314 results on '"David J. Amor"'
Search Results
302. Erratum: Parental mosaicism of JAG1 mutations in families with Alagille syndrome
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Helen E. Hughes, Mike Schlicker, Agnes Bankier, Joannis Giannakudis, Małgorzata Krajewska-Walasek, Jean-Pierre Fryns, Annegret Kujat, Ingo Hansmann, David J. Amor, and Albrecht Röpke
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Genetics ,JAG1 ,business.industry ,media_common.quotation_subject ,Alagille syndrome ,medicine ,medicine.disease ,Legend ,business ,Genetics (clinical) ,media_common - Abstract
Figure 6 in the above paper was printed with an incorrect legend. The figure and legend are reproduced correctly below.
- Published
- 2001
303. Cole-Carpenter Syndrome - A case report
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David J. Amor and Agnes Bankier
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business.industry ,Skeletal survey ,Long bone ,Anatomy ,medicine.disease ,Sagittal plane ,Craniosynostosis ,Skull ,Sagittal suture ,medicine.anatomical_structure ,Osteogenesis imperfecta ,Medicine ,business ,Brachycephaly ,Genetics (clinical) - Abstract
Cole-Carpenter Syndrome is a rare variant of osteogenesis imperfecta characterised by features of both osteogenesis imperfecta and craniosynostosis. Since the initial two cases reported in 1987, there have been only a handful of reports of the condition, none of which have displayed features identical to the initial cases. We report a case of Cole-Carpenter syndrome with physical and radiological features remarkably similar to the original two cases. The female infant was noted at delivery to have short limbs, brachycephaly and unusual dysmorphic features. A skeletal survey showed generalised osteopenia with shortened and bowed long bones and moderate metaphyseal irregularity. The ribs were short and flared, with a single fracture noted. Skull X-ray showed multiple wormian bones. At follow-up the infant exhibits startling growth failure and progression of dysmorphic features with marked turricephaly. She has significant gross motor delay but normal fine motor and social development. CT scan shows craniosynostosis involving the sagittal, lambdoid, coronal and metopic sutures. Pathological fractures of the bones on either side of the fused sagittal suture are allowing the skull to grow vertically, accounting for the turricephalic appearance. By the age of 14 months the child has experienced two long bone fractures, both with minor trauma. We present the physical and radiological features of this case and review other reported cases of Cole-Carpenter syndrome.
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- 1999
304. Chromosome size and origin as determinants of the level of CENP-A incorporation into human centromeres.
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Danielle V. Irvine, David J. Amor, Jo Perry, Nicolas Sirvent, Florence Pedeutour, K. H. Andy Choo, and Richard Saffery
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CHROMOSOMES ,CENTROMERE ,CYTOTAXONOMY ,KARYOKINESIS - Abstract
Abstract We have expressed an EGFP-CENP-A fusion protein in human cells in order to quantitate the level of CENP-A incorporated into normal and variant human centromeres. The results revealed a 3.2-fold difference in the level of CENP-A incorporation into a-satellite repeat DNA-based centromeres, with the Y centromere showing the lowest level of all normal human chromosomes. Identification of individual chromosomes revealed a statistically significant, though not absolute, correlation between chromosome size and CENP-A incorporation. Analysis of three independent neocentromeres revealed a significantly reduced level of CENP-A compared to normal centromeres. Truncation of a neocentric marker chromosome to produce a minichromosome further reduced CENP-A levels, indicating a remodelling of centromeric chromatin. These results suggest a role for increased CENP-A incorporation in the faithful segregation of larger chromosomes and support a model of centromere evolution in which neocentromeres represent ancestral centromeres that, through adaptive evolution, acquire satellite repeats to facilitate the incorporation of higher numbers of CENP-A containing nucleosomes, thereby facilitating the assembly of larger kinetochore structures. [ABSTRACT FROM AUTHOR]
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- 2004
305. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
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Robert McFarland, Denise M. Kirby, Kerry J. Fowler, Akira Ohtake, Michael T. Ryan, David J. Amor, Janice M. Fletcher, Joanne W. Dixon, Felicity A. Collins, Douglass M. Turnbull, and Robert W. Taylor
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- 2004
