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Lista de obras de Helena Kuivaniemi

A 15 base-pair AT-rich variable number tandem repeat in the type III procollagen gene (COL3A1) as an informative marker for 2q31-2q32.3

artículo científico publicado el 1 de febrero de 1992

A Single Base Mutation in Type III Procollagen That Converts the Codon for Glycine 619 to Arginine in a Family with Familial Aneurysms and Mild Bleeding Tendencies

A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

artículo científico publicado en 2019

A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans.

artículo científico publicado en 2006

A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough

artículo científico publicado en 2015

A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV

artículo científico publicado en 1997

A glycine (415)‐to‐serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers‐Danlos syndrome type IV

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

artículo científico publicado en 1990

A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica

article

A polymorphism in the matrix metalloproteinase-9 promoter is associated with increased risk of preterm premature rupture of membranes in African Americans.

artículo científico publicado en 2002

A review of genome-wide transcriptomics studies in Parkinson's disease

artículo científico publicado en 2017

A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T → C in African- and European-Americans

article

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

artículo científico publicado en 2013

A single nucleotide polymorphism in the matrix metalloproteinase-1 (MMP-1) promoter influences amnion cell MMP-1 expression and risk for preterm premature rupture of the fetal membranes.

artículo científico

A to G polymorphism in ELN gene

artículo científico publicado en 1991

Abdominal aortic aneurysms

artículo científico publicado en 2018

Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

artículo científico publicado en 1982

Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome ⬇️

artículo científico publicado el 20 de diciembre de 1983

Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms

article

Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19.

artículo científico publicado en 2011

Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia

artículo científico publicado en 2008

Aneurysm Outreach Inc., a Nonprofit Organization, Offers Community-Based, Ultrasonography Screening for Abdominal Aortic Aneurysms

artículo científico publicado en 2006

Aortic aneurysms: an immune disease with a strong genetic component

artículo científico publicado en 2008

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

artículo científico publicado en 2012

Are There Genes for Aneurysms in the Blueprint of the Human Genome?

article

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

artículo científico publicado en 2017

Association of Kallikrein Gene Polymorphisms With Intracranial Aneurysms

article

Association of simple renal cysts and chronic kidney disease with large abdominal aortic aneurysm

artículo científico publicado en 2020

Attitudes among South African university staff and students towards disclosing secondary genetic findings

artículo científico publicado en 2020

Bacterial vaginosis, the inflammatory response and the risk of preterm birth: a role for genetic epidemiology in the prevention of preterm birth

artículo científico publicado en 2004

Basic research studies to understand aneurysm disease.

artículo científico publicado en 2008

Binding sites for ETS family of transcription factors dominate the promoter regions of differentially expressed genes in abdominal aortic aneurysms

artículo científico publicado en 2009

Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network

artículo científico publicado en 2015

C to T polymorphism in exon 33 of the COL3A1 gene

artículo científico publicado en 1991

CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy

artículo científico publicado en 2002

Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes

artículo científico publicado en 2006

Challenges and opportunities in abdominal aortic aneurysm research.

artículo científico publicado en 2007

Community-based, nonprofit organization-sponsored ultrasonography screening program for abdominal aortic aneurysms is effective at identifying occult aneurysms

artículo científico publicado en 2006

Comorbidities Associated with Large Abdominal Aortic Aneurysms

scientific article published on 05 December 2019

Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records

artículo científico publicado en 2014

DNA sequencing as a method to identify mutations in patients with familial forms of aneurysms

artículo científico publicado el 1 de mayo de 1992

Deficient production of lysyl oxidase in cultures of malignantly transformed human cells

artículo científico publicado en 1986

Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta

artículo científico publicado en 1993

Developments in genomics to improve understanding, diagnosis and management of aneurysms and peripheral artery disease.

