Lista de obras - Emma Tham - Dominio Público Uruguay

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

artículo científico publicado en 2015

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

artículo científico publicado en 2018

Antimicrobial protein hCAP18/LL-37 is highly expressed in breast cancer and is a putative growth factor for epithelial cells.

artículo científico publicado en 2005

Autosomal recessive brachyolmia: early radiological findings.

artículo científico publicado en 2016

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

artículo científico publicado en 2014

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

artículo científico publicado en 2017

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

artículo científico publicado en 2015

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

artículo científico publicado en 2015

Cell-free tumour DNA testing for early detection of cancer - a potential future tool

artículo científico publicado en 2019

Clinical Testing for Mutations in theMEN1Gene in Sweden: A Report on 200 Unrelated Cases

artículo científico publicado en 2007

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

artículo científico publicado en 2015

Decreased Expression of VEGF-A in Rat Experimental Autoimmune Encephalomyelitis and in Cerebrospinal Fluid Mononuclear Cells from Patients with Multiple Sclerosis

artículo científico publicado en 2006

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

artículo científico publicado en 2015

Exome sequencing in 51 early onset non-familial CRC cases

artículo científico publicado en 2019

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

artículo científico publicado en 2017

Familial cancer among consecutive uterine cancer patients in Sweden

artículo científico publicado en 2014

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

artículo científico publicado en 2014

Five endometrial cancer risk loci identified through genome-wide association analysis

artículo científico publicado en 2016

Gene symbol: MEN1. Disease: Multiple endocrine neoplasia type 1.

artículo científico publicado en 2008

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer

artículo científico publicado en 2016

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

artículo científico publicado en 2018

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

artículo científico publicado en 2019

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

artículo científico publicado en 2018

Identification of nine new susceptibility loci for endometrial cancer

artículo científico publicado en 2018

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

artículo científico publicado en 2015

Molecular identity, expression and functional analysis of interleukin-1alpha and its isoforms in rat testis.

artículo científico publicado en 2004

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

artículo científico publicado en 2016

Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors

artículo científico publicado en 2012

Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

scientific article published on 15 September 2020

Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients

artículo científico publicado en 2015

The expression of VEGF-A is down regulated in peripheral blood mononuclear cells of patients with secondary progressive multiple sclerosis

artículo científico publicado en 2011

The gynecological surveillance of women with Lynch syndrome in Sweden

artículo científico publicado en 2015

Upregulation of VEGF-A without angiogenesis in a mouse model of dilated cardiomyopathy caused by mitochondrial dysfunction

artículo científico publicado en 2002

Vascular endothelial growth factor is highly expressed in muscle tissue of patients with polymyositis and patients with dermatomyositis

artículo científico publicado en 2008

Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53

scientific article published on 13 January 2020

Lista de obras de Emma Tham

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Antimicrobial protein hCAP18/LL-37 is highly expressed in breast cancer and is a putative growth factor for epithelial cells.

Autosomal recessive brachyolmia: early radiological findings.

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

Cell-free tumour DNA testing for early detection of cancer - a potential future tool

Clinical Testing for Mutations in theMEN1Gene in Sweden: A Report on 200 Unrelated Cases

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

Decreased Expression of VEGF-A in Rat Experimental Autoimmune Encephalomyelitis and in Cerebrospinal Fluid Mononuclear Cells from Patients with Multiple Sclerosis

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

Exome sequencing in 51 early onset non-familial CRC cases

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Familial cancer among consecutive uterine cancer patients in Sweden

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

Five endometrial cancer risk loci identified through genome-wide association analysis

Gene symbol: MEN1. Disease: Multiple endocrine neoplasia type 1.

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

Identification of nine new susceptibility loci for endometrial cancer

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Molecular identity, expression and functional analysis of interleukin-1alpha and its isoforms in rat testis.

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors

Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients

The expression of VEGF-A is down regulated in peripheral blood mononuclear cells of patients with secondary progressive multiple sclerosis

The gynecological surveillance of women with Lynch syndrome in Sweden

Upregulation of VEGF-A without angiogenesis in a mouse model of dilated cardiomyopathy caused by mitochondrial dysfunction

Vascular endothelial growth factor is highly expressed in muscle tissue of patients with polymyositis and patients with dermatomyositis

Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53