306. Mefloquine resistant P. vivax malaria in PNG
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Michael J Richards and David J. Amor
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business.industry ,Mefloquine ,General Medicine ,Virology ,Papua New Guinea ,Vivax malaria ,Malaria, Vivax ,Animals ,Humans ,Medicine ,Plasmodium vivax ,business ,medicine.drug - Published
- 1992
307. Neocentromeres: Role in Human Disease, Evolution, and Centromere Study
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David J. Amor and K. H. Andy Choo
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Genetics ,Neocentromere ,Kinetochore ,Marker chromosome ,Centromere ,Karyotype ,Review Article ,Biology ,biology.organism_classification ,Genome ,Biological Evolution ,DNA sequencing ,Chromosomes, Artificial, Human ,Drosophilidae ,Karyotyping ,Neoplasms ,Animals ,Humans ,Genetics(clinical) ,Genetics (clinical) - Abstract
The centromere is essential for the proper segregation and inheritance of genetic information. Neocentromeres are ectopic centromeres that originate occasionally from noncentromeric regions of chromosomes. Despite the complete absence of normal centromeric alpha-satellite DNA, human neocentromeres are able to form a primary constriction and assemble a functional kinetochore. Since the discovery and characterization of the first case of a human neocentromere in our laboratory a decade ago, 60 examples of constitutional human neocentromeres distributed widely across the genome have been described. Typically, these are located on marker chromosomes that have been detected in children with developmental delay or congenital abnormalities. Neocentromeres have also been detected in at least two types of human cancer and have been experimentally induced in Drosophila. Current evidence from human and fly studies indicates that neocentromere activity is acquired epigenetically rather than by any alteration to the DNA sequence. 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.
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308. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
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Jacek Majewski, James T. Bennett, Mark O'Driscoll, Anna Lehman, Tiong Yang Tan, Kym M. Boycott, Diana Alcantara, Brian H.Y. Chung, Andrew E. Timms, Katherine M. Christensen, Laura M McDonell, John C Su, Dana M. Jensen, SuYuen Ng, Raoul C.M. Hennekam, David J. Amor, William B. Dobyns, Marjorie J. Lindhurst, Sarah Collins, Ute Moog, Stephen R. Braddock, Martine Tétrault, Les G Biesecker, Małgorzata J.M. Nowaczyk, Heather A. Brandling-Bennett, ANS - Complex Trait Genetics, APH - Amsterdam Public Health, and Paediatric Genetics
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0301 basic medicine ,Male ,Pathology ,medicine.medical_specialty ,Adolescent ,Eye Diseases ,Lipomatosis ,Mutation, Missense ,Biology ,medicine.disease_cause ,Eye ,Central Nervous System Neoplasms ,03 medical and health sciences ,Phosphatidylinositol 3-Kinases ,0302 clinical medicine ,Seizures ,Cell Line, Tumor ,Report ,medicine ,Genetics ,Missense mutation ,Humans ,Genetics(clinical) ,Exome ,Receptor, Fibroblast Growth Factor, Type 1 ,Genetics (clinical) ,Exome sequencing ,Mutation ,Neurocutaneous Syndromes ,Infant ,Sequence Analysis, DNA ,medicine.disease ,3. Good health ,stomatognathic diseases ,030104 developmental biology ,Child, Preschool ,Encephalocraniocutaneous Lipomatosis ,Female ,Carcinogenesis ,Proto-Oncogene Proteins c-akt ,030217 neurology & neurosurgery - Abstract
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectual disability can be present, although affected individuals without seizures and with normal intellect have also been reported. Given the patchy and asymmetric nature of the malformations, ECCL has been hypothesized to be due to a post-zygotic, mosaic mutation. Despite phenotypic overlap with several other disorders associated with mutations in the RAS-MAPK and PI3K-AKT pathways, the molecular etiology of ECCL remains unknown. Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each. These two residues are the most commonly mutated residues in FGFR1 in human cancers and are associated primarily with CNS tumors. Targeted resequencing of FGFR1 in multiple tissues from an independent cohort of individuals with ECCL identified one additional individual with a c.1638C>A (p.Asn546Lys) mutation in FGFR1. Functional studies of ECCL fibroblast cell lines show increased levels of phosphorylated FGFRs and phosphorylated FRS2, a direct substrate of FGFR1, as well as constitutive activation of RAS-MAPK signaling. In addition to identifying the molecular etiology of ECCL, our results support the emerging overlap between mosaic developmental disorders and tumorigenesis.
