Publications by authors named "Carina Frykholm"

10Publications

Beyond the tubule: pathological variants of , encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease.

Authors:
Jennifer R Charlton Weizhen Tan Ghaleb Daouk Lisa Teot Seymour Rosen Kevin M Bennett Aleksandra Cwiek Sejin Nam Francesco Emma François Jouret João Paulo Oliveira Lisbeth Tranebjærg Carina Frykholm Shrikant Mane Friedhelm Hildebrandt Tarak Srivastava Tina Storm Erik Ilsø Christensen Rikke Nielsen

Am J Physiol Renal Physiol 2020 12 26;319(6):F988-F999. Epub 2020 Oct 26.

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

View Article and Find Full Text PDF
December 2020

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

Authors:
Carina Frykholm Joakim Klar Tatjana Tomanovic Adam Ameur Niklas Dahl

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.

View Article and Find Full Text PDF
December 2018

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

Authors:
Jin J Zhao Jonatan Halvardson Cecilia S Zander Ammar Zaghlool Patrik Georgii-Hemming Else Månsson Göran Brandberg Helena E Sävmarker Carina Frykholm Ekaterina Kuchinskaya Ann-Charlotte Thuresson Lars Feuk

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.

View Article and Find Full Text PDF
January 2018

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Authors:
Maria Wilbe Sanna Gudmundsson Josefin Johansson Adam Ameur Eva-Lena Stattin Göran Annerén Helena Malmgren Carina Frykholm Marie-Louise Bondeson

Prenat Diagn 2017 Nov 17;37(11):1146-1154. Epub 2017 Oct 17.

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

View Article and Find Full Text PDF
November 2017

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

Authors:
Maria Lodefalk Carina Frykholm Elisabeth Esbjörner Östen Ljunggren

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.

View Article and Find Full Text PDF
December 2016

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

Authors:
Carina Frykholm Joakim Klar Hanna Arnesson Anna-Carin Rehnman Marianne Lodahl Ulla Wedén Niklas Dahl Lisbeth Tranebjærg Nanna D Rendtorff

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.

View Article and Find Full Text PDF
May 2015

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.

Authors:
Tina Storm Lisbeth Tranebjærg Carina Frykholm Henrik Birn Pierre J Verroust Tryggve Nevéus Birgitta Sundelin Jens Michael Hertz Gerd Holmström Katharina Ericson Erik I Christensen Rikke Nielsen

Nephrol Dial Transplant 2013 Mar 9;28(3):585-91. Epub 2012 Oct 9.

Department of Biomedicine, Universityof Aarhus, Aarhus, Denmark.

View Article and Find Full Text PDF
March 2013

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

Authors:
Dana Gabriková Carina Frykholm Ulla Friberg Sara Lahsaee Miriam Entesarian Niklas Dahl Joakim Klar

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.

View Article and Find Full Text PDF
December 2010

Familial Ménière's disease in five generations.

Authors:
Carina Frykholm Hans-Christian Larsen Niklas Dahl Joakim Klar Helge Rask-Andersen Ulla Friberg

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

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

View Article and Find Full Text PDF
August 2006

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

Authors:
Joakim Klar Carina Frykholm Ulla Friberg Niklas Dahl

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

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

View Article and Find Full Text PDF
July 2006