Ploski R - Search Results

1

iPSC-derived myelinoids to study myelin biology of humans.

James OG, Selvaraj BT, Magnani D, Burr K, Connick P, Barton SK, Vasistha NA, Hampton DW, Story D, Smigiel R, Ploski R, Brophy PJ, Ffrench-Constant C, Lyons DA, Chandran S. James OG, et al. Among authors: ploski r. Dev Cell. 2021 May 3;56(9):1346-1358.e6. doi: 10.1016/j.devcel.2021.04.006. Dev Cell. 2021. PMID: 33945785 Free PMC article.

2

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.

Smigiel R, Biela M, Biernacka A, Stembalska A, Sasiadek M, Kosinska J, Rydzanicz M, Ploski R. Smigiel R, et al. Among authors: ploski r. Clin Genet. 2017 Dec;92(6):671-673. doi: 10.1111/cge.13080. Epub 2017 Oct 19. Clin Genet. 2017. PMID: 29052218 No abstract available.

3

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.

Matuszewska KE, Badura-Stronka M, Śmigiel R, Cabała M, Biernacka A, Kosinska J, Rydzanicz M, Winczewska-Wiktor A, Sasiadek M, Latos-Bieleńska A, Żemojtel T, Płoski R. Matuszewska KE, et al. Among authors: ploski r. Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212. Clin Dysmorphol. 2018. PMID: 29389715 No abstract available.

4

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.

Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R. Smigiel R, et al. Among authors: ploski r. Hum Mol Genet. 2018 Nov 1;27(21):3669-3674. doi: 10.1093/hmg/ddy277. Hum Mol Genet. 2018. PMID: 30124836 Free PMC article.

5

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2.

Smigiel R, Rozensztrauch A, Walczak A, Rydzanicz M, Stawinski P, Berghausen-Mazur M, Kostrzewa G, Sasiadek M, Ploski R. Smigiel R, et al. Among authors: ploski r. Clin Dysmorphol. 2019 Oct;28(4):211-214. doi: 10.1097/MCD.0000000000000292. Clin Dysmorphol. 2019. PMID: 31425299 No abstract available.

6

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: ploski r. 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.

7

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Malgorzata Sasiadek M, Ploski R. Slezak R, et al. Among authors: ploski r. Mol Genet Genomic Med. 2020 Oct;8(10):e1432. doi: 10.1002/mgg3.1432. Epub 2020 Jul 24. Mol Genet Genomic Med. 2020. PMID: 32705777 Free PMC article.

8

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes.

Wolańska E, Pollak A, Rydzanicz M, Pesz K, Kłaniewska M, Rozensztrauch A, Skiba P, Stawiński P, Płoski R, Śmigiel R. Wolańska E, et al. Among authors: ploski r. Genes (Basel). 2021 Feb 27;12(3):350. doi: 10.3390/genes12030350. Genes (Basel). 2021. PMID: 33673493 Free PMC article.

9

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.

Slezak R, Smigiel R, Obersztyn E, Pollak A, Dawidziuk M, Wiszniewski W, Bekiesinska-Figatowska M, Rydzanicz M, Ploski R, Gawlinski P. Slezak R, et al. Among authors: ploski r. Genes (Basel). 2021 Apr 19;12(4):594. doi: 10.3390/genes12040594. Genes (Basel). 2021. PMID: 33921653 Free PMC article.

10

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene.

Klaniewska M, Jedrzejowska M, Rydzanicz M, Paprocka J, Biela M, Wolanska E, Pollak A, Debek E, Sasiadek M, Ploski R, Gos M, Smigiel R. Klaniewska M, et al. Among authors: ploski r. Front Genet. 2021 Apr 28;12:620752. doi: 10.3389/fgene.2021.620752. eCollection 2021. Front Genet. 2021. PMID: 33995476 Free PMC article.

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