Dzhoy Papingi
Overview
Explore the profile of Dzhoy Papingi including associated specialties, affiliations and a list of published articles.
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Articles
4
Citations
17
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0
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Recent Articles
1.
Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia
Wagner J, Al-Bazaz M, Forstreuter A, Hammada M, Hille J, Papingi D, et al.
Biomedicines
. 2024 Jan;
12(1).
PMID: 38255170
Introduction: Previously, it was assumed that genetic influence played a minor role in acute myeloid leukemia (AML). Increasing evidence of germline mutations has emerged, such as germline mutation associated with...
2.
Papingi D, Bierhals T, Volk A, Kutsche M, Paul K, Herget T
Am J Med Genet A
. 2023 Dec;
194(5):e63515.
PMID: 38135897
Biallelic pathogenic variants in the TTC26 gene are known to cause BRENS (biliary, renal, neurological, skeletal) syndrome, an ultra-rare autosomal recessive condition with only few patients published to date. BRENS...
3.
Wilke P, Biermann D, Grafmann M, Kozlik-Feldmann R, Papingi D, Sachweh J, et al.
Orphanet J Rare Dis
. 2023 Jul;
18(1):178.
PMID: 37408081
Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending on the location and size...
4.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, et al.
Clin Epigenetics
. 2022 Nov;
14(1):143.
PMID: 36345041
Background: Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed from only one parental allele. Disease may...