artículo científico publicado en 2009

Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta

scientific article published on 01 January 1996

Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

artículo científico publicado en 2017

Efficient DNA sequencing on microtiter plates using dried reagents and Bst DNA polymerase

artículo científico publicado en 1993

Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

scientific article published on 01 September 1995

Elevated expression of matrix metalloproteinase-13 in abdominal aortic aneurysms

artículo científico publicado en 2004

Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study

artículo científico publicado en 2006

Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease

artículo científico publicado en 2004

Expanding Horizons for Abdominal Aortic Aneurysms

artículo científico publicado en 2015

Expression of bone morphogenetic protein 2 in normal spontaneous labor at term, preterm labor, and preterm premature rupture of membranes.

artículo científico publicado en 2005

Expression of mRNAs for Lysyl Oxidase and Type III Procollagen in Cultured Fibroblasts from Patients with the Menkes and Occipital Horn Syndromes as Determined by Quantitative Polymerase Chain Reaction

artículo científico publicado en 1996

Familial Intracranial Aneurysms

Familial abdominal aortic aneurysms: Collection of 233 multiplex families

article

Familial intracranial aneurysms

artículo científico publicado en 1997

Family members of patients with abdominal aortic aneurysms are at increased risk for aneurysms: analysis of 618 probands and their families from the Liège AAA Family Study

artículo científico publicado en 2013

Fine mapping of the Schnyder's crystalline corneal dystrophy locus

artículo científico publicado en 2004

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

article

Functional Genomics and Proteomics in Term and Preterm Parturition

artículo científico publicado en 2002

Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM).

artículo científico publicado en 2004

G to A polymorphism in exon 31 of the COL3A1 gene

artículo científico publicado en 1990

Gene expression profile of an adenomyoepithelioma of the breast with a reciprocal translocation involving chromosomes 8 and 16

article

Gene expression studies in human abdominal aortic aneurysm

article

Gene expression study in positron emission tomography-positive abdominal aortic aneurysms identifies CCL18 as a potential biomarker for rupture risk

artículo científico publicado en 2014

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications

scientific article published on 01 February 2018

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications

scientific article published on 01 June 2019

Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.

artículo científico publicado en 2017

Genes and abdominal aortic aneurysm

artículo científico publicado en 2010

Genetic Association of Lipids and Lipid Drug Targets With Abdominal Aortic Aneurysm: A Meta-analysis

artículo científico publicado en 2017

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

artículo científico publicado en 2008

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

article

Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms

artículo científico publicado en 1999

Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms

artículo científico publicado en 2005

Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say

artículo científico publicado en 1991

Genetic risk models: Influence of model size on risk estimates and precision

artículo científico publicado en 2017

Genetic variation in the HLA region is associated with susceptibility to herpes zoster

artículo científico publicado en 2014

Genetics of abdominal aortic aneurysm ⬇️

artículo científico publicado el 1 de mayo de 2013

Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13

article published in 2004

Genome-wide approach to finding abdominal aortic aneurysm susceptibility genes in humans

artículo científico publicado en 2006

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

scientific journal article

Genome-wide expression profiling of fetal membranes reveals a deficient expression of proteinase inhibitor 3 in premature rupture of membranes

Global Expression Profiles in Human Normal and Aneurysmal Abdominal Aorta Based on Two Distinct Whole Genome Microarray Platforms

scientific article published on 01 November 2006

Gènes et anévrysmes de l’aorte abdominale

article

HLA-DQA Is Associated with Abdominal Aortic Aneurysms in the Belgian Population

article

High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus

artículo científico publicado en 2002

Highlights of the Recent Literature on Abdominal Aortic Aneurysm Research

artículo científico publicado en 2006

Human spontaneous labor without histologic chorioamnionitis is characterized by an acute inflammation gene expression signature

artículo científico publicado en 2006

Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association

artículo científico publicado en 2009

Identification of novel functional sequence variants in the gene for peptidase inhibitor 3.

artículo científico publicado en 2006

Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts

artículo científico publicado en 2016

Immunohistochemical analysis of the natural killer cell cytotoxicity pathway in human abdominal aortic aneurysms

artículo científico publicado en 2015

Imputation and quality control steps for combining multiple genome-wide datasets

artículo científico publicado en 2014

In response: abdominal aortic aneurysms: do not underestimate the role of diabetes

artículo científico publicado en 2015

Inhibition of Notch1 signaling reduces abdominal aortic aneurysm in mice by attenuating macrophage-mediated inflammation

artículo científico publicado en 2012

Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm

artículo científico publicado en 2007

Intracranial aneurysms in Finnish families: confirmation of linkage and refinement of the interval to chromosome 19q13.3.

