Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
O Murch, V Jain, A Benneche, K Metcalfe… - European Journal of …, 2022 - nature.com
White–Sutton syndrome (WHSUS) is a neurodevelopmental disorder caused by
heterozygous loss-of-function variants in POGZ. Through the Deciphering Developmental …
heterozygous loss-of-function variants in POGZ. Through the Deciphering Developmental …
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …
CT Kozycki, S Kodati, L Huryn, H Wang… - Annals of the …, 2022 - ard.bmj.com
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
Abstract 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 …
of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in …
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies
T Sjøgren, E Bratland, EC Røyrvik, MA Grytaas… - Journal of …, 2022 - Elsevier
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 …
interleukins (IL) 17 and 22 are a hallmark of autoimmune polyendocrine syndrome type 1 …
[HTML][HTML] A nationwide study of GATA2 deficiency in Norway—the majority of patients have undergone allo-HSCT
SF Jørgensen, J Buechner, AE Myhre… - Journal of Clinical …, 2022 - Springer
Purpose GATA2 deficiency is a rare primary immunodeficiency that has become
increasingly recognized due to improved molecular diagnostics and clinical awareness. The …
increasingly recognized due to improved molecular diagnostics and clinical awareness. The …
Validation and clinical application of transactivation assays for RUNX1 variant classification
M Decker, A Agarwal, A Benneche, J Churpek… - Blood …, 2022 - ashpublications.org
Familial platelet disorder with associated myeloid malignancies (RUNX1-familial platelet
disorder [RUNX1-FPD]) is caused by heterozygous pathogenic germline variants of RUNX1 …
disorder [RUNX1-FPD]) is caused by heterozygous pathogenic germline variants of RUNX1 …
[HTML][HTML] VEXAS syndrome in a patient with myeloproliferative neoplasia
J Austestad, TM Madland, M Sandnes… - Case Reports in …, 2023 - hindawi.com
VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic
syndrome. The syndrome is a combined hematological and rheumatological condition …
syndrome. The syndrome is a combined hematological and rheumatological condition …
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
G Cappuccio, C Ceccatelli Berti, E Baruffini… - Human …, 2021 - Wiley Online Library
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 …
transfer RNA. Two different KARS1 isoforms exert functional effects in cytosol and …
Hyperferritinaemia-cataract syndrome.
A Benneche, M Sandnes, Å Bakke… - Tidsskrift for den Norske …, 2020 - europepmc.org
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 …
inflammation, liver disease, high alcohol consumption or malignancy, although it can occur …
The Book of Man (in Twenty-Three Volumes)
A Benneche - Tidsskrift for Den norske legeforening, 2016 - tidsskriftet.no
Dette er en lærebok i hvordan avsløre svindel–skrevet for folk flest. Forfatteren er psykolog
og fast skribent for The New Yorker, og hun gir oss en grundig innføring i hvordan svindlere …
og fast skribent for The New Yorker, og hun gir oss en grundig innføring i hvordan svindlere …