Publications by authors named "Eirik Frengen"

48Publications

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.

Clin Dysmorphol 2020 Apr;29(2):107-110

Department of Paediatric Neurology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital.

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http://dx.doi.org/10.1097/MCD.0000000000000314DOI Listing
April 2020

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

Pediatr Neurol 2019 07 13;96:74-75. Epub 2019 Feb 13.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.001DOI Listing
July 2019

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

Neuromuscul Disord 2016 09 22;26(9):570-5. Epub 2016 Jun 22.

Faculty of Medicine, University of Oslo, Oslo, Norway; Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.06.457DOI Listing
September 2016

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Eur J Med Genet 2016 Jun 13;59(6-7):342-6. Epub 2016 May 13.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.05.005DOI Listing
June 2016

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

BMC Med Genet 2015 Dec 18;16:113. Epub 2015 Dec 18.

Department of Medical Genetics, Oslo University Hospital, Box 4950, 0424, Oslo, Norway.

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http://dx.doi.org/10.1186/s12881-015-0260-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683784PMC
December 2015

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.

Mol Cytogenet 2015 31;8:57. Epub 2015 Jul 31.

Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.

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http://dx.doi.org/10.1186/s13039-015-0157-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521466PMC
August 2015

Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay.

Am J Med Genet A 2015 Aug 6;167A(8):1890-6. Epub 2015 Apr 6.

Department of Medical Genetics, Oslo University Hospital, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.37079DOI Listing
August 2015

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

Am J Med Genet A 2015 Mar;167A(3):657-63

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.36944DOI Listing
March 2015

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

Eur J Med Genet 2014 Sep 7;57(9):513-9. Epub 2014 Jun 7.

Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.05.008DOI Listing
September 2014

Globular adiponectin and its downstream target genes are up-regulated locally in human colorectal tumors: ex vivo and in vitro studies.

Metabolism 2014 May 10;63(5):672-81. Epub 2014 Feb 10.

Department of Clinical Molecular Biology and Laboratory Sciences (EpiGen), Institute for Clinical Medicine, University of Oslo, Norway; Surgical Department, Akershus University Hospital, Lørenskog, Norway; Institute of Health Promotion, Akershus University Hospital, Lørenskog, Norway.

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http://dx.doi.org/10.1016/j.metabol.2014.02.001DOI Listing
May 2014

A dominant STIM1 mutation causes Stormorken syndrome.

Hum Mutat 2014 May 9;35(5):556-64. Epub 2014 Apr 9.

Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1002/humu.22544DOI Listing
May 2014

Global gene expression analysis reveals a link between NDRG1 and vesicle transport.

PLoS One 2014 31;9(1):e87268. Epub 2014 Jan 31.

Department of Medical Genetics, University of Oslo, Oslo, Norway ; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087268PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909102PMC
October 2014

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

PLoS One 2014 22;9(1):e86340. Epub 2014 Jan 22.

Department of Clinical Medicine, University of Bergen, Bergen, Norway ; Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086340PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899233PMC
November 2014

A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.

Eur J Med Genet 2013 Jul 9;56(7):361-4. Epub 2013 May 9.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2013.04.005DOI Listing
July 2013

Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.

Am J Med Genet A 2013 May 5;161A(5):1137-42. Epub 2013 Mar 5.

Faculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway.

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http://doi.wiley.com/10.1002/ajmg.a.35823
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http://dx.doi.org/10.1002/ajmg.a.35823DOI Listing
May 2013

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.

Eur J Med Genet 2012 Dec 30;55(12):695-9. Epub 2012 Aug 30.

Department of Medical Genetics, Institute of Clinical Medicine, University of Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.002DOI Listing
December 2012

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

Eur J Med Genet 2010 Jul-Aug;53(4):221-4. Epub 2010 Apr 9.

Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2010.03.010DOI Listing
October 2010

shRNA expression constructs designed directly from siRNA oligonucleotide sequences.

Mol Biotechnol 2010 Jun;45(2):116-20

Institute of Medical Genetics, Faculty of Medicine, University of Oslo, PO Box 1036, Blindern, 0315 Oslo, Norway.

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http://dx.doi.org/10.1007/s12033-010-9247-8DOI Listing
June 2010

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother.

Am J Med Genet A 2009 Dec;149A(12):2877-81

Faculty of Medicine, Institute of Medical Genetics, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.33106DOI Listing
December 2009

Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells.

BMC Biotechnol 2009 Oct 16;9:88. Epub 2009 Oct 16.

Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1186/1472-6750-9-88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770504PMC
October 2009

Increasing the resolution of the comet assay using fluorescent in situ hybridization--a review.

Mutagenesis 2009 Sep 17;24(5):383-9. Epub 2009 Jun 17.

Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, PB 1046 Blindern, 0316 Oslo, Norway.

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http://dx.doi.org/10.1093/mutage/gep021DOI Listing
September 2009

A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22.

Am J Med Genet A 2009 Feb;149A(2):290-3

Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.32623DOI Listing
February 2009

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.

Am J Med Genet A 2008 Dec;146A(24):3230-3

Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.32582DOI Listing
December 2008

[Structural variation in the human genome contributes to variation of traits].

Tidsskr Nor Laegeforen 2008 Sep;128(17):1951-5

Avdeling for medisinsk genetikk, Ullevål universitetssykehus, Oslo.

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September 2008

A retroviral vector for siRNA expression in mammalian cells.

Mol Biotechnol 2007 Mar;35(3):275-82

Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1007/BF02686013DOI Listing
March 2007

A map of nuclear matrix attachment regions within the breast cancer loss-of-heterozygosity region on human chromosome 16q22.1.

Genomics 2007 Mar 22;89(3):354-61. Epub 2006 Dec 22.

Department of Nutrition, Faculty of Medicine, University of Oslo, PB 1046 Blindern, 0316 Oslo, Norway.

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http://dx.doi.org/10.1016/j.ygeno.2006.11.003DOI Listing
March 2007

siRNA: a potential tool for future breast cancer therapy?

Crit Rev Oncog 2006 Jul;12(1-2):127-50

Institute of Medical Genetics, University of Oslo, Norway.

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http://dx.doi.org/10.1615/critrevoncog.v12.i1-2.70DOI Listing
July 2006

A highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects.

BMC Genomics 2005 Apr 4;6:50. Epub 2005 Apr 4.

Department of Basic Sciences and Aquatic Medicine, Section of Genetics, Norwegian School of Veterinary Science, P.O box 8146 Dep, N-0033 Oslo, Norway.

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http://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2164-6-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1082906PMC
April 2005

Alternative transcripts of the candidate tumor suppressor gene, WWOX, are expressed at high levels in human breast tumors.

Oncogene 2002 Mar;21(12):1832-40

INSERM E 0017/Oncogénétique, Centre René Huguenin, 35 rue Dailly, F-92211 St-Cloud, France.

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http://dx.doi.org/10.1038/sj.onc.1205273DOI Listing
March 2002