Małgorzata J M Nowaczyk

Summary

Affiliation: McMaster University
Country: Canada

Publications

  1. pmc Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, Hamilton Health Sciences Corporation, Ont
    CMAJ 161:165-70. 1999
  2. ncbi request reprint DHCR7 and Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University and Hamilton Regional Laboratory Medicine Program, Ont
    Clin Invest Med 24:311-7. 2001
  3. ncbi request reprint De novo 1q32q44 duplication and distal 1q trisomy syndrome
    Małgorzata J M Nowaczyk
    Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 120:229-33. 2003
  4. doi request reprint Narrative medicine: a call to pens
    Małgorzata J M Nowaczyk
    Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 161:2117-8. 2013
  5. doi request reprint Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine and Department of Pediatrics, McMaster University McMaster University Medical Centre, Room 3N16, 1200 Main Street West, Hamilton ON, Canada L8S 4J9
    Am J Med Genet C Semin Med Genet 160:250-62. 2012
  6. doi request reprint Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet C Semin Med Genet 160:239-41. 2012
  7. doi request reprint Narrative medicine in clinical genetics practice
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University Medical Centre, Hamilton, Ontario, Canada
    Am J Med Genet A 158:1941-7. 2012
  8. pmc Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
    Patrícia Bs Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Cytogenet 5:17. 2012
  9. doi request reprint Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 158:1020-8. 2012
  10. ncbi request reprint Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification
    Malgorzata J M Nowaczyk
    Department of Pediatrics, McMaster University Medical Center, 1200 Main Street West, Hamilton, Ontario, Canada L8S 4J9
    Am J Med Genet A 123:179-82. 2003

