Tamara T Koopmann
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Explore the profile of Tamara T Koopmann including associated specialties, affiliations and a list of published articles.
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51
Citations
1878
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Recent Articles
1.
Schouw M, Ruivenkamp C, Koopmann T, Santen G, Nikkels P, van der Tuin K
Am J Med Genet A
. 2024 Dec;
:e63972.
PMID: 39711104
Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen. Type...
2.
van der Meij E, Smiers F, Koopmann T, Krapels I, LePoole K, Lopriore E, et al.
Prenat Diagn
. 2024 Nov;
PMID: 39488721
Aim: In this article, we present two cases of severe fetal hemolytic anemia based on a beta-thalassaemia trait inherited from a single parent. Results: These cases, presented at 20 and...
3.
Nik Mohd Hasan N, Arkesteijn S, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, et al.
Int J Lab Hematol
. 2024 Oct;
47(2):326-329.
PMID: 39380484
No abstract available.
4.
Harteveld C, Achour A, Fairuz Mohd Hasan N, Legebeke J, Arkesteijn S, Ter Huurne J, et al.
Int J Mol Sci
. 2024 Aug;
25(16).
PMID: 39201615
It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such as sickle cell disease and thalassemia....
5.
Wu H, Van de Peppel I, Rutten J, Jukema J, Aten E, Jazet I, et al.
J Cardiovasc Dev Dis
. 2024 Mar;
11(3).
PMID: 38535109
Mutations in the -gene can cause a variety of 'laminopathies'. These laminopathies are associated with a range of phenotypes, including disorders affecting the adipose tissue, peripheral nerves, the heart, such...
6.
Pham C, Koopmann T, Vinocur J, Blom N, Silbiger V, Mittal K, et al.
Clin Genet
. 2024 Mar;
106(1):37-46.
PMID: 38424693
Genetic missense variants in TNNI3K, encoding troponin-I interacting kinase, have been associated with dilated cardiomyopathy (DCM) and observed in families with supraventricular tachycardias (SVT). Previously, a family harboring the TNNI3K-c.1615A ...
7.
Polyakova E, van Gils J, Stoger J, Kies P, Egorova A, Koopmann T, et al.
Circ Genom Precis Med
. 2023 Oct;
16(6):e004184.
PMID: 37818629
No abstract available.
8.
Bos T, Piers S, Wessels M, Houweling A, Bokenkamp R, Bootsma M, et al.
Neth Heart J
. 2023 Jul;
31(7-8):315-323.
PMID: 37505369
Background: The arrhythmogenic cardiomyopathy (ACM) phenotype, with life-threatening ventricular arrhythmias and heart failure, varies according to genetic aetiology. We aimed to characterise the phenotype associated with the variant c.1211dup (p.Val406Serfs*4)...
9.
Copier J, Bootsma M, Ng C, Wilde A, Bertels R, Bikker H, et al.
Hum Mol Genet
. 2022 Oct;
32(7):1072-1082.
PMID: 36269083
Background: Variants in KCNH2, encoding the human ether a-go-go (hERG) channel that is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to long...
10.
Koopmann T, Jamshidi Y, Naghibi-Sistani M, van der Klift H, Birjandi H, Al-Hassnan Z, et al.
Eur J Hum Genet
. 2022 Oct;
31(1):97-104.
PMID: 36253531
Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However,...