David Chitayat

Summary

Affiliation: Mount Sinai Hospital
Country: Canada

Publications

  1. ncbi request reprint Success rate for culture of fetal postmortem tissue is dependent on the method of pregnancy termination
    Elizabeth J T Winsor
    Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada
    Fetal Diagn Ther 20:306-8. 2005
  2. doi request reprint Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases
    David Chitayat
    The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital and the University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:3038-53. 2008
  3. ncbi request reprint Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes
    David Chitayat
    Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Ontario, Canada
    Am J Obstet Gynecol 187:758-63. 2002
  4. ncbi request reprint X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings
    Shalini Umranikar
    Department of Medical Imaging, Women s College Campus, Sunnybrook and Women s Health Sciences Center, University of Toronto, Toronto, Ontario, Canada
    Prenat Diagn 26:1235-40. 2006
  5. doi request reprint Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus
    John D Cleary
    Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Nat Struct Mol Biol 17:1079-87. 2010
  6. doi request reprint Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome
    Shin ichi Horike
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 149:2415-23. 2009
  7. ncbi request reprint Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study
    Fionnuala M McAuliffe
    Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Canada
    Am J Obstet Gynecol 193:1260-5. 2005
  8. ncbi request reprint WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate
    Jose C Ferreira
    Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada
    Epigenetics 6:440-9. 2011
  9. ncbi request reprint Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
    Adam C Smith
    Institute of Medical Science, University of Toronto, Toronto, Canada
    Am J Med Genet A 143:3010-5. 2007
  10. doi request reprint Fetal cardiac tumors: a single-center experience of 40 cases
    Yoav Yinon
    Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada
    Prenat Diagn 30:941-9. 2010

Detail Information

Publications83

  1. ncbi request reprint Success rate for culture of fetal postmortem tissue is dependent on the method of pregnancy termination
    Elizabeth J T Winsor
    Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada
    Fetal Diagn Ther 20:306-8. 2005
    ..To determine the effect of different methods of pregnancy termination on the culture success rate of postmortem fetal tissue...
  2. doi request reprint Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases
    David Chitayat
    The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital and the University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:3038-53. 2008
    ....
  3. ncbi request reprint Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes
    David Chitayat
    Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Ontario, Canada
    Am J Obstet Gynecol 187:758-63. 2002
    ..The study was designed to evaluate whether double positive maternal serum screening results for Down syndrome and open neural tube defects indicate an increased risk of adverse perinatal outcome...
  4. ncbi request reprint X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings
    Shalini Umranikar
    Department of Medical Imaging, Women s College Campus, Sunnybrook and Women s Health Sciences Center, University of Toronto, Toronto, Ontario, Canada
    Prenat Diagn 26:1235-40. 2006
    ..To report our experience of the prenatal diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) and highlight its variable phenotypic presentation...
  5. doi request reprint Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus
    John D Cleary
    Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Nat Struct Mol Biol 17:1079-87. 2010
    ..CTCF sites between progressing forks and repeats reduced replication depending on chromatin. Thus, varying replication progression may affect tissue- and age-specific repeat instability...
  6. doi request reprint Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome
    Shin ichi Horike
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 149:2415-23. 2009
    ..This patient series suggests that epimutations on chromosome 11p15 can be most efficiently detected in RSS patients by screening for DNA methylation defects at the H19 promoter or the distal region of ICR...
  7. ncbi request reprint Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study
    Fionnuala M McAuliffe
    Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Canada
    Am J Obstet Gynecol 193:1260-5. 2005
    ..The purpose of this study was to determine the effectiveness of a fetal anatomy survey in conjunction with first-trimester nuchal translucency (NT) screening ultrasound in an unselected pregnant population performed by sonographers...
  8. ncbi request reprint WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate
    Jose C Ferreira
    Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada
    Epigenetics 6:440-9. 2011
    ..Note: All of the array data in the manuscript can be accessed from the Gene Expression Omnibus (GEO) NCBI database under GEO accession number GSE22326...
  9. ncbi request reprint Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
    Adam C Smith
    Institute of Medical Science, University of Toronto, Toronto, Canada
    Am J Med Genet A 143:3010-5. 2007
    ..These two patients support the hypothesis that high levels of UPD define high expressivity in BWS...
  10. doi request reprint Fetal cardiac tumors: a single-center experience of 40 cases
    Yoav Yinon
    Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada
    Prenat Diagn 30:941-9. 2010
    ..To determine the natural history and outcome of fetal cardiac tumors...
