Research Topics
Species | Małgorzata J M NowaczykSummaryAffiliation: McMaster University Country: Canada Publications
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Publications
Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardationM 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...
Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiologyMałgorzata 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..2012 Wiley Periodicals, Inc...- Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introductionMałgorzata 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. © 2012 Wiley Periodicals, Inc... - Narrative medicine in clinical genetics practiceMałgorzata 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... - Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersPatrícia 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... - Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotypeMałgorzata 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... 
DHCR7 and Smith-Lemli-Opitz syndromeM J Nowaczyk
Department of Pathology and Molecular Medicine, McMaster University and Hamilton Regional Laboratory Medicine Program, Ont
Clin Invest Med 24:311-7. 2001- De novo 1q32q44 duplication and distal 1q trisomy syndromeMałgorzata J M Nowaczyk
Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
Am J Med Genet A 120:229-33. 2003.... - Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarificationMalgorzata 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... - Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: a new case and review of the literatureMałgorzata 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... - Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndromeMałgorzata 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... - Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillanceMałgorzata 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)... - 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... - Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three casesM 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... - Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndromeM 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... - Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotypeM J Nowaczyk
Department of Pathology and Molecular Medicine, McMaster University, Canada
Am J Med Genet 103:75-80. 2001.... - Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiencyM 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... - Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndromeM J Nowaczyk
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada
Am J Med Genet 95:396-8. 2000.... - DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndromeM 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... - The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphologyM 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... - Incidence of Smith-Lemli-Opitz syndrome in Ontario, CanadaM 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... - Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndromeM 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... - 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... - Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysisJohn S Waye
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton ON, Canada L8N 3Z5, Canada
Prenat Diagn 27:638-40. 2007.... - Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findingsM 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... - Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disabilitySusan 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... - Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca 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... - Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delayStacy 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... - 4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generationsJia 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... - Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearanceMałgorzata 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... - 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... - Antenatal and postnatal findings in encephalocraniocutaneous lipomatosisM 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... - Anesthetic considerations in Smith-Lemli-Opitz syndromeP 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... - Central nervous system malformations in ethylmalonic encephalopathyM 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)... - Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new caseM 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...