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List of works by Emma Tham

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

scientific article

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

scientific article published on 22 August 2018

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

scientific article published in May 2005

Autosomal recessive brachyolmia: early radiological findings.

scientific article published on 21 August 2016

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

article

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

scientific article published on 26 January 2017

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

scientific article

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

scientific article published in February 2015

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

scientific article published on 08 April 2019

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

scientific article published in September 2007

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

scientific article published in October 2015

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

scientific article published in December 2006

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

scientific article published on 26 February 2015

Exome sequencing in 51 early onset non-familial CRC cases

scientific article published on 27 February 2019

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

scientific article published on 27 November 2017

Familial cancer among consecutive uterine cancer patients in Sweden

scientific article published on 7 May 2014

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

scientific article

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

scientific article published on 02 May 2016

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

scientific article published in June 2008

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

scientific article published on 22 August 2016

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

scientific article published on 2 April 2018

Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

scientific article published on 15 January 2019

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

scientific article published on 7 June 2018

Identification of nine new susceptibility loci for endometrial cancer

scientific article published in Nature Communications

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

scientific article

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

scientific article published on June 2004

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

scientific article published on 12 April 2016

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

scientific article published on 11 May 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

scientific article published on 23 January 2015

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

scientific article (publication date: 6 May 2011)

The gynecological surveillance of women with Lynch syndrome in Sweden

scientific article published on 12 July 2015

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

scientific article published in July 2002

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

scientific article published in October 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

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