Publications by authors named "Carina Frykholm"

10Publications

Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.

Eur J Hum Genet 2018 12 24;26(12):1871-1874. Epub 2018 Sep 24.

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

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December 2018

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 9;177(1):10-20. Epub 2017 Oct 9.

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

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January 2018

Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication.

Horm Res Paediatr 2016 17;85(3):213-8. Epub 2015 Dec 17.

Department of Paediatrics, Faculty of Medicine and Health, x00D6;rebro University, x00D6;rebro, Sweden.

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December 2016

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

Gene 2015 May 11;563(1):10-6. Epub 2015 Feb 11.

Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark; Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, DK-2400 Copenhagen NV, Denmark.

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May 2015

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association.

J Hum Genet 2010 Dec 7;55(12):834-7. Epub 2010 Oct 7.

Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds Väg 20, Uppsala, Sweden.

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December 2010

Familial Ménière's disease in five generations.

Otol Neurotol 2006 Aug;27(5):681-6

Department of Audiology, Uppsala University Hospital, Uppsala, Sweden.

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August 2006

A Meniere's disease gene linked to chromosome 12p12.3.

Am J Med Genet B Neuropsychiatr Genet 2006 Jul;141B(5):463-7

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

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July 2006