  11. doi request reprint Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae
    Lin Guo
    Institute of Medical Sciences, University of Toronto, Toronto, Canada
    Dev Biol 320:79-91. 2008
    ..Of particular interest, we demonstrated also a decrease in IGF2 mRNA levels in all SGA placentae and showed that the decrease is, in most cases, independent of H19 regulation...
  12. ncbi request reprint Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome
    Raz Somech
    Department of Pediatrics, The Canadian Centre for Primary Immunodeficiency, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:8-14. 2008
    ..The distinct findings in these two sisters have not been reported before and thus suggest a hitherto unknown autosomal recessive condition that includes immune dysfunction, gonadal dysgenesis, and pulmonary fibrosis...
  13. doi request reprint Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?
    Brian Chung
    The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Ontario, Canada
    Am J Med Genet A 158:2373-81. 2012
    ..We propose that this is a previously unrecognized overgrowth syndrome associated with increased cellular proliferation and defective collagen I deposition due to an imbalance between MMP and TIMP in fibroblasts...
  14. ncbi request reprint Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings
    David Chitayat
    The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 143:3280-5. 2007
    ..We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings...
  15. ncbi request reprint Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders
    Joel Fluss
    Division of Pediatric Neurology, The Hospital for Sick Children, University of Toronto, Ontario, Canada
    J Child Neurol 21:320-4. 2006
    ..We report a case of Joubert syndrome diagnosed prenatally using fetal MRI. We also discuss the etiology of Joubert syndrome in view of the recent genetic advances and murine models of cerebellar dysgenesis...
  16. pmc Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
    Christopher P Barnett
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
    Eur J Hum Genet 19:624-33. 2011
    ..Further studies are required to determine if dexamethasone treatment of fetuses prenatally diagnosed with LDS would prevent or alleviate the connective tissue and vascular defects seen in this syndrome...
  17. ncbi request reprint The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal
    David Chitayat
    The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 143:1268-81. 2007
    ..We suggest changing the condition's name to PDAC to reflect the most important components of this condition...
  18. doi request reprint Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
    Ann M Joseph-George
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
    J Med Genet 48:317-22. 2011
    ..The molecular characterisation of three of these four variants has been reported. In this study, the genomic structure of the fourth variant, an additional G-positive band at 9q13-q21, is characterised...
  19. doi request reprint A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features
    Arie Koifman
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 152:1268-72. 2010
    ..In addition, the child inherited a 781-kb deletion on 4q32.2 from the mother that contains the SPOCK3 gene. We suggest that this heterozygous deletion is likely to be non-contributory to the phenotype...
  20. doi request reprint Prenatal diagnosis of topsy-turvy heart
    Edgar Jaeggi
    Fetal Cardiac Program, Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Canada
    Cardiol Young 18:337-42. 2008
    ..The finding of the same rare abnormality in a son and a daughter born to consanguineous parents supports a single gene disorder with a recessive mode of inheritance...
  21. doi request reprint Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiation
    Naila Gaber
    Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Pathol 183:720-34. 2013
    ..This finding suggests that hypoxia may reprogram the immature heart and affect differentiation and development. ..
  22. doi request reprint Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene
    Sharon Moalem
    Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 161:1792-6. 2013
    ..Arg603* (c.1078+1G>A), in the INVS/NPHP2 gene. This mutation is thought to abolish the splice donor site for exon 8, which likely disrupts the normal splicing of the INVS/NPHP2 gene...
  23. doi request reprint Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome
    Elaine Suk Ying Goh
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 158:1579-88. 2012
    ..285 Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication...
  24. doi request reprint Male sex bias in placental dysfunction
    Ally Murji
    Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 158:779-83. 2012
    ..In a subgroup analysis of families without cHTN, a significant male bias was found to extend to sibs of index cases. This suggests a potential genetic mechanism predisposing the male fetus to abnormal placental development...
  25. doi request reprint Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings
    Karen Chong
    The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Prenat Diagn 29:489-94. 2009
    ..We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis...
  26. doi request reprint Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome
    Katherine Fong
    Department of Medical Imaging, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada
    Prenat Diagn 31:395-400. 2011
    ..To report the prenatal findings and postnatal outcome of fetal ventriculomegaly associated with isolated large choroid plexus cysts (CPCs)...
