Lista de obras - Laura Arbour - Dominio Público Uruguay

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact

artículo científico publicado en 2008

Air pollution, neighbourhood and maternal-level factors modify the effect of smoking on birth weight: a multilevel analysis in British Columbia, Canada

artículo científico publicado en 2016

An Autosomal Dominant Form of Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy, Not Linked to the Sulfonylurea Receptor Locus1

scientific article published on 01 April 1997

Association Between Preeclampsia and Congenital Heart Defects

artículo científico publicado en 2015

Association of non-syndromic macrocephaly with autism.

artículo científico publicado en 2001

Autoimmune liver disease and the Canadian First Nations Aboriginal Communities of British Columbia's Pacific Northwest.

artículo científico publicado en 2006

Canadian Alliance for Healthy Hearts and Minds: First Nations Cohort Study Rationale and Design.

artículo científico publicado en 2018

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family

scientific article published on 28 January 2020

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

artículo científico publicado en 2010

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

artículo científico

Causes and risk factors for infant mortality in Nunavut, Canada 1999-2011

artículo científico publicado en 2012

Characteristics of primary biliary cirrhosis in British Columbia's First Nations population

artículo científico publicado en 2005

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

article

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

artículo científico publicado en 1998

Congenital anomalies in the offspring of nurses: association with area of employment during pregnancy

artículo científico publicado en 2011

Congenital microcephaly in Quebec: baseline prevalence, risk factors and outcomes in a large cohort of neonates.

artículo científico publicado en 2017

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation.

artículo científico publicado en 2016

DNA on loan: issues to consider when carrying out genetic research with aboriginal families and communities

artículo científico publicado en 2006

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

artículo científico publicado en 2009

Discordant Measures of Androgen-Binding Kinetics in Two Mutant Androgen Receptors Causing Mild or Partial Androgen Insensitivity, Respectively1

Elevated ambient temperatures and risk of neural tube defects.

artículo científico publicado en 2016

Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21

artículo científico publicado en 1996

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication

article

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

artículo científico publicado en 2017

Glutathione deficiency as a complication of methylmalonic acidemia: Response to high doses of ascorbate

scientific article published on 01 September 1996

Heart defects and other malformations in the Inuit in Canada: a baseline study

artículo científico publicado en 2004

Heavy smoking during pregnancy as a marker for other risk factors of adverse birth outcomes: a population-based study in British Columbia, Canada

artículo científico publicado en 2012

Hereditary angioedema managed with low-dose danazol and C1 esterase inhibitor concentrate: a case report

artículo científico publicado en 2006

Human exposure to environmental contaminants and congenital anomalies: a critical review

artículo científico publicado en 2016

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

artículo científico publicado en 2010

Indications for Liver Tranplantation in British Columbia’s Aboriginal Population: A 10-Year Retrospective Analysis

scientific article published on 01 October 2000

Inherited heart rhythm disease: negotiating the minefield for the practicing cardiologist

artículo científico

Inherited heart rhythm disorders: Diagnostic dilemmas after the sudden death of a young family member

Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous

artículo científico publicado en 1999

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

artículo científico publicado en 2017

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome

article by Erica Tsang et al published 17 August 2012 in American Journal of Medical Genetics

Long QT syndrome.

artículo científico publicado en 2011

Maternal risk factors for gastroschisis in Canada

artículo científico publicado en 2015

Multifactorial inheritance of non-syndromic macrocephaly

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

artículo científico publicado en 2003

Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome

artículo científico publicado en 2017

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

artículo científico publicado en 2006

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result

artículo científico publicado en 2016

Penetrance of Mutations in the Familial Wilms Tumor Gene FWT1

article

Pre-eclampsia and risk of infantile haemangioma

artículo científico publicado en 2016

Pregnancy outcomes of women with spina bifida

artículo científico publicado en 2018

Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management

artículo científico publicado en 2002

Primary Biliary Cholangitis in British Columbia First Nations: Clinical features and discovery of novel genetic susceptibility loci

artículo científico publicado en 2018

Race and ancestry in biomedical research: exploring the challenges

artículo científico publicado en 2009

Recognizing life-threatening causes of syncope

artículo científico publicado en 2013

Red blood cell folate levels in Canadian Inuit women of childbearing years: influence of food security, body mass index, smoking, education, and vitamin use

article

Retrospective review of pediatric and adult autoimmune hepatitis in two quaternary care centres in British Columbia: increased prevalence seen in British Columbia's First Nations community

artículo científico publicado en 2007

Risk of central nervous system defects in offspring of women with and without mental illness

artículo científico publicado en 2018

Sex Differences and Utility of Treadmill Testing in Long‐QT Syndrome

artículo científico publicado en 2022

Spatial variability of gastroschisis in Canada, 2006-2011: An exploratory analysis.

