Bettina Blaumeiser
Overview
Explore the profile of Bettina Blaumeiser 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
49
Citations
1215
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.
Friedrich A, Schmitz M, Gossmann Y, Redler S, Blaumeiser B, Lutz G, et al.
Allergy
. 2025 Jan;
PMID: 39775704
No abstract available.
2.
Steinfort K, Fransen E, Blaumeiser B, Janssens K
Prenat Diagn
. 2024 Aug;
44(10):1210-1217.
PMID: 39109776
Objective: Increasing the PPV of monosomy X detected by the non-invasive prenatal test (NIPT) by discriminating a (mosaic) monosomy X genotype of fetal versus maternal origin. Methods: Out of 30,700...
3.
Rosenblum J, Blaumeiser B, Janssens K
Placenta
. 2024 May;
152:17-22.
PMID: 38744036
Introduction: Confined placental mosaicism (CPM) is thought to be one of the main sources of false-positive prenatal cell-free DNA (cfDNA) screening results, but extensive and systematic studies to prove this...
4.
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development
Guillemyn B, De Saffel H, Bek J, Tapaneeyaphan P, De Clercq A, Jarayseh T, et al.
J Bone Miner Res
. 2023 Sep;
38(11):1718-1730.
PMID: 37718532
SNARE proteins comprise a conserved protein family responsible for catalyzing membrane fusion during vesicle traffic. Syntaxin18 (STX18) is a poorly characterized endoplasmic reticulum (ER)-resident t-SNARE. Recently, together with TANGO1 and...
5.
Parijs I, Brison N, Vancoillie L, Baetens M, Blaumeiser B, Boulanger S, et al.
Eur J Hum Genet
. 2023 Apr;
32(1):31-36.
PMID: 37029316
Maternally inherited 15q11-q13 duplications are generally found to cause more severe neurodevelopmental anomalies compared to paternally inherited duplications. However, this assessment is mainly inferred from the study of patient populations,...
6.
Janicki E, De Rademaeker M, Meunier C, Boeckx N, Blaumeiser B, Janssens K
Diagnostics (Basel)
. 2023 Mar;
13(5).
PMID: 36900003
Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly...
7.
Jacquemin V, Versbraegen N, Duerinckx S, Massart A, Soblet J, Perazzolo C, et al.
Hum Genomics
. 2023 Mar;
17(1):16.
PMID: 36859317
Background: Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydrocephalus is a...
8.
Basmanav F, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser D, et al.
JAMA Dermatol
. 2022 Aug;
158(11):1245-1253.
PMID: 36044230
Importance: Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only...
9.
Janicki E, Janssens K, Blaumeiser B
Prenat Diagn
. 2021 Dec;
42(2):236-239.
PMID: 34962654
No abstract available.
10.
Marangoni M, Smits G, Ceysens G, Costa E, Coulon R, Daelemans C, et al.
Genet Med
. 2021 Dec;
24(2):344-363.
PMID: 34906519
Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led...