  27. ncbi request reprint First trimester ultrasound diagnosis of lethal multiple pterygium syndrome
    Munire Gundogan
    Department of Medical Imaging, Mount Sinai Hospital, Toronto, Ontario, Canada
    Fetal Diagn Ther 21:466-70. 2006
    ..Diagnosis of lethal multiple pterygium syndrome in the first trimester of pregnancy...
  28. ncbi request reprint Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex
    Rima S Bader
    Department of Pediatrics, Division of Cardiology, Fetal Cardiac Program, The Hospital for Sick Children, Toronto, Ontario, Canada
    J Pediatr 143:620-4. 2003
    ....
  29. ncbi request reprint Association between second-trimester isolated high maternal serum maternal serum human chorionic gonadotropin levels and obstetric complications in singleton and twin pregnancies
    Nathalie Lepage
    Division of Biochemistry, Children s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada, K1H 8L1
    Am J Obstet Gynecol 188:1354-9. 2003
    ..The purpose of this study was to examine the clinical significance of high maternal serum human chorionic gonadotropin levels in the second trimester in singleton and twin pregnancies within the Ontario maternal serum screening program...
  30. ncbi request reprint Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression
    Elena Kolomietz
    Department of Laboratory Medicine and Pathology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada
    Am J Med Genet B Neuropsychiatr Genet 141:214-9. 2006
    ..1 to 11q22.1. Brain-expressed genes that map within this 16 Mb region, are considered worthy of further investigation as gene(s) contributing to the etiology of major depression...
  31. ncbi request reprint Second-trimester prediction of severe placental complications in women with combined elevations in alpha-fetoprotein and human chorionic gonadotrophin
    Fawaz Alkazaleh
    Department of Obstetrics and Gynaecology, Maternal Fetal Medicine Division Placenta Clinic, University of Toronto, Toronto, Ontario, Canada
    Am J Obstet Gynecol 194:821-7. 2006
    ....
  32. doi request reprint Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome
    Andrea Guerin
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada
    Am J Med Genet A 158:2551-6. 2012
    ....
  33. doi request reprint Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene
    Roberto Mendoza-Londono
    Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 158:1344-54. 2012
    ..Furthermore, we ruled out the contribution of intrinsic platelet factors to the bleeding diathesis observed in some affected individuals...
  34. pmc Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues
    Arturo López Castel
    Genetics and Genome Biology, Department of Pediatrics, The Hospital for Sick Children, and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
    Hum Mol Genet 20:1-15. 2011
    ..Thus, in humans, the CpG-free expanded CTG repeat appears to maintain a highly polarized pattern of CpG methylation at the DM1 locus, which varies markedly with age and tissues...
  35. ncbi request reprint Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings
    David Sermer
    The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 143:3286-9. 2007
    ..This case further delineates the AFD syndrome type Rodriguez...
  36. ncbi request reprint Early fetal echocardiography--a reliable prenatal diagnosis tool
    Fionnuala M McAuliffe
    Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Canada
    Am J Obstet Gynecol 193:1253-9. 2005
    ..This study was undertaken to evaluate the feasibility and to report the detection rate of cardiac anomalies with fetal echocardiography before 16 weeks' gestation...
  37. ncbi request reprint Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: a systematic review
    Matthew D Laskin
    Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Canada
    J Matern Fetal Neonatal Med 18:289-98. 2005
    ..To establish the perinatal and neurodevelopmental outcomes of fetuses diagnosed with isolated ventriculomegaly (IVM)...
  38. doi request reprint BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
    Catherine Deveault
    Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada
    Hum Mutat 32:610-9. 2011
    ..Comprehensive phenotyping of these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes...
  39. doi request reprint Abnormalities of the foetal cerebral cortex
    Ants Toi
    Department of Medical Imaging, Mount Sinai Hospital and University Health Network, University of Toronto, Toronto, Ontario, Canada
    Prenat Diagn 29:355-71. 2009
    ..This article reviews development of the cerebral cortex, the classification, aetiologies and clinical manifestations of cortical disorders, normal and abnormal appearances at ultrasound and MRI, and approaches to investigation...
  40. doi request reprint Prospective experience with integrated prenatal screening and first trimester combined screening for trisomy 21 in a large Canadian urban center
    Nanette Okun
    Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Prenat Diagn 28:987-92. 2008
    ..To evaluate the performance of integrated prenatal screening (IPS) and first trimester combined screening (FTS) for trisomy 21 in a large Canadian urban center...
