Diantha Terlouw
Leiden, ZH, Netherlands
Last Updated: 09/26/2026
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Found 23 publications
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.
Journal: American journal of medical genetics. Part A
Published: November 19, 2025
Exploring APC Mosaicism in Upper Intestinal Tract Adenomas.
Journal: JCO precision oncology
Published: September 16, 2025
Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
Journal: Gastroenterology
Published: February 12, 2025
Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer.
Journal: Clinical epigenetics
Published: February 06, 2025
Recurrent MDM2 Amplification in the Spectrum of HMGA2-Altered Pleomorphic Adenoma, Atypical Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma.
Journal: Head and neck pathology
Published: February 02, 2025
An Unexpected Case of Somatic Mosaicism of the Dutch p16-Leiden Founder Variant in the CDKN2A Gene.
Journal: Case reports in genetics
Published: December 31, 2024
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.
Journal: HGG advances
Published: December 16, 2024
Lower Degree of Microsatellite Instability in Colorectal Carcinomas From MSH6-Associated Lynch Syndrome Patients.
Journal: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
Published: August 12, 2024
Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis.
Journal: Experimental and molecular pathology
Published: April 30, 2024
PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis.
Journal: Molecular cancer research : MCR
Published: October 05, 2023
Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.
Journal: Genes, chromosomes & cancer
Published: July 04, 2023
Last Updated: 09/26/2026