Research Topics
| J M FriedmanSummaryAffiliation: University of British Columbia Country: Canada Publications
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Detail Information
Publications
Neurofibromatosis 1: clinical manifestations and diagnostic criteriaJ M Friedman
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
J Child Neurol 17:548-54; discussion 571-2, 646-51. 2002..The pathogenic implications of these clinical manifestations are also considered...
ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effectsJan M Friedman
Department of Medical Genetics, University of British Columbia, Child and Family Research Institute, Vancouver, British Columbia, Canada
Birth Defects Res A Clin Mol Teratol 94:670-6. 2012..Once a signal of possible teratogenicity in humans has been recognized, validating or refuting it would become an urgent matter...
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardationTracy Tucker
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
BMC Med Genomics 4:25. 2011..A number of whole genome array genomic hybridization platforms are available, but little is known about their comparative performance in a clinical context...- How do we know if an exposure is actually teratogenic in humans?J M Friedman
Medical Genetics Research Unit, University of British Columbia, Children s and Women s Hospital, 4500 Oak Street, Vancouver, British Columbia, Canada
Am J Med Genet C Semin Med Genet 157:170-4. 2011..Each approach can be helpful, but each has limitations as well. Drawing a causal inference requires analysis of all available data, their consistency, and their biological plausibility... - The principles of teratology: are they still true?Jan M Friedman
Department of Medical Genetics, University of British Columbia, and Child and Family Research Institute, Children s and Women s Hospital, 4500 Oak Street, Vancouver, BC, Canada
Birth Defects Res A Clin Mol Teratol 88:766-8. 2010..Recent advances in our knowledge of the molecular and cellular bases of embryogenesis serve only to provide a deeper understanding of the fundamental developmental mechanisms that underlie Wilson's Principles of Teratology... - Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridizationJm Friedman
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
BMC Genomics 10:526. 2009..However, there is no agreement regarding the kind of array, the distribution of probes across the genome, or the resolution that is most appropriate for clinical use... - High-resolution array genomic hybridization in prenatal diagnosisJ M Friedman
Department of Medical Genetics, University of British Columbia, and Medical Genetics Research Unit, Child and Family Research Institute, Children s and Women s Hospital, Vancouver, British Columbia, Canada
Prenat Diagn 29:20-8. 2009..At present, AGH should be offered for prenatal diagnosis only if the pregnancy is at especially high risk of having a pathogenic CNV or if AGH is being done as part of a clinical trial... - Big risks in small groups: The difference between epidemiology and counsellingJan M Friedman
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Birth Defects Res A Clin Mol Teratol 85:720-4. 2009..It is important to admit these limitations and to learn more about exposures that cause birth defects and how to prevent them... - Oligonucleotide microarray analysis of genomic imbalance in children with mental retardationJ M Friedman
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
Am J Hum Genet 79:500-13. 2006..This technology can detect at least twice as many potentially pathogenic de novo copy-number variants as conventional cytogenetic analysis can in people with mental retardation... - Analysis of neurofibromatosis 1 (NF1) lesions by body segmentChana Palmer
Department of Medical Genetics, The University of British Columbia, Vancouver, Canada
Am J Med Genet A 125:157-61. 2004..57). We conclude that the development of café-au-lait spots, cutaneous neurofibromas, and plexiform neurofibromas are spatially independent in NF1 patients but that the development of all three lesions is influenced by familial factors... - Epidemiology of neurofibromatosis type 1J M Friedman
Department of Medical Genetics at the University of British Columbia and Children s and Women s Health Centre of British Columbia, Vancouver, Canada
Am J Med Genet 89:1-6. 1999..About half of all cases result from new mutations. The estimated rate of new NF1 mutations is unusually high, but the basis for this high mutation rate is not known. Am. J. Med. Genet. (Semin. Med. Genet.) 89:1-6, 1999... - Associations of osseous abnormalities in Neurofibromatosis 1S Alwan
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Am J Med Genet A 143:1326-33. 2007.... - Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray dataAgnes Baross
Genome Sciences Centre, BC Cancer Agency, British Columbia Cancer Agency, Suite 100, 570 West 7th Avenue, Vancouver, BC, V5Z 4S6, Canada
BMC Bioinformatics 8:368. 2007..The popularity of this technology and its associated open source data format have resulted in the development of an increasing number of software packages for the analysis of copy number changes using these SNP arrays... - Exploring the "two-hit hypothesis" in NF2: tests of two-hit and three-hit models of vestibular schwannoma developmentRyan Woods
Department of Statistics, University of British Columbia, Vancouver, Canada
Genet Epidemiol 24:265-72. 2003..Our findings suggest that more than two mutations may be necessary for VS development in NF2 patients... - Associations of clinical features in neurofibromatosis 1 (NF1)J Szudek
Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
Genet Epidemiol 19:429-39. 2000..Genetic factors appear to determine the development of particular phenotypic features... - Growth in North American white children with neurofibromatosis 1 (NF1)J Szudek
Department of Medical Genetics, The University of British Columbia, 222 6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada
J Med Genet 37:933-8. 2000..To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients... - Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromasT Tucker
Department of Medical Genetics, Medical Genetics Research Unit, Children s and Women s Hospital, 4500 Oak Street, Vancouver, BC, Canada
J Med Genet 46:81-5. 2009..In order to characterise the growth of plexiform neurofibromas better, we performed serial magnetic resonance imaging (MRI) in NF1 patients with such tumours... - Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)Y Zhao
Department of Statistics, University of British Columbia, Vancouver, British Columbia, Canada
Genet Epidemiol 23:245-59. 2002..18-0.89), and for number of meningiomas within families with splice-site mutations (0.39; 95% CI, 0.13-0.66). Our findings are consistent with effects of both allelic and nonallelic familial factors on the clinical variability of NF2... - The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utilityF Zahir
Department of Medical Genetics, University of British Columbia Children s and Women s Hospital, 4500 Oak Street, Vancouver, BC, Canada
Clin Genet 72:271-87. 2007..Whole-genome AGH studies are a maturing technology, but their high diagnostic utility assures their increasing use in clinical genetics... - Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)T Tucker
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
J Med Genet 46:259-65. 2009..Patients with neurofibromatosis 1 (NF1) are shorter than expected and often have low bone mineral density (BMD), but the pathogenesis of these bony problems is poorly understood... - Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGHC Tyson
Department of Pathology, University of British Columbia, Vancouver, Canada
Am J Med Genet A 139:173-85. 2005..3). The clinical description of the three subjects with submicroscopic chromosomal changes at 7q36.3, 11q12.3-13.1, Xp22.3 is provided... - Pregnancy and postnatal outcome of mosaic isochromosome 20qW P Robinson
Department of Medical Genetics, University of British Columbia, British Colombia, Canada
Prenat Diagn 27:143-5. 2007..Nonetheless, based on a review of the literature, the level of isochromosome 20q cells found is associated with risk of abnormal outcome, suggesting a possible effect in some cases... - Angiotensin II receptor antagonist treatment during pregnancyS Alwan
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
Birth Defects Res A Clin Mol Teratol 73:123-30. 2005.... - Addendum: sartan treatment during pregnancySura Alwan
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Birth Defects Res A Clin Mol Teratol 73:904-5. 2005 - Clinical and genetic aspects of neurofibromatosis 1Kimberly Jett
Department of Medical Genetics, University of British Columbia, British Columbia, Canada
Genet Med 12:1-11. 2010.... - Massively parallel sequencing: the next big thing in genetic medicineTracy Tucker
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
Am J Hum Genet 85:142-54. 2009.... - A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomaliesFarah R Zahir
Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, British Columbia, Canada
Am J Med Genet A 149:1257-62. 2009..1). The patient has microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype... - Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three childrenFarah Zahir
Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, Canada
J Med Genet 44:556-61. 2007..The non-recurrent breakpoints of these patients, the presence of normal copy number variants in the region and the local genomic structure support the notion that this region has reduced stability... - Teratogenicity of recently introduced medications in human pregnancyW Y Lo
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Obstet Gynecol 100:465-73. 2002..042). CONCLUSION: We conclude that inadequate information is available for pregnant women and their physicians to determine whether the benefits exceed the teratogenic risks for most drug treatments introduced in the past 20 years... - Association between benign and malignant peripheral nerve sheath tumors in NF1T Tucker
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Neurology 65:205-11. 2005..The authors conducted a study to determine whether people with NF1 who have benign neurofibromas of various kinds are at greater risk of developing MPNSTs than patients with NF1 who lack these benign tumors... - Utility and limitations of genetic disease databases in clinical genetics research: a neurofibromatosis 1 database examplePatricia Birch
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Am J Med Genet C Semin Med Genet 125:42-9. 2004..We discuss examples of research that have been accomplished with genetic disease databases and make recommendations regarding the organization and operation of these resources... - Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defectsSura Alwan
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
N Engl J Med 356:2684-92. 2007..Information regarding the safety of selective serotonin-reuptake inhibitors (SSRIs) in human pregnancy is sparse. Concern has been raised about the risk of congenital heart defects associated with the use of SSRIs in pregnancy... - Valuing gene testing in children with possible neurofibromatosis 1E Tsang
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Clin Genet 82:591-3. 2012..These findings may be helpful in guiding health policy decision-making... - Increased dental caries in people with neurofibromatosis 1T Tucker
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Clin Genet 72:524-7. 2007..5 +/- 5.8, p = 0.019). Our findings suggest that dental caries occur more frequently than expected among people with NF1 and that individuals with this condition may require a modified dental care program... - Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)J Szudek
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
Genet Epidemiol 23:150-64. 2002..These familial patterns suggest that unlinked modifying genes and the normal NF1 allele may both be involved in the development of particular clinical features of NF1, but that the relative contributions vary for different features... - Cerebrovasculopathy in NF1 associated with ocular and scalp defectsMatt Smith
Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada
Am J Med Genet A 155:380-5. 2011..All of these defects may have occurred as a result of disruption of the blood supply caused by NF1 vasculopathy prenatally. This constellation of vascular anomalies has not been previously reported in a patient with NF1... - Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?S Alwan
University of British Columbia, Department of Medical Genetics, Room 300H Wesbrook Building, 6174 University Boulevard, Vancouver, BC V6T 1Z3
Clin Genet 67:378-90. 2005..We review the clinical and pathological features of NF1 skeletal lesions and propose that they result from an abnormal response of NF1 halpoinsufficient bone to abnormal mechanical forces rather than from a primary osseous dysplasia... - Use of Affymetrix mapping arrays in the diagnosis of gene copy number variationAllen D Delaney
Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada
Curr Protoc Hum Genet . 2008..This protocol describes the measurement and analysis processes, specifically the computational analyses that are involved in identifying pathogenic copy number variants... - A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7Anna M Lehman
Department of Medical Genetics, University of British Columbia, Canada
Eur J Med Genet 52:436-9. 2009..This rather specific recurrent pattern of congenital anomalies associated with overlapping duplications of the genomic region containing CHD7 suggests that the phenotype in these two patients may be the result of abnormal CHD7 dosage... - Predictors of the risk of mortality in neurofibromatosis 2Michael E Baser
Department of Medical Genetics, University of British Columbia, Vancouver, United Kingdom
Am J Hum Genet 71:715-23. 2002..To ensure optimal care, we recommend that people with NF2 be referred to specialty treatment centers... - Analysis of NF1 transcriptional regulatory elementsTsz Kin Bernard Lee
Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, British Columbia, Canada V6T 1Z3
Am J Med Genet A 137:130-5. 2005..This sequence, which is identical in human, mouse, and rat and differs by only 1-bp in Fugu, may contain the core promoter element for NF1 transcription... - Unidentified bright objects associated with features of neurofibromatosis 1Jacek Szudek
Department of Medical Genetics; University of British Columbia, Vancouver, BC, Canada
Pediatr Neurol 27:123-7. 2002..0, 95% CI = 1.3-3.1), and Lisch nodules (OR = 1.6, 95% CI = 1.1-2.3). These findings suggest a common causal mechanism between unidentified bright objects and these cardinal clinical features in children with neurofibromatosis 1... - Cardiac findings in an individual with neurofibromatosis 1 and sudden deathS J Hamilton
Department of Medical Genetics, University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
Am J Med Genet 100:95-9. 2001..Other cardiac findings included non-specific cardiomyopathic changes, myocardial fibrosis, and a "floppy" mitral valve... - Implications of research in male-mediated developmental toxicity to clinical counsellors, regulators, and occupational safety officersJ M Friedman
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V6T 1Z3
Adv Exp Med Biol 518:219-26. 2003..We don't know more than we do know about male-mediated developmental toxicity, and we are anxious to learn more... - Insights into the pathogenesis of neurofibromatosis 1 vasculopathyS J Hamilton
Department of Medical Genetics, University of British Columbia and Children s and Women s Health Centre of British Columbia, Vancouver, Canada
Clin Genet 58:341-4. 2000..Elucidation of the role of neurofibromin in the maintenance and repair of blood vessels may lead to novel approaches to the treatment of NF1 vasculopathy and vascular disease in general... - Maternal use of bupropion and risk for congenital heart defectsSura Alwan
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Am J Obstet Gynecol 203:52.e1-6. 2010..We sought to determine if maternal bupropion treatment in early pregnancy is associated with congenital heart defects in the infant... - Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task ForceJ M Friedman
Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada
Genet Med 4:105-11. 2002..CONCLUSION: Our understanding of the natural history and pathogenesis of cardiovascular disease in NF1 has improved substantially in the past few years, but many clinically important questions remain unanswered... - Vertebral scalloping in neurofibromatosis type 1: a quantitative approachEdmund S H Kwok
Department of Medical Genetics, University of British Columbia, Vancouver
Can J Surg 45:181-4. 2002..Further studies are needed to determine the possible role of vertebral scalloping in scoliosis severity and progression in children who have NF1... - Safety of selective serotonin reuptake inhibitors in pregnancySura Alwan
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
CNS Drugs 23:493-509. 2009..Thus, pregnant women who require treatment for depression and their physicians often face a difficult choice regarding the use of SSRIs... - Patterns of associations of clinical features in neurofibromatosis 1 (NF1)Jacek Szudek
Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, British Columbia, Canada
Hum Genet 112:289-97. 2003..Our studies show that some individuals with NF1 are more likely than others to develop certain clinical features of the disease. Some NF1 features appear to share pathogenic mechanisms that are not common to all features... - Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's IDNancy L Makela
Collaboration for Outcomes Research and Evaluation CORE, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada
Am J Med Genet A 149:2393-402. 2009..Surprisingly, between the two groups there were no differences in the parents' perceptions or experiences related to the presence or absence of an etiological diagnosis for their child's ID...