Lista de obras - Emma L Duncan - Dominio Público Uruguay

'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass

artículo científico publicado en 2011

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

scientific article published on 14 November 2019

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

artículo científico publicado en 2018

A brilliant breakthrough in OI type V.

artículo científico

A novel INS mutation in a family with MODY: variable insulin secretion and putative mechanisms

artículo científico publicado en 2018

A novel putative collaborator of p19ARF

artículo científico publicado en 2003

A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways.

artículo científico publicado en 2013

A rare SMAD9 mutation identifies the BMP signalling pathway as a potential osteoanabolic target

Acute fluid shifts influence the assessment of serum vitamin D status in critically ill patients.

artículo científico publicado en 2010

Analysis of body composition in individuals with high bone mass reveals a marked increase in fat mass in women but not men

artículo científico publicado en 2013

Anxiety and depression symptoms after COVID-19 infection: results from the COVID Symptom Study app

artículo científico publicado en 2021

Assignment of SV40-immortalized cells to more than one complementation group for immortalization

artículo científico publicado en 1993

Association of FOXE1 polyalanine repeat region with papillary thyroid cancer

artículo científico publicado en 2012

Association ofERAP1, but notIL23R, with ankylosing spondylitis in a Han Chinese population

article

Attributes and predictors of Long-COVID: analysis of COVID cases and their symptoms collected by the Covid Symptoms Study App ⬇️

report published in 2020

Attributes and predictors of Long-COVID: analysis of COVID cases and their symptoms collected by the Covid Symptoms Study App

artículo científico publicado en 2020

Attributes and predictors of long COVID

Atypical Femoral Fracture: A Fascinating Story in Evolution

scientific article published on 29 November 2018

Author Correction: Attributes and predictors of long COVID

artículo científico publicado en 2021

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

artículo científico publicado en 2013

Bayesian approach to determining penetrance of pathogenic SDH variants

scientific article published on 10 September 2018

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

artículo científico publicado en 2017

COL1A1C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

artículo científico publicado en 2014

Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study

artículo científico publicado en 2020

Characteristics of early Paget's disease in SQSTM1 mutation carriers: Baseline analysis of the ZiPP study cohort

artículo científico publicado en 2020

Characterization of Normal Murine Carpal Bone Development Prompts Re-Evaluation of Pathologic Osteolysis as the Cause of Human Carpal-Tarsal Osteolysis Disorders.

artículo científico publicado en 2017

Clinical review 2: Genetic determinants of bone density and fracture risk--state of the art and future directions

artículo científico publicado en 2010

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family

artículo científico publicado en 2018

Cloning and characterization of a novel gene, striamin, that interacts with the tumor suppressor protein p53

scientific journal article

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

artículo científico publicado en 2009

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

scientific article published on 16 January 2020

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

artículo científico publicado en 2014

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

scientific article published on 14 November 2018

Conclusions and future directions: 'The known unknowns ….'

artículo científico publicado en 2017

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life

artículo científico publicado en 2018

Counting the cost: estimating the number of deaths among recently released prisoners in Australia.

artículo científico publicado en 2011

Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours.

artículo científico publicado en 2017

Cross-calibration of dual-energy X-ray densitometers for a large, multi-center genetic study of osteoporosis

artículo científico

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

artículo científico publicado en 2013

Differential display of mRNA.

artículo científico publicado en 1998

Disentangling post-vaccination symptoms from early COVID-19

artículo científico publicado en 2021

Downregulation of metallothionein-IIA expression occurs at immortalization

artículo científico publicado en 1999

Elevated circulating Sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations.

artículo científico publicado en 2014

Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease

artículo científico publicado en 2016

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

artículo científico publicado en 2016

Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes

artículo científico publicado en 2008

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

artículo científico publicado en 2014

Genetic studies in osteoporosis--the end of the beginning

artículo científico publicado en 2008

Genetic studies of osteoporosis.

artículo científico publicado en 1999

Genome-wide Association Studies

Genome-wide Association Study for Radiographic Vertebral Fractures: A Potential Role for the 16q24 BMD Locus versus Lessons Learned from Challenging Phenotype Definition

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus

artículo científico publicado en 2014

Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci

artículo científico publicado en 2010

Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes

artículo científico publicado en 2018

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

artículo científico publicado en 2011

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

artículo científico publicado en 2012

Glycaemic behaviour during breastfeeding in women with Type 1 diabetes.

artículo científico publicado en 2015

Glycaemic variability, assessed with continuous glucose monitors, is associated with diet, lifestyle and health in people without diabetes.

