Saskia E van Mil
Overview
Explore the profile of Saskia E van Mil including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
18
Citations
758
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Roohollahi K, de Jong Y, van Mil S, Fabius A, Moll A, Dorsman J
Ophthalmol Sci
. 2022 Oct;
2(3):100188.
PMID: 36245757
Purpose: Retinoblastomas are malignant eye tumors diagnosed in young children. Most retinoblastomas are genetically characterized by biallelic inactivation of the gene. However, 1.5% of tumors demonstrate high-level amplification of the...
2.
Glykofridis I, Knol J, Balk J, Westland D, Pham T, Piersma S, et al.
Elife
. 2021 Jan;
10.
PMID: 33459596
Germline mutations in the Folliculin () tumor suppressor gene cause Birt-Hogg-Dubé (BHD) syndrome, a rare autosomal dominant disorder predisposing carriers to kidney tumors. is a conserved, essential gene linked to...
3.
van de Vrugt H, Harmsen T, Riepsaame J, Alexantya G, van Mil S, de Vries Y, et al.
Sci Rep
. 2019 Jan;
9(1):768.
PMID: 30683899
Fanconi anemia (FA) is a cancer predisposition syndrome characterized by congenital abnormalities, bone marrow failure, and hypersensitivity to aldehydes and crosslinking agents. For FA patients, gene editing holds promise for...
4.
Kooi I, van Mil S, MacPherson D, Mol B, Moll A, Meijers-Heijboer H, et al.
Genes Chromosomes Cancer
. 2016 Oct;
56(3):231-242.
PMID: 27750399
Several murine retinoblastoma models have been generated by deleting the genes encoding for retinoblastoma susceptibility protein pRb and one of its family members p107 or p130. In Rb p107 retinoblastomas,...
5.
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes
Kooi I, Mol B, Massink M, Ameziane N, Meijers-Heijboer H, Dommering C, et al.
Sci Rep
. 2016 Apr;
6:25264.
PMID: 27126562
Retinoblastoma is a rare childhood cancer initiated by RB1 mutation or MYCN amplification, while additional alterations may be required for tumor development. However, the view on single nucleotide variants is...
6.
Loss of photoreceptorness and gain of genomic alterations in retinoblastoma reveal tumor progression
Kooi I, Mol B, Moll A, van der Valk P, de Jong M, de Graaf P, et al.
EBioMedicine
. 2015 Aug;
2(7):660-70.
PMID: 26288838
Background: Retinoblastoma is a pediatric eye cancer associated with RB1 loss or MYCN amplification (RB1 (+/+) MYCN(A) ). There are controversies concerning the existence of molecular subtypes within RB1(-/-) retinoblastoma....
7.
Stoepker C, Ameziane N, van der Lelij P, Kooi I, Oostra A, Rooimans M, et al.
Cancer Res
. 2015 Jul;
75(17):3543-53.
PMID: 26122845
Failure to repair DNA damage or defective sister chromatid cohesion, a process essential for correct chromosome segregation, can be causative of chromosomal instability (CIN), which is a hallmark of many...
8.
Massink M, Kooi I, van Mil S, Jordanova E, Ameziane N, Dorsman J, et al.
Mol Oncol
. 2015 Jan;
9(4):877-88.
PMID: 25616998
Introduction: BRCA1-mutated breast carcinomas may have distinct biological features, suggesting the involvement of specific oncogenic pathways in tumor development. The identification of genomic aberrations characteristic for BRCA1-mutated breast carcinomas could...
9.
Stoepker C, Faramarz A, Rooimans M, van Mil S, Balk J, Velleuer E, et al.
DNA Repair (Amst)
. 2015 Jan;
26:54-64.
PMID: 25583207
The encouraging response rates of BRCA1- and BRCA2-mutated cancers toward PARP inhibitors make it worthwhile to identify other potential determinants of PARP inhibitor responsiveness. Since the Fanconi anemia (FA) pathway...
10.
Bakker J, Thirthagiri E, van Mil S, Adank M, Ikeda H, Verheul H, et al.
Hum Mutat
. 2014 Jan;
35(4):442-6.
PMID: 24395671
Fanconi anemia (FA) is a rare recessive disorder with chromosomal instability, congenital abnormalities, and a high cancer risk. The breast cancer susceptibility gene BRCA2 (FANCD1) is one of the 16...