Kostrzewa G - Search Results

1

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: kostrzewa g. 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.

2

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: kostrzewa g. 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

3

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.

Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R. Rydzanicz M, et al. Among authors: kostrzewa g. Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254215 Free PMC article.

4

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

Rydzanicz M, Stradomska TJ, Jurkiewicz E, Jamroz E, Gasperowicz P, Kostrzewa G, Płoski R, Tylki-Szymańska A. Rydzanicz M, et al. Among authors: kostrzewa g. J Appl Genet. 2017 Nov;58(4):475-480. doi: 10.1007/s13353-017-0414-5. Epub 2017 Oct 18. J Appl Genet. 2017. PMID: 29047053

5

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.

Jezela-Stanek A, Walczak A, Łaźniewski M, Kosińska J, Stawiński P, Murcia Pienkowski V, Biernacka A, Rydzanicz M, Kostrzewa G, Krajewski P, Plewczyński D, Płoski R. Jezela-Stanek A, et al. Among authors: kostrzewa g. Clin Genet. 2019 Jun;95(6):736-738. doi: 10.1111/cge.13534. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30920656 No abstract available.

6

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: kostrzewa g. Clin Dysmorphol. 2019 Oct;28(4):211-214. doi: 10.1097/MCD.0000000000000292. Clin Dysmorphol. 2019. PMID: 31425299 No abstract available.

7

Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.

Stembalska A, Rydzanicz M, Pollak A, Kostrzewa G, Stawinski P, Biela M, Ploski R, Smigiel R. Stembalska A, et al. Among authors: kostrzewa g. Genes (Basel). 2021 Jul 16;12(7):1078. doi: 10.3390/genes12071078. Genes (Basel). 2021. PMID: 34356094 Free PMC article.

8

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.

Rydzanicz M, Zwoliński P, Gasperowicz P, Pollak A, Kostrzewa G, Walczak A, Konarzewska M, Płoski R. Rydzanicz M, et al. Among authors: kostrzewa g. Am J Med Genet A. 2021 Nov;185(11):3384-3389. doi: 10.1002/ajmg.a.62455. Epub 2021 Aug 27. Am J Med Genet A. 2021. PMID: 34448338

9

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: kostrzewa g. 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

10

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Skorvanek M, Dusek P, Rydzanicz M, Walczak A, Kosinska J, Kostrzewa G, Brzozowska M, Han V, Dosekova P, Gdovinova Z, Lehotska Z, Lisowski P, Ploski R. Skorvanek M, et al. Among authors: kostrzewa g. Parkinsonism Relat Disord. 2019 May;62:239-241. doi: 10.1016/j.parkreldis.2019.01.017. Epub 2019 Jan 24. Parkinsonism Relat Disord. 2019. PMID: 30733140 No abstract available.

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