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Species | D J AmorSummaryAffiliation: Royal Children's Hospital Country: Australia Publications
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Publications
Pregnancies conceived using assisted reproductive technologies (ART) have low levels of pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive results in first trimester screening for Down syndromeD J Amor
Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
Hum Reprod 24:1330-8. 2009..The aim of this study was to undertake a detailed analysis of FTS results in singleton pregnancies conceived using assisted reproductive technologies (ART) and non-ART pregnancies...- PGD gender selection for non-Mendelian disorders with unequal sex incidenceDavid J Amor
Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville, VIC 3052, Australia
Hum Reprod 23:729-34. 2008..To illustrate these issues we use the example of autism, a non-Mendelian disorder that is considerably more common in males than in females... - Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28David J Amor
Murdoch Childrens Research Institute, Flemington Rd, Parkville, Victoria, Australia
Am J Med Genet A 143:2236-41. 2007..Linkage analysis using microsatellite markers along the X-chromosome suggests that the gene for Keipert syndrome is located in the region Xq22.2-Xq28. We postulate the Keipert syndrome is caused by a novel gene at Xq22.2-Xq28... - Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pDavid Coman
Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
Am J Med Genet A 146:1972-6. 2008..Testing of the genes DLL3, MESP2, and LFNG did not identify a mutation, suggesting that the siblings may have a new molecular subtype of SCD... - Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicismDavid J Amor
Murdoch Children s Research Institute, Royal Children s Hospital, Parkville 3052, Victoria, Australia
Prenat Diagn 26:443-8. 2006..To determine the long-term health and development of a cohort of children in whom confined placental mosaicism (CPM) was diagnosed at prenatal diagnosis... - Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3David J Amor
Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville 3052, Victoria, Australia
Am J Med Genet A 133:151-7. 2005..The ring chromosome appears to be prone to low-level misdivision and loss in vitro which, in vivo, must be countered by selection for the balanced karyotype because the level of mosaicism has remained stable over 13 years... - Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12pAlison Yeung
Victorian Clinical Genetics Services, Royal Children s Hospital, Melbourne, Australia
Am J Med Genet A 149:505-9. 2009..Her milder developmental phenotype may be attributable to differences in the mosaic distribution or the genomic content of the ring chromosome compared to mosaic isochromosome 12p... - Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndromeMarleen R Susman
Public Health Genetics, Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
Genet Med 12:298-303. 2010.... - Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndromeAlice M Jaques
Public Health Genetics, Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Rd, Parkville, Victoria 3052, Australia
Prenat Diagn 30:522-30. 2010.... - Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotypingD L Bruno
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia
J Med Genet 48:831-9. 2011..However, there remains little specific information on the clinical utility of this genotyping data... - Developmental perspectives on copy number abnormalities of the 22q11.2 regionT Y Tan
Genetic Health Services Victoria, Royal Children s Hospital, Flemington Rd, Parkville, VIC 3052, Australia
Clin Genet 78:201-18. 2010..2 genes and their interactions provide insight into the mechanisms underlying the phenotypic variability of the 22q11.2 syndromes, and suggest a possible common developmental pathway perturbed by copy number abnormalities of this locus... - New case of Cole-Carpenter syndromeD J Amor
Victorian Clinical Genetics Service, Royal Children s Hospital, Australia
Am J Med Genet 92:273-7. 2000..Collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity... - Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?David J Coman
Genetic Health Services Victoria, The Royal Children s Hospital, Melbourne, Victoria, Australia
Am J Med Genet A 143:2085-8. 2007..The sibling recurrence suggests autosomal recessive or X-linked patterns of inheritance... - Pseudotrisomy 13 syndrome in siblingsD J Amor
Victorian Clinical Genetics Service, Royal Children s Hospital, Parkville, Australia
