Ruxandra Bachmann-Gagescu

Ruxandra Bachmann-Gagescu

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Ruxandra Bachmann-Gagescu

Ruxandra Bachmann-Gagescu

Publications by authors named "Ruxandra Bachmann-Gagescu"

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22Publications

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A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome.

J Pathol 2019 Aug 17;248(4):393-395. Epub 2019 Jun 17.

Institute for Medical Genetics, University of Zurich, Schlieren, Switzerland.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/path.5291
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http://dx.doi.org/10.1002/path.5291DOI Listing
August 2019

The photoreceptor cilium and its diseases.

Curr Opin Genet Dev 2019 Jun 28;56:22-33. Epub 2019 Jun 28.

Institute of Molecular Life Sciences, University of Zurich, Winterthurerstrassse 190, 8057 Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.gde.2019.05.004DOI Listing
June 2019

Mortality in Joubert syndrome.

Am J Med Genet A 2017 May 28;173(5):1237-1242. Epub 2017 Mar 28.

Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38158DOI Listing
May 2017

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

PLoS Genet 2015 Oct 20;11(10):e1005575. Epub 2015 Oct 20.

Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.

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http://dx.doi.org/10.1371/journal.pgen.1005575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617701PMC
October 2015

[Genetic complexity of ciliopathies and novel genes identification].

Med Sci (Paris) 2014 Nov 10;30(11):1011-23. Epub 2014 Nov 10.

Institut moléculaire des sciences de la vie, Institut de médecine génétique, université de Zurich, Winterthurerstrasse 190, 8057 Zurich, Suisse.

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http://dx.doi.org/10.1051/medsci/20143011016DOI Listing
November 2014

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.

Hum Mol Genet 2011 Oct 4;20(20):4041-55. Epub 2011 Aug 4.

HHMI and Division of Basic Science, Fred Hutchinson Cancer Research Center, Seattle, WA 98109-1024, USA.

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http://dx.doi.org/10.1093/hmg/ddr332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177654PMC
October 2011

Myhre syndrome with ataxia and cerebellar atrophy.

Clin Dysmorphol 2011 Jul;20(3):156-9

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1097/MCD.0b013e3283468043DOI Listing
July 2011