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309. Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
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John Christodoulou, Christopher Gyngell, Stephanie Best, Clara Gaff, Zornitza Stark, Ilias Goranitis, Marc Clausen, Yvonne Bombard, Lilian Downie, Sebastian Lunke, David J Amor, Alison Yeung, Simon Sadedin, Fiona Lynch, Sophie E Bouffler, Danya F Vears, Jade Caruana, Alison Archibald, Paul De Fazio, Ronda F Greaves, Sebastian Hollizeck, Anaita Kanga-Parabia, Nitzan Lang, Riccarda Peters, Erin Tutty, Stefanie Eggers, Crystle Lee, and Meaghan Wall
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Medicine - Abstract
Introduction Newborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but raises practical and ethical issues. Evidence from prospectively ascertained cohorts is required to guide policy and future implementation. This study aims to develop, implement and evaluate a genomic NBS (gNBS) pilot programme.Methods and analysis The BabyScreen+ study will pilot gNBS in three phases. In the preimplementation phase, study materials, including education resources, decision support and data collection tools, will be designed. Focus groups and key informant interviews will also be undertaken to inform delivery of the study and future gNBS programmes. During the implementation phase, we will prospectively recruit birth parents in Victoria, Australia, to screen 1000 newborns for over 600 severe, treatable, childhood-onset conditions. Clinically accredited whole genome sequencing will be performed following standard NBS using the same sample. High chance results will be returned by genetic healthcare professionals, with follow-on genetic and other confirmatory testing and referral to specialist services as required. The postimplementation phase will evaluate the feasibility of gNBS as the primary aim, and assess ethical, implementation, psychosocial and health economic factors to inform future service delivery.Ethics and dissemination This project received ethics approval from the Royal Children’s Hospital Melbourne Research Ethics Committee: HREC/91500/RCHM-2023, HREC/90929/RCHM-2022 and HREC/91392/RCHM-2022. Findings will be disseminated to policy-makers, and through peer-reviewed journals and conferences.
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- 2024
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310. A review of known imprinting syndromes and their association with assisted reproduction technologies.
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David J. Amor and Jane Halliday
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REPRODUCTIVE technology , *GENOMIC imprinting , *METHYLATION , *CHROMOSOME abnormalities , *ANGELMAN syndrome , *PSEUDOHYPOPARATHYROIDISM - Abstract
An association between assisted reproduction technologies (ART) and abnormal genomic imprinting in humans has been recognized for several years; however, the magnitude of this risk and the spectrum of imprinting syndromes to which the risk applies remains unknown. Nine human imprinting syndromes have been identified but current evidence links ART with only three: Beckwith–Wiedemann syndrome, Angelman syndrome and the newly described maternal hypomethylation syndrome. There is currently a lack of evidence linking ART with the remaining six imprinting syndromes: Prader–Willi syndrome, Russell–Silver syndrome, maternal and paternal uniparental disomy of chromosome 14, pseudohypoparathyroidism type 1b and transient neonatal diabetes. Evidence from clinical reports suggests that the association between imprinting syndromes and ART may be restricted to syndromes where the imprinting change takes the form of hypomethylation on the maternal allele. In contrast, studies of gametes and early embryos suggest that ART can be associated with hypermethylation as well as hypomethylation, with imprinting changes occurring on paternal as well as maternal alleles. The health effects of ART-associated imprinting changes may also extend beyond the nine recognized imprinting syndromes. [ABSTRACT FROM AUTHOR]
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- 2008
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311. PGD gender selection for non-Mendelian disorders with unequal sex incidence.
