Comparative genomic hybridisation.
MM Weiss, MA Hermsen, GA Meijer… - Molecular …, 1999 - ncbi.nlm.nih.gov
Comparative genomic hybridisation (CGH) is a technique that permits the detection of
chromosomal copy number changes without the need for cell culturing. It provides a global …
chromosomal copy number changes without the need for cell culturing. It provides a global …
Best Practice Guidelines for the Use of Next‐Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of D utch G enome D …
MM Weiss, B Van der Zwaag, JDH Jongbloed… - Human …, 2013 - Wiley Online Library
Next‐generation sequencing (NGS) methods are being adopted by genome diagnostics
laboratories worldwide. However, implementing NGS‐based tests according to diagnostic …
laboratories worldwide. However, implementing NGS‐based tests according to diagnostic …
[PDF][PDF] TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands
KRM van der Meij, EA Sistermans, MVE Macville… - The American Journal of …, 2019 - cell.com
The Netherlands launched a nationwide implementation study on non-invasive prenatal
testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 …
testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 …
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out
HPH Neumann, Z Erlic, CC Boedeker, LA Rybicki… - Cancer research, 2009 - AACR
Multiple genes and their variants that lend susceptibility to many diseases will play a major
role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are …
role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are …
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis
M Nielsen, FJ Hes, FM Nagengast, MM Weiss… - Clinical …, 2007 - Wiley Online Library
A small fraction of families with familial adenomatous polyposis (FAP) display an attenuated
form of FAP (AFAP). We aimed to assess the presence of germline mutations in the MUTYH …
form of FAP (AFAP). We aimed to assess the presence of germline mutations in the MUTYH …
Catalytic asymmetric synthesis of quaternary carbons bearing two aryl substituents. Enantioselective synthesis of 3-alkyl-3-aryl oxindoles by catalytic asymmetric …
AB Dounay, K Hatanaka, JJ Kodanko… - Journal of the …, 2003 - ACS Publications
A practical sequence involving three consecutive palladium (0)-catalyzed reactions has
been developed for synthesizing 3-alkyl-3-aryloxindoles in high enantiopurity. The Heck …
been developed for synthesizing 3-alkyl-3-aryloxindoles in high enantiopurity. The Heck …
[PDF][PDF] Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
G Beunders, E Voorhoeve, C Golzio, LM Pardo… - The American Journal of …, 2013 - cell.com
Genomic rearrangements involving AUTS2 (7q11. 22) are associated with autism and
intellectual disability (ID), although evidence for causality is limited. By combining the results …
intellectual disability (ID), although evidence for causality is limited. By combining the results …
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
M Nielsen, PF Franken, T Reinards… - Journal of medical …, 2005 - jmg.bmj.com
Objective: To investigate the contribution of MYH associated polyposis coli (MAP) among
polyposis families in the Netherlands, and the prevalence of colonic and extracolonic …
polyposis families in the Netherlands, and the prevalence of colonic and extracolonic …
Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact
D Oepkes, GC Page‐Christiaens, CJ Bax… - Prenatal …, 2016 - Wiley Online Library
Objective To evaluate the clinical impact of nationwide implementation of genome‐wide non‐
invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 …
invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 …
Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: a systematic review
PG Scheffer, SAM Wirjosoekarto, EC Becking… - Prenatal …, 2021 - Wiley Online Library
Objective Low fetal fraction (LFF) in prenatal cell‐free DNA (cfDNA) testing is an important
cause of test failure and no‐call results. LFF might reflect early abnormal placentation and …
cause of test failure and no‐call results. LFF might reflect early abnormal placentation and …