Agnieszka Koppolu - Search Results

Year	Number of Results
2017	1
2018	6
2019	5
2020	1
2021	4
2022	1
2024	0

1

Clinico-pathological correlation in case of BRAT1 mutation.

Szymańska K, Laure-Kamionowska M, Szczałuba K, Koppolu A, Furmanek M, Kuśmierska K, Boniel S, Płoski R, Rydzanicz M. Szymańska K, et al. Among authors: koppolu a. Folia Neuropathol. 2018;56(4):362-371. doi: 10.5114/fn.2018.80870. Folia Neuropathol. 2018. PMID: 30786674 Free article.

2

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R. Smigiel R, et al. Among authors: koppolu aa. J Hum Genet. 2018 Apr;63(4):517-520. doi: 10.1038/s10038-017-0391-x. Epub 2018 Feb 6. J Hum Genet. 2018. PMID: 29410511 Review.

3

Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.

Koppolu A, Maksym RB, Paskal W, Machnicki M, Rak B, Pępek M, Garbicz F, Pełka K, Kuśmierczyk Z, Jacko J, Rydzanicz M, Banach-Orłowska M, Stokłosa T, Płoski R, Malejczyk J, Włodarski PK. Koppolu A, et al. Cells. 2021 Mar 29;10(4):749. doi: 10.3390/cells10040749. Cells. 2021. PMID: 33805315 Free PMC article.

4

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

Grzywa TM, Koppolu AA, Paskal W, Klicka K, Rydzanicz M, Wejman J, Płoski R, Włodarski PK. Grzywa TM, et al. Among authors: koppolu aa. Int J Mol Sci. 2021 Apr 9;22(8):3886. doi: 10.3390/ijms22083886. Int J Mol Sci. 2021. PMID: 33918692 Free PMC article.

5

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

Koppolu AA, Madej-Pilarczyk A, Rydzanicz M, Kosińska J, Gasperowicz P, Dorszewska J, Kozubski W, Steinborn B, Kochański AM, Płoski R. Koppolu AA, et al. Folia Neuropathol. 2017;55(3):214-220. doi: 10.5114/fn.2017.70486. Folia Neuropathol. 2017. PMID: 28984114 Free article. Review.

6

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

Rydzanicz M, Glinkowski W, Walczak A, Koppolu A, Kostrzewa G, Gasperowicz P, Pollak A, Stawiński P, Płoski R. Rydzanicz M, et al. Among authors: koppolu a. Am J Med Genet A. 2022 May;188(5):1482-1487. doi: 10.1002/ajmg.a.62670. Epub 2022 Feb 2. Am J Med Genet A. 2022. PMID: 35112464

7

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

Szczałuba K, Mierzewska H, Śmigiel R, Kosińska J, Koppolu A, Biernacka A, Stawiński P, Pollak A, Rydzanicz M, Płoski R. Szczałuba K, et al. Among authors: koppolu a. J Appl Genet. 2020 May;61(2):213-218. doi: 10.1007/s13353-020-00552-w. Epub 2020 Mar 12. J Appl Genet. 2020. PMID: 32166732 Free PMC article.

8

FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.

Krenke K, Szczałuba K, Bielecka T, Rydzanicz M, Lange J, Koppolu A, Płoski R. Krenke K, et al. Among authors: koppolu a. Clin Genet. 2019 Nov;96(5):468-472. doi: 10.1111/cge.13614. Epub 2019 Aug 6. Clin Genet. 2019. PMID: 31355908

9

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.

Pilch J, Koppolu AA, Walczak A, Murcia Pienkowski VA, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R. Pilch J, et al. Among authors: koppolu aa. Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2. Clin Genet. 2018. PMID: 29938792

10

A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation.

Kotlinowski J, Bukowska-Strakova K, Koppolu A, Kosińska J, Pydyn N, Stawinski P, Wilamowski M, Nowak W, Józkowicz A, Baran J, Płoski R, Jura J. Kotlinowski J, et al. Among authors: koppolu a. Front Genet. 2019 Feb 26;10:140. doi: 10.3389/fgene.2019.00140. eCollection 2019. Front Genet. 2019. PMID: 30863427 Free PMC article.

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