Magdeldin Elgizouli
Overview
Explore the profile of Magdeldin Elgizouli including associated specialties, affiliations and a list of published articles.
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20
Citations
274
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Recent Articles
1.
Lessel I, Baresic A, Chinn I, May J, Goenka A, Chandler K, et al.
Am J Hum Genet
. 2025 Jan;
112(2):394-413.
PMID: 39798569
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants...
2.
Nicoletti T, Elgizouli M, Warnatz K, Roth P, Reimann R
Acta Neurol Belg
. 2024 Dec;
PMID: 39695015
No abstract available.
3.
Zeckanovic A, Scheidegger N, Prader S, Thanikkel L, Elgizouli M, Bodmer N
Pediatr Blood Cancer
. 2024 Nov;
72(2):e31461.
PMID: 39558856
No abstract available.
4.
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
Soomann M, Bily V, Elgizouli M, Kraemer D, Akgul G, von Bernuth H, et al.
J Allergy Clin Immunol
. 2024 Aug;
154(5):1313-1324.e7.
PMID: 39147326
Background: Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of severe B-cell deficiency, with only 8 documented cases in the literature. Surprisingly, the first...
5.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff J, et al.
Genet Med
. 2023 May;
25(8):100885.
PMID: 37165955
Purpose: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. Methods: By international collaboration, we assembled...
6.
Hummel E, Elgizouli M, Sicorello M, Leitao E, Beygo J, Schroder C, et al.
Sci Rep
. 2022 Oct;
12(1):17347.
PMID: 36253434
DNA methylation patterns can be responsive to environmental influences. This observation has sparked interest in the potential for psychological interventions to influence epigenetic processes. Recent studies have observed correlations between...
7.
Hysaj O, Marques-Gallego P, Richard A, Elgizouli M, Nieters A, Quack Lotscher K, et al.
Nutrients
. 2021 Jan;
13(2).
PMID: 33504033
We aimed to assess the parathyroid hormone (PTH) concentration in pregnant women at the beginning of pregnancy (1st trimester) and within days before delivery (3rd trimester) and evaluate its determinants....
8.
Meyer R, Begemann M, Hubner C, Dey D, Kuechler A, Elgizouli M, et al.
Orphanet J Rare Dis
. 2021 Jan;
16(1):42.
PMID: 33482836
Background: Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is reflected...
9.
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, et al.
Orphanet J Rare Dis
. 2020 Oct;
15(1):294.
PMID: 33076953
Background: MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is...
10.
Paul L, Rupprich K, Marina A, Stein A, Elgizouli M, Kaiser F, et al.
Orphanet J Rare Dis
. 2020 Sep;
15(1):242.
PMID: 32907597
Background: Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause...