Ilenia Simeoni

Ilenia Simeoni

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Ilenia Simeoni

Ilenia Simeoni

Publications by authors named "Ilenia Simeoni"

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17Publications

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Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.

Clin Immunol 2019 Jun 3;203:23-27. Epub 2019 Apr 3.

Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious diseases, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam UMC, University of Amsterdam, Department of Experimental Immunology, Amsterdam Infection & Immunity Institute, Meibergdreef 9, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2019.03.010DOI Listing
June 2019

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Orphanet J Rare Dis 2017 05 25;12(1):101. Epub 2017 May 25.

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1186/s13023-017-0654-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445308PMC
May 2017

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Blood 2016 06 15;127(23):2791-803. Epub 2016 Apr 15.

Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;

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http://dx.doi.org/10.1182/blood-2015-12-688267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016734PMC
June 2016

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Sci Transl Med 2016 Mar 2;8(328):328ra30. Epub 2016 Mar 2.

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1126/scitranslmed.aad7666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903547PMC
March 2016

Widespread transcription in an amphibian oocyte relates to its reprogramming activity on transplanted somatic nuclei.

Stem Cells Dev 2012 Jan 15;21(2):181-90. Epub 2011 Jun 15.

Wellcome Trust Cancer Research UK Gurdon Institute, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1089/scd.2011.0162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3636465PMC
January 2012

Distinct epigenomic features in end-stage failing human hearts.

Circulation 2011 Nov 24;124(22):2411-22. Epub 2011 Oct 24.

Division of Cardiovascular Medicine, University of Cambridge, Addenbrooke's Centre for Clinical Investigation, Level 6, Hills Rd, Cambridge, CB2 0QQ UK.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.111.040071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634158PMC
November 2011

Xenopus oocytes reactivate muscle gene transcription in transplanted somatic nuclei independently of myogenic factors.

Development 2009 Aug 15;136(16):2695-703. Epub 2009 Jul 15.

Wellcome Trust/Cancer Research UK Gurdon Institute, Cambridge, UK.

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http://dev.biologists.org/cgi/doi/10.1242/dev.036327
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http://dx.doi.org/10.1242/dev.036327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2730400PMC
August 2009

RyR1 and RyR3 isoforms provide distinct intracellular Ca2+ signals in HEK 293 cells.

J Cell Sci 2002 Jun;115(Pt 12):2497-504

Molecular Medicine Section, Department of Neuroscience, University of Siena, via Aldo Moro 5, Italy.

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June 2002

Imperatoxin a enhances Ca(2+) release in developing skeletal muscle containing ryanodine receptor type 3.

Biophys J 2002 Mar;82(3):1319-28

Department of Physiology and Biophysics, University of Illinois at Chicago College of Medicine, Chicago, Illinois 60607, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000634950275487
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1301934PMC
http://dx.doi.org/10.1016/S0006-3495(02)75487-8DOI Listing
March 2002