HLA and KIR Associations of Cervical Neoplasia

artículo científico publicado en 2018

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

artículo científico publicado en 2020

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

artículo científico publicado en 2017

Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies

scientific article published on 08 August 2015

Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies

artículo científico publicado en 2015

Identification of a novel human mitochondrial D-loop RNA species which exhibits upregulated expression following cellular immortalization.

artículo científico publicado en 2000

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

artículo científico publicado en 2017

Illness duration and symptom profile in a large cohort of symptomatic UK school-aged children tested for SARS-CoV-2

artículo científico publicado en 2021

Improving diagnosis of tumor-induced osteomalacia with Gallium-68 DOTATATE PET/CT.

artículo científico publicado en 2013

Influence of LRP5 Polymorphisms on Normal Variation in BMD

article

Is there a role or target value for nutritional vitamin D in chronic kidney disease?

artículo científico publicado en 2017

Isolation of a candidate human telomerase catalytic subunit gene, which reveals complex splicing patterns in different cell types.

artículo científico publicado en 1997

LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion.

artículo científico publicado en 2015

Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study.

artículo científico publicado en 2005

Loss of wild-type ATRX expression in somatic cell hybrids segregates with activation of Alternative Lengthening of Telomeres

artículo científico publicado en 2012

Malignant transformation of NIH3T3 cells by overexpression of mot-2 protein.

artículo científico publicado en 1998

Mapping genes for osteoporosis--old dogs and new tricks

artículo científico publicado en 2010

Marked increase in proton pump inhibitors use in Australia

artículo científico publicado en 2010

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

artículo científico publicado en 2007

Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm

artículo científico publicado en 2013

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB.

artículo científico publicado en 2014

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

artículo científico publicado en 2012

Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

artículo científico publicado en 2020

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density

artículo científico publicado en 2013

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.

artículo científico publicado en 2018

Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases

artículo científico publicado en 2015

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

artículo científico publicado en 2016

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

artículo científico publicado en 2016

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

artículo científico publicado en 2017

Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery

artículo científico publicado en 2013

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

artículo científico publicado en 2015

OR28-3 A Mutation in KCNK16 Segregating with Autosomal Dominant Non-Ketotic Diabetes Drastically Increases TALK-1 Membrane Current: A Novel Gene for MODY?

artículo científico publicado en 2019

Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

artículo científico publicado en 2021

Osteoporosis medication dispensing for older Australian women from 2002 to 2010: influences of publications, guidelines, marketing activities and policy.

artículo científico publicado en 2014

PET detectives: Molecular imaging for phaeochromocytomas and paragangliomas in the genomics era

scientific article published on 09 December 2020

PTHR1 Polymorphisms Influence BMD Variation through Effects on the Growing Skeleton

article

Peripartum management of glycemia in women with type 1 diabetes

artículo científico

Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma

artículo científico publicado en 2016

Pituitary gigantism treated successfully with the growth hormone receptor antagonist, pegvisomant

scientific article published on 01 March 2013

Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.

artículo científico publicado en 2017

Post-vaccination SARS-CoV-2 infection: risk factors and illness profile in a prospective, observational community-based case-control study

artículo científico publicado en 2021

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

artículo científico publicado en 2018

Primary amenorrhoea with hypertension: undiagnosed 17-α-hydroxylase deficiency

scientific article published on 01 October 2013

Prospective evaluation of a week one overnight metyrapone test with subsequent dynamic assessments of hypothalamic-pituitary-adrenal axis function after pituitary surgery

artículo científico publicado en 2017

Prospective evaluation of a week one overnight metyrapone test with subsequent dynamic assessments of hypothalamic-pituitary-adrenal axis function after pituitary surgery

artículo científico publicado en 2017

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.

artículo científico publicado en 2018

Reassessment of immortalization complementation group D.

artículo científico publicado en 1997

Response to Comment on Johnson et al. Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Qual

scientific article published on 01 May 2019

Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists

artículo científico publicado en 2011

SV40-induced immortalization and ras-transformation of human bronchial epithelial cells.

artículo científico publicado en 1995

Secondary prevention of osteoporosis in Australia: analysis of government-dispensed prescription data.

artículo científico publicado en 2010

Senescence and immortalization of human cells.

