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Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R. Materna-Kiryluk A, et al. Hum Mol Genet. 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035. Hum Mol Genet. 2021. PMID: 33517393
The pediatric common variable immunodeficiency - from genetics to therapy: a review.
Szczawinska-Poplonyk A, Schwartzmann E, Bukowska-Olech E, Biernat M, Gattner S, Korobacz T, Nowicki F, Wiczuk-Wiczewska M. Szczawinska-Poplonyk A, et al. Eur J Pediatr. 2022 Apr;181(4):1371-1383. doi: 10.1007/s00431-021-04287-6. Epub 2021 Dec 23. Eur J Pediatr. 2022. PMID: 34939152 Free PMC article. Review.
Imaging in children with ataxia-telangiectasia-The radiologist's approach.
Jończyk-Potoczna K, Potoczny J, Szczawińska-Popłonyk A. Jończyk-Potoczna K, et al. Among authors: szczawinska poplonyk a. Front Pediatr. 2022 Sep 16;10:988645. doi: 10.3389/fped.2022.988645. eCollection 2022. Front Pediatr. 2022. PMID: 36186632 Free PMC article.
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report.
Szczawińska-Popłonyk A, Popłonyk N, Badura-Stronka M, Juengling J, Huhn K, Biskup S, Bancerz B, Walkowiak J. Szczawińska-Popłonyk A, et al. Front Genet. 2023 Jun 6;14:1108852. doi: 10.3389/fgene.2023.1108852. eCollection 2023. Front Genet. 2023. PMID: 37347054 Free PMC article.
39 results