  41. ncbi request reprint Genetic transmission of cytochrome P450 2D6 (CYP2D6) ultrarapid metabolism: implications for breastfeeding women taking codeine
    Parvaz Madadi
    Division of Clinical Pharmacology and Toxicology, and The Motherisk Program, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada
    Curr Drug Saf 6:36-9. 2011
    ....
  42. doi request reprint PhenoTips: patient phenotyping software for clinical and research use
    Marta Girdea
    Department of Computer Science, University of Toronto, Ontario, Canada
    Hum Mutat 34:1057-65. 2013
    ..Our source code and a demo version of PhenoTips are available at http://phenotips.org. ..
  43. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
    ..This approach enabled the discovery of candidate genes for developmental diseases including autism...
  44. pmc Structural variation of chromosomes in autism spectrum disorder
    Christian R Marshall
    The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
    Am J Hum Genet 82:477-88. 2008
    ..Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup...
  45. pmc The cycle of genome-directed medicine
    Janet A Buchanan
    The Centre for Applied Genomics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
    Genome Med 1:16. 2009
    ..Medical infrastructure needs to adapt to the dramatic pace of technology development in the wake of the Human Genome Project, in order for genome data to be delivered as information and applied as knowledge to benefit health...
  46. ncbi request reprint Parents' perspectives on participating in genetic research in autism
    Magan Trottier
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
    J Autism Dev Disord 43:556-68. 2013
    ..The results of this study highlight complex factors involved in families' decisions to participate in autism genetic research and provide points to consider for this population of research participants...
  47. doi request reprint XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication
    Sharon Moalem
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 158:1759-64. 2012
    ..These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY...
  48. ncbi request reprint Looking past the lump: genetic aspects of inguinal hernia in children
    Christopher Barnett
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
    J Pediatr Surg 44:1423-31. 2009
    ..A comprehensive review of the literature aims to provide a diagnostic framework to aid in the identification of patients with inguinal hernia as part of underlying genetic disease...
  49. ncbi request reprint Fetal pericardial teratoma: presentation of two cases and review of literature
    Rima Bader
    Department of Pediatrics, Division of Cardiology and Cardiovascular Research, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Perinatol 23:53-8. 2006
    ..We review the published experience of intrapericardial teratomas, focusing on the diagnosis, fetal echocardiographic findings, and outcome with and without prenatal intervention...
  50. ncbi request reprint Fetal hepatic calcifications: prenatal diagnosis and outcome
    Michal J Simchen
    Prenatal Diagnosis and Medical Genetics Program, Mt Sinai Hospital, Toronto, Ontario, Canada
    Am J Obstet Gynecol 187:1617-22. 2002
    ..The purpose of this study was to provide information on the causes and postnatal outcomes of fetal liver calcifications that were detected by ultrasound imaging...
  51. doi request reprint Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies
    Diane J Allingham-Hawkins
    Genetics Program, North York General Hospital, 4001 Leslie Street, Toronto, Ontario, Canada
    Genet Med 13:140-7. 2011
    ..To prospectively validate a quantitative fluorescent polymerase chain reaction (PCR) assay as a method of rapid prenatal aneuploidy detection for chromosomes 13, 18, 21, X, and Y...
  52. ncbi request reprint Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome?
    Prakesh S Shah
    Mount Sinai Hospital, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 140:1312-5. 2006
    ..We propose that this is a previously unrecognized disorder. The potential role of ICSI/IVF in the pathogenesis of this condition is unknown. No imprinting defect at chromosome 11p15 was identified...
  53. ncbi request reprint Fetal sex assignment by sonographic evaluation of the pelvic organs in the second and third trimesters of pregnancy
    Phyllis Glanc
    Department of Medical Imaging, Sunnybrook Health Sciences Centre, Women s College Hospital, University of Toronto, Toronto, ON M5S 1B2, Canada
    J Ultrasound Med 26:563-9; quiz 570-1. 2007
    ..The purpose of this study was to determine the feasibility and reliability of fetal sex assignment by prenatal sonography of the pelvic organs in the second and third trimesters...
  54. ncbi request reprint Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development
    Sandeep Ghai
    Department of Medical Imaging, Mount Sinai Hospital and University of Toronto, 600 University Ave, Room 570, Toronto, Ontario, Canada M5G 1X5
    Radiographics 26:389-405. 2006
    ..The primary fissures and sulci that can be examined with prenatal US and MR imaging include the parieto-occipital fissure, calcarine fissure, cingulate sulcus, convexity sulci, and sylvian fissure and insula...
  55. ncbi request reprint Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome
    Millan S Patel
    Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 129:294-9. 2004
    ..These findings suggest a unifying pathogenic mechanism for the abnormalities seen in AOS. These and previously reported cases establish that a subset of AOS patients is at high risk for PH...
  56. ncbi request reprint Prenatal detection of microtia by MRI in a fetus with trisomy 22
    Andrea Milic
    Department of Diagnostic Imaging, Hospital for Sick Children, University of Toronto, Toronto, Canada
    Pediatr Radiol 36:706-10. 2006
    ..Fetal MRI is a useful tool for auricular assessment and might have utility in the prenatal detection of chromosomal abnormalities, especially among fetuses with structural anomalies...
  57. doi request reprint Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature
    Melissa T Carter
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 158:1977-81. 2012
    ..We suggest that temporal bone CT imaging be included in the medical workup of a child with BOF syndrome, in order to guide management...
  58. doi request reprint From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders
    Brian Chung
    The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Ontario, Canada
    Am J Med Genet A 155:1123-8. 2011
    ..Six females in the family were found to be asymptomatic carriers. Our report indicates that some of the cases with VACTERL-H syndrome may be caused by a mutation or deletion of the ZIC3 gene...
  59. doi request reprint Ataxia and pancytopenia caused by a mutation in TINF2
    Elena Tsangaris
    Cell Biology Program, Research Institute, University of Toronto, Toronto, ON, Canada
    Hum Genet 124:507-13. 2008
    ..845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita. We propose that some cases of ataxia-pancytopenia may be affected by DC...
  60. ncbi request reprint Clinical and genetic aspects of trigonocephaly: a study of 25 cases
    Cyrus Azimi
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 117:127-35. 2003
    ..An investigation to delineate the underlying cause of trigonocephaly is indicated because of its important implications on medical management for the patient and the reproductive plans for the family...
  61. doi request reprint Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population
    Gail Billingsley
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada
    J Med Genet 47:453-63. 2010
    ..The second group, the chaperonin-like proteins BBS6, BBS10, and BBS12, have been defined as a vertebrate-specific branch of the type II chaperonin superfamily. These may play a role in the regulation of BBSome assembly...
  62. ncbi request reprint An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus
    Charis Kepron
    Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
    Pediatr Dev Pathol 12:53-8. 2009
    ....
  63. ncbi request reprint Cavum veli interpositi: prenatal diagnosis and postnatal outcome
    Prakesh S Shah
    Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Prenat Diagn 25:539-42. 2005
    ..Her growth and development during the first 4 years of life were normal. CVI is a rare fetal ultrasound finding, which seems to be benign. However, further neurodevelopmental follow-up is needed to confirm this observation...
  64. doi request reprint Williams syndrome in a preterm infant with phenotype of Alagille syndrome
    Prakesh S Shah
    Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:2407-11. 2008
    ..This case illustrates the importance of microarray analysis in diagnosing genetic conditions, especially in preterm babies whose facial and other clinical manifestations have not fully developed...
  65. doi request reprint Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitalia
    Yoav Yinon
    Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, The Placenta Clinic, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 152:75-83. 2010
    ..Early placental development likely influences male external genitalia formation. Careful sonographic evaluation of the genitalia is advised when early-onset placentally mediated IUGR is found...
  66. doi request reprint Long-term neurodevelopment of children exposed in utero to ciclosporin after maternal renal transplant
    Irena Nulman
    The Motherisk Program, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Paediatr Drugs 12:113-22. 2010
    ..Immunosuppressant therapy is essential in the prevention of organ transplant rejection...
  67. ncbi request reprint Prenatal diagnosis of Apert syndrome: report of two cases
    David L Skidmore
    Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Prenat Diagn 23:1009-13. 2003
    ....
  68. ncbi request reprint Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
    Gustavo H B Maegawa
    The Hospital for Sick Children, Department of Pediatrics, Divisions of Clinical and Metabolic Genetics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Clin Dysmorphol 15:191-6. 2006
    ..To the best of our knowledge, this is a hitherto new syndrome with an unknown inheritance...
  69. doi request reprint The genetics you never knew: a genetics primer
    Keith Jarvi
    Division of Urology, Department of Surgery, Murray Koffler Urologic Wellness Centre, Mount Sinai Hospital, University of Toronto, Joseph and Wolf Lebovic Building, 60 Murray Street, 6th Floor, Toronto, Ontario, M5T 3L9
    Urol Clin North Am 35:243-56, ix. 2008
    ..In this article we review the structure and function of the genes, how genes are packaged, gene replication, gene mutations, and the different modes of inheritance...
  70. ncbi request reprint An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female
    Mary Shago
    Department of Pediatric Laboratory Medicine, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    Am J Med Genet 113:279-85. 2002
    ..Deletion of one copy of the SHOX gene was detected in this patient. Haploinsufficiency of this gene is known to be correlated with short stature and mesomelic limb shortening...
  71. doi request reprint Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization
    Jessie M Cameron
    Genetics and Genome Biology, The Research Institute, The Hospital for Sick Children, Toronto, ON, Canada
    Mitochondrion 11:191-9. 2011
    ..This could explain the differential effects on the expression and assembly of complex V in different tissues...
  72. doi request reprint High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita
    Aleksander Hinek
    Division of Cardiovascular Research, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:2520-7. 2008
    ..Our data suggest that a high level of free copper may constitute a major triggering factor contributing to the development of the CMTC phenotype...
  73. ncbi request reprint Randomized controlled trial of misoprostol for second-trimester pregnancy termination associated with fetal malformation
    Hani A Akoury
    Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada
    Am J Obstet Gynecol 190:755-62. 2004
    ....
  74. ncbi request reprint Malignant hematological disorders in children with Wolf-Hirschhorn syndrome
    Anjali Sharathkumar
    Division of Hematology Oncology The Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 119:194-9. 2003
    ..This report also underscores the importance of evaluating children with WHS for hematopoietic dysfunction...
  75. ncbi request reprint Use of atypical antipsychotics during pregnancy and the risk of neural tube defects in infants
    Gideon Koren
    Division of Clinical Pharmacology Toxicology, The Hospital for Sick Children, Toronto, Ont, Canada
    Am J Psychiatry 159:136-7. 2002
    ..Atypical antipsychotics cause various degrees of weight gain. The authors assessed folate status and obesity among patients with schizophrenia receiving atypical antipsychotics...
  76. ncbi request reprint Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome
    Kazuhiko Nakabayashi
    Department of Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
    Genomics 79:186-96. 2002
    ..We also identified other transcription units from this immediate region, but all seem to be biallelically expressed when using a somatic cell hybrid assay...
  77. ncbi request reprint Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay
    Annette Feigenbaum
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, The University of Toronto, Toronto, Canada
    Am J Med Genet A 124:142-7. 2004
    ..Twenty-five carriers were found from 1,423 samples yielding a carrier rate of 1:57, differing from the widely quoted frequency of 1:40 and supporting our observed frequency of disease...
  78. ncbi request reprint Tetrasomy 9p mosaicism associated with a normal phenotype
    Fionnuala McAuliffe
    Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada
    Fetal Diagn Ther 20:219-22. 2005
    ..We are aware of only one other patient in the literature with a normal phenotype associated with mosaicism for this chromosomal abnormality...
  79. pmc Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells
    Zhi Yang
    Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Hum Genet 73:1092-105. 2003
    ..This is the first report that repeat-length alterations specific to a disease allele can be modulated by exogenously added compounds...
  80. pmc Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome
    Zsolt Urban
    Pacific Biomedical Research Center, University of Hawaii, Honolulu, USA
    Am J Hum Genet 71:30-44. 2002
    ..This results in the formation of multilayer thickening of the tunica media of large arteries and, consequently, in the development of hyperplastic intimal lesions leading to segmental arterial occlusion...
  81. pmc Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
    Cynthia F Bartels
    Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Am J Hum Genet 75:27-34. 2004
    ..We conclude that, although NPR-B is expressed in a number of tissues, its major role is in the regulation of skeletal growth...
  82. ncbi request reprint Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Nat Genet 38:910-6. 2006
    ..Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation...
  83. ncbi request reprint Detection of fetal structural abnormalities with US during early pregnancy
    Katherine W Fong
    Department of Medical Imaging, Mount Sinai Hospital and University of Toronto, 600 University Ave, Rm 570, Toronto, ON, Canada M5G 1X5
    Radiographics 24:157-74. 2004
    ..A thorough knowledge of the US features of normal fetal development is necessary to avoid potential diagnostic pitfalls...