Ufartes R - Search Results

1

CHARGE syndrome and related disorders: a mechanistic link.

Ufartes R, Grün R, Salinas G, Sitte M, Kahl F, Wong MTY, van Ravenswaaij-Arts CMA, Pauli S. Ufartes R, et al. Hum Mol Genet. 2021 Nov 16;30(23):2215-2224. doi: 10.1093/hmg/ddab183. Hum Mol Genet. 2021. PMID: 34230955

2

Sema3a plays a role in the pathogenesis of CHARGE syndrome.

Ufartes R, Schwenty-Lara J, Freese L, Neuhofer C, Möller J, Wehner P, van Ravenswaaij-Arts CMA, Wong MTY, Schanze I, Tzschach A, Bartsch O, Borchers A, Pauli S. Ufartes R, et al. Hum Mol Genet. 2018 Apr 15;27(8):1343-1352. doi: 10.1093/hmg/ddy045. Hum Mol Genet. 2018. PMID: 29432577

3

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.

Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S. Ufartes R, et al. Hum Genet. 2020 Nov;139(11):1363-1379. doi: 10.1007/s00439-020-02175-x. Epub 2020 May 18. Hum Genet. 2020. PMID: 32424618 Free PMC article.

4

Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome.

Pauli S, Berger H, Ufartes R, Borchers A. Pauli S, et al. Among authors: ufartes r. Front Cell Dev Biol. 2021 Nov 5;9:779009. doi: 10.3389/fcell.2021.779009. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34805182 Free PMC article. Review.

5

Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.

Ufartes R, Schneider T, Mortensen LS, de Juan Romero C, Hentrich K, Knoetgen H, Beilinson V, Moebius W, Tarabykin V, Alves F, Pardo LA, Rawlins JN, Stuehmer W. Ufartes R, et al. Hum Mol Genet. 2013 Jun 1;22(11):2247-62. doi: 10.1093/hmg/ddt076. Epub 2013 Feb 18. Hum Mol Genet. 2013. PMID: 23424202 Free PMC article.

6

KV 10.1 opposes activity-dependent increase in Ca²⁺ influx into the presynaptic terminal of the parallel fibre-Purkinje cell synapse.

Mortensen LS, Schmidt H, Farsi Z, Barrantes-Freer A, Rubio ME, Ufartes R, Eilers J, Sakaba T, Stühmer W, Pardo LA. Mortensen LS, et al. Among authors: ufartes r. J Physiol. 2015 Jan 1;593(1):181-96. doi: 10.1113/jphysiol.2014.281600. Epub 2014 Nov 25. J Physiol. 2015. PMID: 25556795 Free PMC article.

7

Periodic expression of Kv10.1 driven by pRb/E2F1 contributes to G2/M progression of cancer and non-transformed cells.

Urrego D, Movsisyan N, Ufartes R, Pardo LA. Urrego D, et al. Among authors: ufartes r. Cell Cycle. 2016;15(6):799-811. doi: 10.1080/15384101.2016.1138187. Cell Cycle. 2016. PMID: 27029528 Free PMC article.

8

μCT of ex-vivo stained mouse hearts and embryos enables a precise match between 3D virtual histology, classical histology and immunochemistry.

Dullin C, Ufartes R, Larsson E, Martin S, Lazzarini M, Tromba G, Missbach-Guentner J, Pinkert-Leetsch D, Katschinski DM, Alves F. Dullin C, et al. Among authors: ufartes r. PLoS One. 2017 Feb 8;12(2):e0170597. doi: 10.1371/journal.pone.0170597. eCollection 2017. PLoS One. 2017. PMID: 28178293 Free PMC article.

9

3D virtual histology of murine kidneys -high resolution visualization of pathological alterations by micro computed tomography.

Missbach-Guentner J, Pinkert-Leetsch D, Dullin C, Ufartes R, Hornung D, Tampe B, Zeisberg M, Alves F. Missbach-Guentner J, et al. Among authors: ufartes r. Sci Rep. 2018 Jan 23;8(1):1407. doi: 10.1038/s41598-018-19773-5. Sci Rep. 2018. PMID: 29362427 Free PMC article.

10

In vivo integrity of polymer-coated gold nanoparticles.

Kreyling WG, Abdelmonem AM, Ali Z, Alves F, Geiser M, Haberl N, Hartmann R, Hirn S, de Aberasturi DJ, Kantner K, Khadem-Saba G, Montenegro JM, Rejman J, Rojo T, de Larramendi IR, Ufartes R, Wenk A, Parak WJ. Kreyling WG, et al. Among authors: ufartes r. Nat Nanotechnol. 2015 Jul;10(7):619-23. doi: 10.1038/nnano.2015.111. Epub 2015 Jun 15. Nat Nanotechnol. 2015. PMID: 26076469

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