M J Nowaczyk

Summary

Country: Canada

Publications

  1. ncbi Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings
    M J Nowaczyk
    Department of Pathology and Laboratory Medicine, Hamilton Health Sciences Corporation and McMaster University, Ontario, Canada
    Am J Med Genet 78:419-23. 1998
  2. ncbi Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity?
    M J Nowaczyk
    Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
    Clin Dysmorphol 7:263-8. 1998
  3. ncbi Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, Hamilton Health Sciences Corporation and McMaster University, Hamilton, Canada
    Am J Med Genet 91:261-6. 2000
  4. ncbi The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario, Canada L8S 4J9
    Clin Genet 59:375-86. 2001
  5. ncbi Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Canada
    Am J Med Genet 103:75-80. 2001
  6. ncbi Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, 1200 Main Street West, Hamilton, Ontario L8S 4JP, Canada
    Am J Med Genet 102:383-6. 2001
  7. ncbi Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet 102:18-20. 2001
  8. ncbi Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada
    Am J Med Genet 95:396-8. 2000
  9. ncbi Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet 103:223-5. 2001
  10. ncbi DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet 100:162-3. 2001

Detail Information

Publications15

  1. ncbi Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings
    M J Nowaczyk
    Department of Pathology and Laboratory Medicine, Hamilton Health Sciences Corporation and McMaster University, Ontario, Canada
    Am J Med Genet 78:419-23. 1998
    ..Our report suggests that cases of mild SLO remain undiagnosed and untreated, and that awareness of this common cause of mental retardation is low...
  2. ncbi Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity?
    M J Nowaczyk
    Division of Clinical Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
    Clin Dysmorphol 7:263-8. 1998
    ..The abnormalities observed in this patient overlap with those of WRS, Cockayne syndrome, type A (CSA), and osteodysplastic primordial dwarfism type III (OPD III), but also include choanal atresia and pigmentary retinopathy...
  3. ncbi Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, Hamilton Health Sciences Corporation and McMaster University, Hamilton, Canada
    Am J Med Genet 91:261-6. 2000
    ..This case offers a unique insight into the antenatal and postnatal development of the hamartoneoplastic lesions of ECCL, and it highlights the difficulties inherent in the antenatal sonographic diagnosis of hamartoneoplastic syndromes...
  4. ncbi The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario, Canada L8S 4J9
    Clin Genet 59:375-86. 2001
    ..SLOS is the first metabolic malformation syndrome with profound effects on the body plan, and its discovery has paved the way to the discovery of a number of other defects of the cholesterol synthetic pathway...
  5. ncbi Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Canada
    Am J Med Genet 103:75-80. 2001
    ....
  6. ncbi Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, 1200 Main Street West, Hamilton, Ontario L8S 4JP, Canada
    Am J Med Genet 102:383-6. 2001
    ..Ours is the first report of the IVS8-1G-->C mutation in persons of African ancestry. Published 2001 Wiley-Liss, Inc...
  7. ncbi Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet 102:18-20. 2001
    ..This observation has implications for prenatal and newborn screening for this potentially treatable inherited disorder...
  8. ncbi Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada
    Am J Med Genet 95:396-8. 2000
    ....
  9. ncbi Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet 103:223-5. 2001
    ..We present a fourth patient with a severe form of SLOS and adrenal insufficiency who had unexplained persistent hypertension, a combination of signs that has not been reported previously in SLOS...
  10. ncbi DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet 100:162-3. 2001
    ..By extension, the two unrelated mothers were both heterozygous for IVS8-1G-->C. This finding supports the notion of a high carrier frequency of the IVS8-1G-->C null mutation in Northern European Caucasians...
  11. ncbi Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine and Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Corporation and McMaster University, Hamilton, Canada
    Am J Med Genet 87:78-81. 1999
    ..To our knowledge, this combination of anomalies has not been reported previously, and thus we propose it to be a formal genesis syndrome...
  12. ncbi Central nervous system malformations in ethylmalonic encephalopathy
    M J Nowaczyk
    Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada
    Am J Med Genet 75:292-6. 1998
    ..We report on 2 sibs with confirmed ethylmalonic encephalopathy and malformations of the central nervous system; one with tethered cord, the other with cerebellar tonsillar ectopia (Chiari I malformation)...
  13. ncbi Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, Hamilton Health Sciences Corporation and McMaster University, Canada
    Clin Genet 57:388-93. 2000
    ..Immunohistochemical studies showed intact dopaminergic pathways in the mesencephalon, suggesting that midbrain dopamine neuron induction appears to require only one functioning SHH allele...
  14. ncbi Anesthetic considerations in Smith-Lemli-Opitz syndrome
    P T Choi
    Department of Anaesthesia, St Joseph s Hospital, Hamilton, Ontario, Canada
    Can J Anaesth 47:556-61. 2000
    ..This report describes our institution's experience with SLOS patients undergoing anesthesia in Canada...
  15. ncbi Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case
    M J Nowaczyk
    Division of Clinical Genetics, University of Toronto, Ontario, Canada
    J Inherit Metab Dis 19:655-60. 1996
    ..We conclude that the bone marrow dysfunction and cherry-red spot are features of type IV Farber lipogranulomatosis that have not been previously recognized, and should be added to the clinical phenotypic description...