Annekatrin Wernstedt

Innsbruck, 6020, Austria

Last Updated: 09/26/2026

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Found 11 publications

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Journal: Biomolecules
Published: August 18, 2022

SLC26A1 is a major determinant of sulfate homeostasis in humans.

SLC26A1 is a major determinant of sulfate homeostasis in humans.

Journal: The Journal of clinical investigation
Published: May 23, 2022

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Journal: Human mutation
Published: September 25, 2019

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.

Journal: European journal of human genetics : EJHG
Published: March 31, 2016

Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation.

Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation.

Journal: Klinische Padiatrie
Published: August 11, 2015

PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference.

PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference.

Journal: Methods in molecular biology (Clifton, N.J.)
Published: May 15, 2014

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.

Journal: European journal of human genetics : EJHG
Published: April 12, 2014

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

Journal: Genes, chromosomes & cancer
Published: October 22, 2012

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Journal: European journal of human genetics : EJHG
Published: June 14, 2012

Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

Journal: DNA repair
Published: February 29, 2012

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Journal: Genes, chromosomes & cancer
Published: February 15, 2012
Showing 1-11 of 11

Last Updated: 09/26/2026