artículo científico publicado en 2004

Klf15 deficiency is a molecular link between heart failure and aortic aneurysm formation

artículo científico publicado en 2010

MMP13 promoter polymorphism is associated with atherosclerosis in the abdominal aorta of young black males

scientific article published on 01 October 2002

Macrophage migration inhibitory factor in patients with preterm parturition and microbial invasion of the amniotic cavity

artículo científico publicado en 2005

Matricellular protein CCN3 mitigates abdominal aortic aneurysm

artículo científico publicado en 2016

Matricellular protein CCN3 mitigates abdominal aortic aneurysm

artículo científico publicado en 2016

Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data

artículo científico publicado en 2013

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci ⬇️

artículo científico publicado en 2016

MicroRNA analysis in placentas from patients with preeclampsia: comparison of new and published results

artículo científico publicado en 2013

MicroRNA expression signature in human abdominal aortic aneurysms

artículo científico publicado en 2012

Molecular basis and genetic predisposition to intracranial aneurysm

artículo científico publicado en 2014

Multiple Defects in Type III Collagen Synthesis Are Associated with the Pathogenesis of Abdominal Aortic Aneurysms

article

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

article by Helena Kuivaniemi et al published 1997 in Human Mutation

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

artículo científico publicado en 2007

New Insights Into Aortic Diseases: A Report From the Third International Meeting on Aortic Diseases (IMAD3)

artículo científico publicado en 2013

Novel genetic mechanisms for aortic aneurysms

artículo científico publicado en 2010

Novel pathways in the pathobiology of human abdominal aortic aneurysms

artículo científico publicado en 2012

Opportunities in abdominal aortic aneurysm research: epidemiology, genetics, and pathophysiology.

artículo científico publicado en 2012

P1-280

PS2-8: ePhenotyping for Abdominal Aortic Aneurysm.

artículo científico publicado en 2013

Parkinson's disease in Nigeria: A review of published studies and recommendations for future research

artículo científico publicado en 2018

Pathogenesis of abdominal aortic aneurysms: a multidisciplinary research program supported by the National Heart, Lung, and Blood Institute

artículo científico publicado en 2001

Patients with familial abdominal aortic aneurysms are at increased risk for endoleak and secondary intervention following elective endovascular aneurysm repair

artículo científico

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

artículo científico publicado en 2015

Pharmacological inhibition of Notch signaling regresses pre-established abdominal aortic aneurysm

artículo científico publicado en 2019

Pharmacological inhibitor of notch signaling stabilizes the progression of small abdominal aortic aneurysm in a mouse model.

artículo científico publicado en 2014

Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases

artículo científico publicado en 2016

Population risk factor estimates for abdominal aortic aneurysm from electronic medical records: a case control study

artículo científico publicado en 2014

Presence of Borrelia burgdorferi sensu lato antibodies in the serum of patients with abdominal aortic aneurysms.

artículo científico publicado en 2011

Primer-extension preamplified DNA is a reliable template for genotyping

artículo científico publicado en 2002

Proinflammatory role of stem cells in abdominal aortic aneurysms

artículo científico publicado en 2014

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2017

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2019

Quantitative polymerase chain reaction of lysyl oxidase mRNA in malignantly transformed human cell lines demonstrates that their low lysyl oxidase activity is due to low quantities of its mRNA and low levels of transcription of the respective gene.

artículo científico publicado en 1995

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms

artículo científico publicado en 2011

Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity

artículo científico publicado en 2014

Reply

Return of results in the genomic medicine projects of the eMERGE network

artículo científico publicado en 2014

Risk Factor Assessment in a Greek Cohort of Patients With Large Abdominal Aortic Aneurysms

artículo científico publicado en 2018

Role of complement cascade in abdominal aortic aneurysms

artículo científico publicado en 2011

Role of matrix metalloproteinase inhibitors in preventing abdominal aortic aneurysm

artículo científico publicado en 2007

SMAD3 deficiency promotes vessel wall remodeling, collagen fiber reorganization and leukocyte infiltration in an inflammatory abdominal aortic aneurysm mouse model.

