Publications by authors named "Sara Ekvall"

11Publications

Performance and user-friendliness of the rapid antigen detection tests QuickVue Dipstick Strep A test and DIAQUICK Strep A Blue Dipstick for pharyngotonsillitis caused by Streptococcus pyogenes in primary health care.

Authors:
Una Ørvim Sølvik Elisabet Eriksson Boija Sara Ekvall Afamia Jabbour Anne Christin Breivik Gunnar Nordin Sverre Sandberg

Eur J Clin Microbiol Infect Dis 2020 Sep 29. Epub 2020 Sep 29.

Department of Global Public Health and Primary Care, Faculty of Medicine, University of Bergen, Bergen, Norway.

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September 2020

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.

Authors:
Sanna Gudmundsson Maria Wilbe Beata Filipek-Górniok Anna-Maja Molin Sara Ekvall Josefin Johansson Amin Allalou Hans Gylje Vera M Kalscheuer Johan Ledin Göran Annerén Marie-Louise Bondeson

Sci Rep 2019 07 24;9(1):10730. Epub 2019 Jul 24.

Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, 751 08, Sweden.

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July 2019

Accuracy of determination of the glomerular filtration marker iohexol by European laboratories as monitored by external quality assessment.

Authors:
Gunnar Nordin Sara Ekvall Carolina Kristoffersson Ann-Sofie Jonsson Sten-Erik Bäck Niclas Rollborn Anders Larsson

Clin Chem Lab Med 2019 06;57(7):1006-1011

Department of Medical Sciences, Section of Clinical Chemistry, Uppsala University, Akademiska Sjukhuset, Entrance 61, 3rd Floor, Uppsala SE-75185, Sweden, Phone: +46 18 611 00 00, Fax: +46 18 611 37 03.

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June 2019

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Authors:
Sanna Gudmundsson Maria Wilbe Sara Ekvall Adam Ameur Nicola Cahill Ludmil B Alexandrov Marie Virtanen Maritta Hellström Pigg Anders Vahlquist Hans Törmä Marie-Louise Bondeson

Hum Mol Genet 2017 03;26(6):1070-1077

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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March 2017

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Authors:
Sara Ekvall Maria Wilbe Jovanna Dahlgren Eric Legius Arie van Haeringen Otto Westphal Göran Annerén Marie-Louise Bondeson

BMC Med Genet 2015 Oct 14;16:95. Epub 2015 Oct 14.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden.

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October 2015

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Authors:
Maria Wilbe Sara Ekvall Karin Eurenius Katharina Ericson Olivera Casar-Borota Joakim Klar Niklas Dahl Adam Ameur Göran Annerén Marie-Louise Bondeson

J Med Genet 2015 Mar 22;52(3):195-202. Epub 2015 Jan 22.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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March 2015

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Authors:
Sara Ekvall Kerstin Sjörs Anders Jonzon Mauno Vihinen Göran Annerén Marie-Louise Bondeson

Am J Med Genet A 2014 Mar 19;164A(3):579-87. Epub 2013 Dec 19.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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March 2014

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Authors:
Sara Ekvall Lars Hagenäs Judith Allanson Göran Annerén Marie-Louise Bondeson

Am J Med Genet A 2011 Jun 5;155A(6):1217-24. Epub 2011 May 5.

Department of Immunology, Genetics and Pathology, Uppsala University, Sweden.

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June 2011

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.

Authors:
Elisabeth Wittström Sara Ekvall Patrik Schatz Marie-Louise Bondeson Vesna Ponjavic Sten Andréasson

Ophthalmic Genet 2011 Jun 30;32(2):83-96. Epub 2010 Dec 30.

Department of Ophthalmology, Lund University, Sweden.

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June 2011

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

Authors:
Anna-Maja Nyström Sara Ekvall Ann-Charlotte Thuresson Ellen Denayer Eric Legius Masood Kamali-Moghaddam Bengt Westermark Göran Annerén Marie-Louise Bondeson

Eur J Med Genet 2010 May-Jun;53(3):117-21. Epub 2010 Mar 17.

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, SE-751 85 Uppsala, Sweden.

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October 2010

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

Authors:
Anna-Maja Nyström Sara Ekvall Bo Strömberg Gerd Holmström Ann-Charlotte Thuresson Göran Annerén Marie-Louise Bondeson

Acta Paediatr 2009 Apr 18;98(4):693-8. Epub 2008 Dec 18.

Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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April 2009