Clin Dysmorphol 9:115-8. 2000..The parents were first cousins and a diagnosis of pseudotrisomy 13 syndrome is suggested. This report provides further support that the inheritance of pseudotrisomy 13 syndrome is autosomal recessive... - Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesDamien L Bruno
Cytogenetics Department, VCGS Pathology, MCRI, Royal Children s Hospital, Parkville, Victoria 3052, Australia
J Med Genet 47:299-311. 2010..More recently, both microdeletions and microduplications mapping to the Miller-Dieker syndrome telomeric critical region have been identified and associated with distinct but overlapping phenotypes... - Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ARTC L Wilson
Public Health Genetics, Murdoch Childrens Research Institute, Parkville 3052, Australia
Hum Reprod 26:1209-19. 2011..We reviewed the published literature to describe the available evidence about health outcomes in ART-conceived young people who were of an adolescent age or older... - Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndromeD J Amor
Victorian Clinical Genetics Service, Royal Children s Hospital, Australia
Am J Med Genet 93:328-34. 2000..CNS abnormalities and lymphatic abnormalities are rare manifestations of AOS, and we suggest that these sibs have a rare variant of AOS with probable recessive inheritance... - Increased genetic counseling support improves communication of genetic information in familiesLaura E Forrest
Murdoch Childrens Research Institute, The Royal Children s Hospital, Melbourne, Australia
Genet Med 10:167-72. 2008..To determine whether the provision of additional genetic counseling support could improve the uptake of genetic services by "at-risk" relatives of probands... - Familial digital arthropathy-brachydactylyDavid J Amor
Genetic Health Services Victoria, Royal Children s Hospital, Victoria, Australia
Am J Med Genet 108:235-40. 2002.... - Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, AustraliaTiong Yang Tan
Genetic Health Services Victoria, 10th floor Royal Children s Hosiptal, Flemington Road, Parkville, VIC 3052, Australia tiong tan org au
Cleft Palate Craniofac J 46:583-7. 2009..To study the birth defects and syndromes associated with cleft lip and/or cleft palate in children born from 2000 through 2002 in Victoria, Australia, comparing data from the birth defects registry and detailed clinical assessment... - Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairmentMatthew Hunter
Royal Children s Hospital, Melbourne, Australia
Am J Med Genet A 149:1763-7. 2009.... - Human centromere repositioning "in progress"David J Amor
Murdoch Children's Research Institute and Department of Paediatrics, Genetic Health Services Victoria, Royal Children's Hospital, Flemington Road, Victoria 3052, Australia
Proc Natl Acad Sci U S A 101:6542-7. 2004..quot; We discuss the wider implication of such a mechanism for meiotic drive and the evolution of primate and other species... - Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndromeTiong Yang Tan
Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia tiong tan org au
Am J Med Genet A 143:114-8. 2007..This unique combination of manifestations appears to represent a new syndrome with probable autosomal recessive or X-linked recessive inheritance... - 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairmentAlison Yeung
Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
Eur J Med Genet 52:440-2. 2009..The 14q12 microduplication comprised 4.45 Mb of DNA and included FOXG1. This is the first report of duplication involving FOXG1 and suggests a dosage sensitive role for FOXG1 in brain development... - Neocentromeres: role in human disease, evolution, and centromere studyDavid J Amor
Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
Am J Hum Genet 71:695-714. 2002..Since human neocentromere formation is generally detrimental to the individual, its biological value must lie beyond the individual level, such as in karyotype evolution and speciation... - A review of known imprinting syndromes and their association with assisted reproduction technologiesDavid J Amor
Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia
Hum Reprod 23:2826-34. 2008..The health effects of ART-associated imprinting changes may also extend beyond the nine recognized imprinting syndromes... - Prenatal cortical hyperostosis (Caffey disease)Ravi Savarirayan
Pediatr Radiol 32:694. 2002 - Recurrence risk in Autism Spectrum Disorder: a study of parental knowledgeCharlotte Whitelaw
Calvary Health Care Tasmania, Hobart, Tasmania, Australia
J Paediatr Child Health 43:752-4. 2007..To describe recurrence risk information currently being obtained by families affected by Autism Spectrum Disorder (ASD)...