Ploski R - Search Results

1

Destabilization of mutated human PUS3 protein causes intellectual disability.

Lin TY, Smigiel R, Kuzniewska B, Chmielewska JJ, Kosińska J, Biela M, Biela A, Kościelniak A, Dobosz D, Laczmanska I, Chramiec-Głąbik A, Jeżowski J, Nowak J, Gos M, Rzonca-Niewczas S, Dziembowska M, Ploski R, Glatt S. Lin TY, et al. Among authors: ploski r. Hum Mutat. 2022 Dec;43(12):2063-2078. doi: 10.1002/humu.24471. Epub 2022 Oct 2. Hum Mutat. 2022. PMID: 36125428 Free PMC article.

2

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.

Ołdak M, Przybylska D, Kosińska J, Federowicz A, Woźniak K, Płoski R, Kowalewski C. Ołdak M, et al. Among authors: ploski r. Eur J Dermatol. 2013 May-Jun;23(3):404-6. doi: 10.1684/ejd.2013.2013. Eur J Dermatol. 2013. PMID: 23774754 No abstract available.

3

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

Ołdak M, Ścieżyńska A, Młynarski W, Borowiec M, Ruszkowska E, Szulborski K, Pollak A, Kosińska J, Mueller-Malesińska M, Stawiński P, Szaflik JP, Płoski R. Ołdak M, et al. Among authors: ploski r. Hum Mutat. 2014 Oct;35(10):1171-4. doi: 10.1002/humu.22620. Epub 2014 Aug 7. Hum Mutat. 2014. PMID: 25044830

4

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.

Kostera-Pruszczyk A, Kosinska J, Pollak A, Stawinski P, Walczak A, Wasilewska K, Potulska-Chromik A, Szczudlik P, Kaminska A, Ploski R. Kostera-Pruszczyk A, et al. Among authors: ploski r. J Peripher Nerv Syst. 2014 Sep;19(3):242-5. doi: 10.1111/jns.12088. J Peripher Nerv Syst. 2014. PMID: 25403865

5

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.

Rydzanicz M, Jagła M, Kosinska J, Tomasik T, Sobczak A, Pollak A, Herman-Sucharska I, Walczak A, Kwinta P, Płoski R. Rydzanicz M, et al. Among authors: ploski r. Clin Genet. 2017 May;91(5):769-773. doi: 10.1111/cge.12831. Epub 2016 Sep 16. Clin Genet. 2017. PMID: 27414745

6

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

Smigiel R, Kostrzewa G, Kosinska J, Pollak A, Stawinski P, Szmida E, Bloch M, Szymanska K, Karpinski P, Sasiadek MM, Ploski R. Smigiel R, et al. Among authors: ploski r. Am J Med Genet A. 2016 Dec;170(12):3265-3270. doi: 10.1002/ajmg.a.37887. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605359

7

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.

Kalinska-Bienias A, Pollak A, Kowalewski C, Lechowicz U, Stawinski P, Gergont A, Kosinska J, Pronicka E, Kowalski P, Wozniak K, Ploski R. Kalinska-Bienias A, et al. Among authors: ploski r. Am J Med Genet A. 2017 Nov;173(11):3093-3097. doi: 10.1002/ajmg.a.38403. Epub 2017 Sep 25. Am J Med Genet A. 2017. PMID: 28944608

8

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.

9

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.

Szczałuba K, Biernacka A, Szymańska K, Gasperowicz P, Kosińska J, Rydzanicz M, Płoski R. Szczałuba K, et al. Among authors: ploski r. Eur J Med Genet. 2018 Mar;61(3):157-160. doi: 10.1016/j.ejmg.2017.11.010. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174093 Review.

10

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.

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