczyk, M.J. Am. J. Med. Genet. A (2011) [Pubmed]
  5. DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?. Nowaczyk, M.J., Waye, J.S., Douketis, J.D. Am. J. Med. Genet. A (2006) [Pubmed]
  6. Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: a new case and review of the literature. Nowaczyk, M.J., Zeesman, S., Kam, A., Taylor, S.A., Carter, R.F., Whelan, D.T. Am. J. Med. Genet. A (2004) [Pubmed]
  7. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Martin-Garcia, D., Aquino-Perna, A., Rodriguez-Vazquez, M., McCaughey, D., Eng, B., Nakamura, L.M., Waye, J.S. Am. J. Med. Genet. A (2004) [Pubmed]
  8. Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. Nowaczyk, M.J., Zeesman, S., Waye, J.S., Douketis, J.D. J. Pediatr. (2004) [Pubmed]
  9. De novo 1q32q44 duplication and distal 1q trisomy syndrome. Nowaczyk, M.J., Bayani, J., Freeman, V., Watts, J., Squire, J., Xu, J. Am. J. Med. Genet. A (2003) [Pubmed]
  10. Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. Nowaczyk, M.J., Zeesman, S., Whelan, D.T., Wright, V., Feather, S.A. Am. J. Med. Genet. A (2003) [Pubmed]
  11. DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Heshka, T., Eng, B., Feigenbaum, A.J., Waye, J.S. Am. J. Med. Genet. (2001) [Pubmed]
  12. The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. Nowaczyk, M.J., Waye, J.S. Clin. Genet. (2001) [Pubmed]
  13. Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. Nowaczyk, M.J., McCaughey, D., Whelan, D.T., Porter, F.D. Am. J. Med. Genet. (2001) [Pubmed]
  14. Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Nakamura, L.M., Eng, B., Porter, F.D., Waye, J.S. Am. J. Med. Genet. (2001) [Pubmed]
  15. Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. Nowaczyk, M.J., Farrell, S.A., Sirkin, W.L., Velsher, L., Krakowiak, P.A., Waye, J.S., Porter, F.D. Am. J. Med. Genet. (2001) [Pubmed]
  16. Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Siu, V.M., Krakowiak, P.A., Porter, F.D. Am. J. Med. Genet. (2001) [Pubmed]
  17. DHCR7 and Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Nakamura, L.M., Waye, J.S. Clin. Invest. Med (2001) [Pubmed]
  18. Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.. Nowaczyk, M.J., Huggins, M.J., Tomkins, D.J., Rossi, E., Ramsay, J.A., Woulfe, J., Scherer, S.W., Belloni, E. Clin. Genet. (2000) [Pubmed]
  19. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Heshka, T., Kratz, L.E., Kelley, R.E. Am. J. Med. Genet. (2000) [Pubmed]
 
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