Andreas Benneche
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Explore the profile of Andreas Benneche including associated specialties, affiliations and a list of published articles.
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10
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60
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Recent Articles
1.
Gunnes M, Benneche A, Bechensteen A
Tidsskr Nor Laegeforen
. 2024 Mar;
144(4).
PMID: 38506013
Background: Anemia in children is common and finding the underlying cause is often uncomplicated. However, in some cases, the underlying diagnosis is rare and difficult to diagnose. Case Presentation: A...
2.
Austestad J, Madland T, Sandnes M, Haslerud T, Benneche A, Reikvam H
Case Rep Hematol
. 2023 Mar;
2023:6551544.
PMID: 36879894
VEXAS syndrome stands for vacuoles, E1 enzyme, -linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the . There is...
3.
Sjogren T, Bratland E, Royrvik E, Grytaas M, Benneche A, Knappskog P, et al.
J Autoimmun
. 2022 Oct;
133:102917.
PMID: 36191466
Background: Autoantibodies against type I interferons (IFN) alpha (α) and omega (ω), and interleukins (IL) 17 and 22 are a hallmark of autoimmune polyendocrine syndrome type 1 (APS-1), caused by...
4.
Kozycki C, Kodati S, Huryn L, Wang H, Warner B, Jani P, et al.
Ann Rheum Dis
. 2022 Jul;
81(10):1453-1464.
PMID: 35868845
Objectives: To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in , is an autoinflammatory disease. Methods: This cohort...
5.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig M, Von Allmen G, et al.
Brain
. 2022 Jun;
145(8):2687-2703.
PMID: 35675510
Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and...
6.
Decker M, Agarwal A, Benneche A, Churpek J, Duployez N, Duvall A, et al.
Blood Adv
. 2022 Jan;
6(11):3195-3200.
PMID: 35026845
Familial platelet disorder with associated myeloid malignancies (RUNX1-familial platelet disorder [RUNX1-FPD]) is caused by heterozygous pathogenic germline variants of RUNX1. In the present study, we evaluate the applicability of transactivation...
7.
Jorgensen S, Buechner J, Myhre A, Galteland E, Spetalen S, Kulseth M, et al.
J Clin Immunol
. 2021 Dec;
42(2):404-420.
PMID: 34893945
Purpose: GATA2 deficiency is a rare primary immunodeficiency that has become increasingly recognized due to improved molecular diagnostics and clinical awareness. The only cure for GATA2 deficiency is allogeneic hematopoietic...
8.
Murch O, Jain V, Benneche A, Metcalfe K, Hobson E, Prescott K, et al.
Eur J Hum Genet
. 2021 Oct;
30(1):95-100.
PMID: 34645992
White-Sutton syndrome (WHSUS) is a neurodevelopmental disorder caused by heterozygous loss-of-function variants in POGZ. Through the Deciphering Developmental Disorders study and clinical testing, we identified 12 individuals from 10 families...
9.
Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, et al.
Hum Mutat
. 2021 May;
42(6):745-761.
PMID: 33942428
KARS1 encodes a lysyl-transfer RNA synthetase (LysRS) that links lysine to its cognate transfer RNA. Two different KARS1 isoforms exert functional effects in cytosol and mitochondria. Bi-allelic pathogenic variants in...
10.
Benneche A, Sandnes M, Bakke A, Reikvam H
Tidsskr Nor Laegeforen
. 2020 Nov;
140(16).
PMID: 33172243
Background: Elevated serum ferritin levels are common findings in clinical practice, usually caused by inflammation, liver disease, high alcohol consumption or malignancy, although it can occur in association with rare...