artículo científico publicado en 2016

Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population

artículo científico publicado en 2002

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

artículo científico publicado en 2008

The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment

artículo científico publicado en 2016

The Genetics of Cardiovascular Disease in Canadian and International Aboriginal Populations

artículo científico

The current state of birth outcome and birth defect surveillance in northern regions of the world

artículo científico publicado en 2009

The development of a comprehensive maternal-child health information system for Nunavut-Nutaqqavut (Our Children).

artículo científico publicado en 2011

The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene

article

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

artículo científico publicado en 2002

The mystery of primary biliary cirrhosis in British Columbia’s First Nations people

artículo científico publicado en 2004

The reduction of birth weight by fine particulate matter and its modification by maternal and neighbourhood-level factors: a multilevel analysis in British Columbia, Canada

artículo científico publicado en 2016

The shared pathoetiological effects of particulate air pollution and the social environment on fetal-placental development

artículo científico publicado en 2014

Understanding the personal and community impact of long QT syndrome: A perspective from Gitxsan women

scientific article published on 24 April 2020

Variable onset of metachromatic leukodystrophy in a Vietnamese family

artículo científico publicado en 2000

Lista de obras de Laura Arbour

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact

Air pollution, neighbourhood and maternal-level factors modify the effect of smoking on birth weight: a multilevel analysis in British Columbia, Canada

An Autosomal Dominant Form of Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy, Not Linked to the Sulfonylurea Receptor Locus1

Association Between Preeclampsia and Congenital Heart Defects

Association of non-syndromic macrocephaly with autism.

Autoimmune liver disease and the Canadian First Nations Aboriginal Communities of British Columbia's Pacific Northwest.

Canadian Alliance for Healthy Hearts and Minds: First Nations Cohort Study Rationale and Design.

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

Causes and risk factors for infant mortality in Nunavut, Canada 1999-2011

Characteristics of primary biliary cirrhosis in British Columbia's First Nations population

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

Congenital anomalies in the offspring of nurses: association with area of employment during pregnancy

Congenital microcephaly in Quebec: baseline prevalence, risk factors and outcomes in a large cohort of neonates.

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation.

DNA on loan: issues to consider when carrying out genetic research with aboriginal families and communities

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Discordant Measures of Androgen-Binding Kinetics in Two Mutant Androgen Receptors Causing Mild or Partial Androgen Insensitivity, Respectively1

Elevated ambient temperatures and risk of neural tube defects.

Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

Glutathione deficiency as a complication of methylmalonic acidemia: Response to high doses of ascorbate

Heart defects and other malformations in the Inuit in Canada: a baseline study

Heavy smoking during pregnancy as a marker for other risk factors of adverse birth outcomes: a population-based study in British Columbia, Canada

Hereditary angioedema managed with low-dose danazol and C1 esterase inhibitor concentrate: a case report

Human exposure to environmental contaminants and congenital anomalies: a critical review

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

Indications for Liver Tranplantation in British Columbia’s Aboriginal Population: A 10-Year Retrospective Analysis

Inherited heart rhythm disease: negotiating the minefield for the practicing cardiologist

Inherited heart rhythm disorders: Diagnostic dilemmas after the sudden death of a young family member

Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome

Long QT syndrome.

Maternal risk factors for gastroschisis in Canada

Multifactorial inheritance of non-syndromic macrocephaly

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result

Penetrance of Mutations in the Familial Wilms Tumor Gene FWT1

Pre-eclampsia and risk of infantile haemangioma

Pregnancy outcomes of women with spina bifida

Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management

Primary Biliary Cholangitis in British Columbia First Nations: Clinical features and discovery of novel genetic susceptibility loci

Race and ancestry in biomedical research: exploring the challenges

Recognizing life-threatening causes of syncope

Red blood cell folate levels in Canadian Inuit women of childbearing years: influence of food security, body mass index, smoking, education, and vitamin use

Retrospective review of pediatric and adult autoimmune hepatitis in two quaternary care centres in British Columbia: increased prevalence seen in British Columbia's First Nations community

Risk of central nervous system defects in offspring of women with and without mental illness

Sex Differences and Utility of Treadmill Testing in Long‐QT Syndrome

Spatial variability of gastroschisis in Canada, 2006-2011: An exploratory analysis.

Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment

The Genetics of Cardiovascular Disease in Canadian and International Aboriginal Populations

The current state of birth outcome and birth defect surveillance in northern regions of the world

The development of a comprehensive maternal-child health information system for Nunavut-Nutaqqavut (Our Children).

The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

The mystery of primary biliary cirrhosis in British Columbia’s First Nations people

The reduction of birth weight by fine particulate matter and its modification by maternal and neighbourhood-level factors: a multilevel analysis in British Columbia, Canada

The shared pathoetiological effects of particulate air pollution and the social environment on fetal-placental development

Understanding the personal and community impact of long QT syndrome: A perspective from Gitxsan women

Variable onset of metachromatic leukodystrophy in a Vietnamese family