Rzońca SO - Search Results

1

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

Rzońca SO, Gos M, Szopa D, Sielska-Rotblum D, Landowska A, Szpecht-Potocka A, Milewski M, Czekajska J, Abramowicz A, Obersztyn E, Maciejko D, Mazurczak T, Bal J. Rzońca SO, et al. Genes (Basel). 2016 Sep 2;7(9):59. doi: 10.3390/genes7090059. Genes (Basel). 2016. PMID: 27598204 Free PMC article.

2

[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].

Landowska A, Rzońca S, Bal J, Gos M. Landowska A, et al. Dev Period Med. 2018;22(1):14-21. doi: 10.34763/devperiodmed.20182201.1421. Dev Period Med. 2018. PMID: 29641417 Free PMC article. Review. Polish.

3

[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .].

Landowska A, Rzońca S, Bal J, Gos M. Landowska A, et al. Dev Period Med. 2018;22(1):22-32. doi: 10.34763/devperiodmed.20182201.2232. Dev Period Med. 2018. PMID: 29641418 Free PMC article. Review. Polish.

4

[Non-invasive genetic prenatal diagnosis. Analysis of nucleic acids of foetal origin present in maternal vascular system].

Rzońca SO, Bal J. Rzońca SO, et al. Dev Period Med. 2014;18(2):247-55. Dev Period Med. 2014. PMID: 25182266 Polish.

5

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.

Charzewska A, Rzońca S, Janeczko M, Nawara M, Smyk M, Bal J, Hoffman-Zacharska D. Charzewska A, et al. Clin Genet. 2015 Sep;88(3):297-9. doi: 10.1111/cge.12528. Epub 2014 Nov 13. Clin Genet. 2015. PMID: 25394356 No abstract available.

6

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF. Piard J, et al. Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426. Hum Mol Genet. 2018. PMID: 29267967 Free PMC article.

7

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium; Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E. Niturad CE, et al. Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. Brain. 2017. PMID: 29053855

8

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy.

Oswiecimska J, Dawidziuk M, Gambin T, Ziora K, Marek M, Rzonca S, Guilbride DL, Jhangiani SN, Obuchowicz A, Sikora A, Lupski JR, Wiszniewski W, Gawlinski P. Oswiecimska J, et al. J Clin Res Pediatr Endocrinol. 2019 Sep 3;11(3):319-326. doi: 10.4274/jcrpe.galenos.2018.2018.0227. Epub 2018 Dec 19. J Clin Res Pediatr Endocrinol. 2019. PMID: 30563316 Free PMC article.

9

Soluble TNF-α receptor I encoded on plasmid vector and its application in experimental gene therapy of radiation-induced lung fibrosis.

Przybyszewska M, Miłoszewska J, Rzońca S, Trembacz H, Pyśniak K, Kotlarz A, Swoboda P, Zalewska M, Małecki M. Przybyszewska M, et al. Arch Immunol Ther Exp (Warsz). 2011 Aug;59(4):315-26. doi: 10.1007/s00005-011-0133-2. Epub 2011 Jun 3. Arch Immunol Ther Exp (Warsz). 2011. PMID: 21633916 Free article.

10

Rosiglitazone induces decreases in bone mass and strength that are reminiscent of aged bone.

Lazarenko OP, Rzonca SO, Hogue WR, Swain FL, Suva LJ, Lecka-Czernik B. Lazarenko OP, et al. Among authors: rzonca so. Endocrinology. 2007 Jun;148(6):2669-80. doi: 10.1210/en.2006-1587. Epub 2007 Mar 1. Endocrinology. 2007. PMID: 17332064 Free PMC article.

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