Collaborators

Detail Information

Publications38

  1. pmc Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, Hamilton Health Sciences Corporation, Ont
    CMAJ 161:165-70. 1999
    ..Increased awareness of Smith-Lemli-Opitz syndrome is needed to identify affected patients so that they and their families can benefit from appropriate treatment and genetic counselling...
  2. ncbi request reprint DHCR7 and Smith-Lemli-Opitz syndrome
    M J Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University and Hamilton Regional Laboratory Medicine Program, Ont
    Clin Invest Med 24:311-7. 2001
  3. ncbi request reprint De novo 1q32q44 duplication and distal 1q trisomy syndrome
    Małgorzata J M Nowaczyk
    Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 120:229-33. 2003
    ....
  4. doi request reprint Narrative medicine: a call to pens
    Małgorzata J M Nowaczyk
    Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 161:2117-8. 2013
    ..It is an invitation to the readership of the American Journal of Medical Genetics to share its stories of caring for and living with genetic conditions in our new column called Frameshifts...
  5. doi request reprint Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine and Department of Pediatrics, McMaster University McMaster University Medical Centre, Room 3N16, 1200 Main Street West, Hamilton ON, Canada L8S 4J9
    Am J Med Genet C Semin Med Genet 160:250-62. 2012
    ..This review discusses the physical and behavioral phenotype of SLOS, the diagnostic approaches, the natural history from the prenatal period to adulthood, and current understanding of the pathophysiology of SLOS...
  6. doi request reprint Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet C Semin Med Genet 160:239-41. 2012
    ..Leading experts in their fields present clinical, behavioral, molecular, and therapeutic aspects of these disorders...
  7. doi request reprint Narrative medicine in clinical genetics practice
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University Medical Centre, Hamilton, Ontario, Canada
    Am J Med Genet A 158:1941-7. 2012
    ..It presents the major types of illness narratives whose recognition allows us to hear and understand patients' stories. When used, the tools of narrative medicine can result in better patient care...
  8. pmc Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
    Patrícia Bs Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Cytogenet 5:17. 2012
    ..The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay...
  9. doi request reprint Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 158:1020-8. 2012
    ..001 and P < 0.002, respectively), suggesting that the degree of deviation from craniofacial norms is a function of the overall physical severity...
  10. ncbi request reprint Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification
    Malgorzata J M Nowaczyk
    Department of Pediatrics, McMaster University Medical Center, 1200 Main Street West, Hamilton, Ontario, Canada L8S 4J9
    Am J Med Genet A 123:179-82. 2003
    ..We report this family in order to clarify and simplify the classification of the oral-facial-digital syndrome spectrum and to recommend the removal of OFD VII from the classification system of the oral-facial-digital syndromes...
  11. ncbi request reprint Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: a new case and review of the literature
    Małgorzata J M Nowaczyk
    Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Corporation, and Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 125:73-6. 2004
    ..Given the information from the literature and presented herein, we suggest that genetic counseling for cases of PWS and 47,XXY should address these two conditions separately...
  12. ncbi request reprint Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada
    Am J Med Genet A 125:173-6. 2004
    ..Our identification of a single haplotype associated with the T93M mutation in patients whose ancestors originate in the region of the Mediterranean Sea basin suggests a founder effect...
  13. ncbi request reprint Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance
    Małgorzata J M Nowaczyk
    Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
    J Pediatr 145:530-5. 2004
    ..SLOS is a treatable genetic condition that may be difficult to diagnose in its mildest form because of nonspecific clinical markers (two- to three-toe webbing, short upturned nose, and micrognathia)...
  14. ncbi request reprint DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada
    Am J Med Genet A 140:2057-62. 2006
    ..In order to reconcile the above-mentioned paradoxes, we propose a model based on a higher than observed carrier frequency of the most common mutation and on very high fetal loss of homozygotes for that mutation...
  15. doi request reprint Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases
    M J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 152:2029-33. 2010
    ..The patients reported herein expand the clinical spectrum of FFS. The utility of sonographic evaluation in diagnosis of the facial appearance and of the bony abnormalities in this condition is emphasized...
  16. ncbi request reprint 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...
  17. ncbi request reprint 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
    ....
  18. ncbi request reprint 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...
  19. ncbi request reprint 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...
  20. ncbi request reprint 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...
  21. ncbi request reprint 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...
  22. ncbi request reprint 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
    ....
  23. ncbi request reprint 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...
  24. ncbi request reprint Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
    Susan Zeesman
    Department of Pediatrics, McMaster University, Hamilton, Canada
    Am J Med Genet A 140:509-14. 2006
    ..Cytogenetic and molecular analysis of this region should be considered for other individuals displaying similar characteristics...
  25. ncbi request reprint Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis
    John S Waye
    Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton ON, Canada L8N 3Z5, Canada
    Prenat Diagn 27:638-40. 2007
    ....
  26. ncbi request reprint Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)
    John S Waye
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Hum Mutat 26:59. 2005
    ..Surveys of SLOS patients have identified more than one hundred point mutations of the DHCR7 gene, most of which are missense mutations. Here, we report the identification of nine novel missense mutations of the DHCR7 gene...
  27. ncbi request reprint De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome
    John S Waye
    1Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada
    Am J Med Genet A 143:1799-801. 2007
  28. ncbi request reprint 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...
  29. doi request reprint Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability
    Susan Zeesman
    Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 158:1832-6. 2012
    ..1 region have been reported previously without delineation of a consistent phenotype. We propose that the described microdeletions in the distal portion of 17p13.1 represent a novel microdeletion syndrome...
  30. pmc Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
    Rebecca L Hood
    Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ontario, Canada
    Am J Hum Genet 90:308-13. 2012
    ..Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS...
  31. doi request reprint Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay
    Stacy Zahanova
    Department of Pediatrics, DeGroote School of Medicine, McMaster University, Hamilton, Canada
    Clin Dysmorphol 21:48-52. 2012
    ..3q23 (chr3:139 354 104–144 013 999)(hg18), which includes FOXL2. In addition to the classic features of BPES, he presents with an external genital anomaly,spastic diplegia, and speech delay...
  32. doi request reprint 4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generations
    Jia Chi Wang
    Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada
    Am J Med Genet A 149:2274-9. 2009
    ..Among the three sons, two had Hirschsprung disease, and one had constipation at birth. The phenotype of triplication of 4q32.1-q32.2 appeared to be distinct from duplications of 4q31-qter...
  33. doi request reprint Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 146:354-60. 2008
    ..We propose that this is a new congenital malformation syndrome associated with a paternal deletion of 6q24.3...
  34. ncbi request reprint 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...
  35. ncbi request reprint 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...
  36. ncbi request reprint 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...
  37. ncbi request reprint 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)...
  38. ncbi request reprint 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...