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David J. Amor and Carolyn Cameron
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PREIMPLANTATION genetic diagnosis , *PRENATAL diagnosis , *PRENATAL care , *OBSTETRICAL diagnosis - Abstract
Preimplantation genetic diagnosis (PGD) was originally developed for couples whose potential offspring were at risk of severe Mendelian disorders, but has since been extended to other indications. One possible use of PGD is to perform gender selection for couples whose offspring are at increased risk of disorders that do not follow Mendelian inheritance, but which are substantially more common in one sex than another (unequal sex incidence). Here, we examine the clinical and ethical issues to be considered prior to offering PGD gender selection to reduce the risk of a child being affected by a non-Mendelian condition with unequal sex incidence. Factors to be considered include: the risk that a child of either sex will be affected by the condition; the overall reduction in risk provided by gender selection and the potential harms of the procedure. Consideration should also be given to the interests of the family and the child to be born, the seriousness of the condition and the couple’s procreative autonomy. To illustrate these issues we use the example of autism, a non-Mendelian disorder that is considerably more common in males than in females. [ABSTRACT FROM AUTHOR]
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- 2008
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312. Family-centred care for children with traumatic brain injury and/or spinal cord injury: a qualitative study of service provider perspectives during the COVID-19 pandemic
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Vicki Anderson, Adam Scheinberg, Sarah Knight, David J Amor, Anna Pollock, Kate D’Cruz, Edith Botchway, Louise Harms, and Bruce Bonyhady
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Medicine - Published
- 2022
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313. DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome
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Claudine M Kraan, Emma K Baker, Marta Arpone, Minh Bui, Ling Ling, Dinusha Gamage, Lesley Bretherton, Carolyn Rogers, Michael J Field, Tiffany L Wotton, David Francis, Matt F Hunter, Jonathan Cohen, David J Amor, and David E Godler
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autism spectrum disorder (ASD) ,DNA methylation (DNAm) ,fragile X mental retardation 1 gene (FMR1 gene) ,fragile X syndrome (FXS) ,intellectual disability (ID) ,newborn screening ,Biology (General) ,QH301-705.5 ,Chemistry ,QD1-999 - Abstract
Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility of the Fragile X-Related Epigenetic Element 2 DNA methylation (FREE2m) assessed by Methylation Specific-Quantitative Melt Analysis and the EpiTYPER system, in retrospectively retrieved newborn blood spots (NBS) and newly created dried blood spots (DBS) from 65 children with FXS (~2–17 years). A further 168 NBS from infants from the general population were used to establish control reference ranges, in both sexes. FREE2m analysis showed sensitivity and specificity approaching 100%. In FXS males, NBS FREE2m strongly correlated with intellectual functioning and autism features, however associations were not as strong for FXS females. Fragile X mental retardation 1 gene (FMR1) mRNA levels in blood were correlated with FREE2m in both NBS and DBS, for both sexes. In females, DNAm was significantly increased at birth with a decrease in childhood. The findings support the use of FREE2m analysis in newborns for screening, diagnostic and prognostic testing in FXS.
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- 2020
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314. Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.
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Damien F Hudson, David J Amor, Amber Boys, Kathy Butler, Lorna Williams, Tao Zhang, and Paul Kalitsis
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Genetics ,QH426-470 - Abstract
Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Cells from homozygous individuals exhibit elevated rates of sister chromatid exchange, anaphase DNA bridges and micronuclei. Similar genome and chromosome instability phenotypes are observed in independently derived RMI2 knockout cells. In both patient and knockout cell lines reduced localisation of BLM to ultra fine DNA bridges and FANCD2 at foci linking bridges are observed. Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome.
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- 2016
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