artículo científico publicado en 2015

Schnydersche kristalline Hornhautdystrophie

article

Search for intracranial aneurysm susceptibility gene(s) using Finnish families

artículo científico publicado en 2002

Secretion of lysyl oxidase by cultured human skin fibroblasts and effects of monensin, nigericin, tunicamycin and colchicine

artículo científico publicado en 1986

Sex differences in abdominal aortic aneurysm: the role of sex hormones

artículo científico publicado en 2014

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

artículo científico publicado en 2016

Single Base Mutation in the Type III Procollagen Gene That Converts the Codon for Glycine 883 to Aspartate in a Proband with Mild Symptoms of Ehlers-Danlos Syndrome IV

article

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

article

Smooth muscle cell-specific Notch1 haploinsufficiency restricts the progression of abdominal aortic aneurysm by modulating CTGF expression.

artículo científico publicado en 2017

Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen

artículo científico publicado en 1988

Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation

artículo científico publicado en 1988

Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation

artículo científico publicado en 1996

Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV

Synthesis and conformational properties of a recombinant C-propeptide of human type III procollagen

artículo científico publicado en 1997

Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations

scientific article published on 02 August 2019

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients

scientific article published on 04 February 2020

Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV

article

The CARD15 2936insC mutation and TLR4 896 A>G polymorphism in African Americans and risk of preterm premature rupture of membranes (PPROM)

scientific article published on 01 November 2002

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future ⬇️

artículo científico publicado el 6 de junio de 2013

The Peripheral Blood Transcriptome Is Correlated With PET Measures of Lung Inflammation During Successful Tuberculosis Treatment

artículo científico publicado en 2021

The association of genetic variants of matrix metalloproteinases with abdominal aortic aneurysm: a systematic review and meta-analysis

artículo científico publicado en 2013

The design, execution, and interpretation of genetic association studies to decipher complex diseases.

artículo científico publicado en 2002

The effect of proteoglycans, collagen and lysyl oxidase on the metabolism of low density lipoprotein by macrophages

artículo científico publicado en 1986

The foundation of precision medicine: integration of electronic health records with genomics through basic, clinical, and translational research

artículo científico publicado en 2015

The lifetime prevalence of abdominal aortic aneurysms among siblings of aneurysm patients is eightfold higher than among siblings of spouses: an analysis of 187 aneurysm families in Nova Scotia, Canada

artículo científico publicado en 2005

The potential role of DNA methylation in abdominal aortic aneurysms

artículo científico publicado en 2015

The role of complement Factor H in age-related macular degeneration: a review.

scientific article published on May 2010

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

article

Three Single Base Mutations in Type III Procollagen Gene That Prevent Correct RNA Splicing in Variants of Ehlers-Danlos Syndrome IV

article

Three new polymorphisms at the COL1A2 locus

Toll-like receptor-2 and -4 in the chorioamniotic membranes in spontaneous labor at term and in preterm parturition that are associated with chorioamnionitis

artículo científico publicado en 2004

Transcriptional (ChIP-Chip) Analysis of ELF1, ETS2, RUNX1 and STAT5 in Human Abdominal Aortic Aneurysm

artículo científico publicado en 2015

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one‐fifth are recurrent

article

Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

article

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

artículo científico publicado en 1989

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

artículo científico publicado en 2019

Understanding the pathogenesis of abdominal aortic aneurysms

artículo científico publicado en 2015

Update on abdominal aortic aneurysm research: from clinical to genetic studies

artículo científico publicado en 2014

Web-site-based recruitment for research studies on abdominal aortic and intracranial aneurysms

artículo científico publicado en 2001

Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms

artículo científico publicado en 2007

eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants

artículo científico publicado en 2016

eMERGEing progress in genomics-the first seven years

artículo científico publicado en 2014

ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow

artículo científico publicado en 2015

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