artículo científico publicado en 2000

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

scientific journal article

Site and Gender Specificity of Inheritance of Bone Mineral Density

article

Suggestive Linkage of the Parathyroid Receptor Type 1 to Osteoporosis

article

Susceptibility to ankylosing spondylitis in twins the role of genes, HLA, and the environment

article

The Genetic Architecture of High Bone Mass

artículo científico publicado en 2020

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

artículo científico publicado en 2014

The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community

artículo científico publicado en 2020

The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis

artículo científico publicado en 2015

The genetics of osteoporosis

artículo científico publicado en 2015

The physiological and glycaemic changes in breastfeeding women with type 1 diabetes mellitus

artículo científico publicado en 2017

The revolution in human monogenic disease mapping

artículo científico publicado en 2014

The role of 25-hydroxyvitamin D deficiency in promoting insulin resistance and inflammation in patients with chronic kidney disease: a randomised controlled trial

artículo científico publicado en 2009

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

scientific article published on 14 January 2020

Vitamin D does not improve the metabolic health of patients with chronic kidney disease stage 3-4: a randomized controlled trial

artículo científico publicado en 2013

Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene

artículo científico publicado en 2019

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

artículo científico publicado en 2012

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

artículo científico publicado en 2013

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

artículo científico publicado en 2014

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

scientific article published on 04 December 2013

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

artículo científico publicado en 2011

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

artículo científico publicado en 2018

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

artículo científico publicado en 2015

Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone

artículo científico publicado en 2019

Lista de obras de Emma L Duncan

'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

A brilliant breakthrough in OI type V.

A novel INS mutation in a family with MODY: variable insulin secretion and putative mechanisms

A novel putative collaborator of p19ARF

A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways.

A rare SMAD9 mutation identifies the BMP signalling pathway as a potential osteoanabolic target

Acute fluid shifts influence the assessment of serum vitamin D status in critically ill patients.

Analysis of body composition in individuals with high bone mass reveals a marked increase in fat mass in women but not men

Anxiety and depression symptoms after COVID-19 infection: results from the COVID Symptom Study app

Assignment of SV40-immortalized cells to more than one complementation group for immortalization

Association of FOXE1 polyalanine repeat region with papillary thyroid cancer

Association ofERAP1, but notIL23R, with ankylosing spondylitis in a Han Chinese population

Attributes and predictors of Long-COVID: analysis of COVID cases and their symptoms collected by the Covid Symptoms Study App ⬇️

Attributes and predictors of Long-COVID: analysis of COVID cases and their symptoms collected by the Covid Symptoms Study App

Attributes and predictors of long COVID

Atypical Femoral Fracture: A Fascinating Story in Evolution

Author Correction: Attributes and predictors of long COVID

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Bayesian approach to determining penetrance of pathogenic SDH variants

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

COL1A1C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study

Characteristics of early Paget's disease in SQSTM1 mutation carriers: Baseline analysis of the ZiPP study cohort

Characterization of Normal Murine Carpal Bone Development Prompts Re-Evaluation of Pathologic Osteolysis as the Cause of Human Carpal-Tarsal Osteolysis Disorders.

Clinical review 2: Genetic determinants of bone density and fracture risk--state of the art and future directions

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family

Cloning and characterization of a novel gene, striamin, that interacts with the tumor suppressor protein p53

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

Conclusions and future directions: 'The known unknowns ….'

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life

Counting the cost: estimating the number of deaths among recently released prisoners in Australia.

Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours.

Cross-calibration of dual-energy X-ray densitometers for a large, multi-center genetic study of osteoporosis

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Differential display of mRNA.

Disentangling post-vaccination symptoms from early COVID-19

Downregulation of metallothionein-IIA expression occurs at immortalization

Elevated circulating Sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations.

Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

Genetic studies in osteoporosis--the end of the beginning

Genetic studies of osteoporosis.

Genome-wide Association Studies

Genome-wide Association Study for Radiographic Vertebral Fractures: A Potential Role for the 16q24 BMD Locus versus Lessons Learned from Challenging Phenotype Definition

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus

Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci

Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Glycaemic behaviour during breastfeeding in women with Type 1 diabetes.

Glycaemic variability, assessed with continuous glucose monitors, is associated with diet, lifestyle and health in people without diabetes.

HLA and KIR Associations of Cervical Neoplasia

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.

Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies

Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies

Identification of a novel human mitochondrial D-loop RNA species which exhibits upregulated expression following cellular immortalization.

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

Illness duration and symptom profile in a large cohort of symptomatic UK school-aged children tested for SARS-CoV-2

Improving diagnosis of tumor-induced osteomalacia with Gallium-68 DOTATATE PET/CT.

Influence of LRP5 Polymorphisms on Normal Variation in BMD

Is there a role or target value for nutritional vitamin D in chronic kidney disease?

Isolation of a candidate human telomerase catalytic subunit gene, which reveals complex splicing patterns in different cell types.

LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion.

Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study.

Loss of wild-type ATRX expression in somatic cell hybrids segregates with activation of Alternative Lengthening of Telomeres

Malignant transformation of NIH3T3 cells by overexpression of mot-2 protein.

Mapping genes for osteoporosis--old dogs and new tricks

Marked increase in proton pump inhibitors use in Australia

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB.