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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7.
Am J Hum Genet. 2021.
PMID: 34102099
Free PMC article.
Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.
Pesz K, Pienkowski VM, Pollak A, Gasperowicz P, Sykulski M, Kosińska J, Kiszko M, Krzykwa B, Bartnik-Głaska M, Nowakowska B, Rydzanicz M, Sasiadek MM, Płoski R.
Pesz K, et al. Among authors: pienkowski vm.
Eur J Med Genet. 2018 Oct;61(10):596-601. doi: 10.1016/j.ejmg.2018.03.013. Epub 2018 Apr 3.
Eur J Med Genet. 2018.
PMID: 29621621
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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P.
Koop K, et al. Among authors: pienkowski vm.
Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130.
Hum Mol Genet. 2023.
PMID: 37552066
Free PMC article.
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A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.
Krygier M, Kwarciany M, Wasilewska K, Pienkowski VM, Krawczyńska N, Zielonka D, Kosińska J, Stawinski P, Rudzińska-Bar M, Boczarska-Jedynak M, Karaszewski B, Limon J, Sławek J, Płoski R, Rydzanicz M.
Krygier M, et al. Among authors: pienkowski vm.
Clin Genet. 2019 Mar;95(3):415-419. doi: 10.1111/cge.13489. Epub 2019 Jan 8.
Clin Genet. 2019.
PMID: 30548255
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Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.
Dosekova P, Dubiel A, Karlowicz A, Zietkiewicz S, Rydzanicz M, Habalova V, Pienkowski VM, Skirkova M, Han V, Mosejova A, Gdovinova Z, Kaliszewska M, Tońska K, Szymanski MR, Skorvanek M, Ploski R.
Dosekova P, et al. Among authors: pienkowski vm.
Eur J Med Genet. 2020 Apr;63(4):103821. doi: 10.1016/j.ejmg.2019.103821. Epub 2019 Nov 26.
Eur J Med Genet. 2020.
PMID: 31778857
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Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant".
Dosekova P, Dubiel A, Karlowicz A, Zietkiewicz S, Rydzanicz M, Habalova V, Pienkowski VM, Skirkova M, Han V, Mosejova A, Gdovinova Z, Kaliszewska M, Tońska K, Szymanski MR, Skorvanek M, Ploski R.
Dosekova P, et al. Among authors: pienkowski vm.
Eur J Med Genet. 2020 May;63(5):103900. doi: 10.1016/j.ejmg.2020.103900. Epub 2020 Mar 9.
Eur J Med Genet. 2020.
PMID: 32165262
No abstract available.
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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.
Stembalska A, Rydzanicz M, Walas W, Gasperowicz P, Pollak A, Pienkowski VM, Biela M, Klaniewska M, Gamrot Z, Gronska E, Ploski R, Smigiel R.
Stembalska A, et al. Among authors: pienkowski vm.
Genes (Basel). 2022 Apr 21;13(5):725. doi: 10.3390/genes13050725.
Genes (Basel). 2022.
PMID: 35627110
Free PMC article.
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TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure.
Poszewiecka B, Pienkowski VM, Nowosad K, Robin JD, Gogolewski K, Gambin A.
Poszewiecka B, et al. Among authors: pienkowski vm.
Nucleic Acids Res. 2022 Jul 5;50(W1):W744-W752. doi: 10.1093/nar/gkac318.
Nucleic Acids Res. 2022.
PMID: 35524567
Free PMC article.
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