Jens Michael Hertz

Jens Michael Hertz

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Jens Michael Hertz

Jens Michael Hertz

Publications by authors named "Jens Michael Hertz"

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63Publications

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Familial multiple sclerosis patients have a shorter delay in diagnosis than sporadic cases.

Mult Scler Relat Disord 2019 Jul 13;32:97-102. Epub 2019 Apr 13.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S22110348193017
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http://dx.doi.org/10.1016/j.msard.2019.04.012DOI Listing
July 2019

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.

BMC Neurol 2019 Apr 12;19(1):60. Epub 2019 Apr 12.

Department of Clinical Genetics, Odense University Hospital, J. B. Winsløvs Vej 4, DK-5000, Odense, Denmark.

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http://dx.doi.org/10.1186/s12883-019-1292-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460731PMC
April 2019

Distribution of disease courses in familial vs sporadic multiple sclerosis.

Acta Neurol Scand 2019 Mar 3;139(3):231-237. Epub 2018 Dec 3.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

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http://doi.wiley.com/10.1111/ane.13044
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http://dx.doi.org/10.1111/ane.13044DOI Listing
March 2019

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

Neurogenetics 2018 08 12;19(3):145-149. Epub 2018 May 12.

Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark.

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http://link.springer.com/10.1007/s10048-018-0547-7
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http://dx.doi.org/10.1007/s10048-018-0547-7DOI Listing
August 2018

Hereditary spastic paraplegia type 8: Neuropathological findings.

Brain Pathol 2018 03;28(2):292-294

Department of Pathology, Odense University Hospital, Odense, Denmark.

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http://dx.doi.org/10.1111/bpa.12494DOI Listing
March 2018

Ichthyosis with Confetti Inherited from a Mosaic Father.

Acta Derm Venereol 2018 01;98(1):130-131

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark.

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http://dx.doi.org/10.2340/00015555-2776DOI Listing
January 2018

DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency.

J Neurol Sci 2017 08 7;379:217-218. Epub 2017 Jun 7.

Odense University Hospital, Dept. of Clinical Genetics, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.06.005DOI Listing
August 2017

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Biochim Biophys Acta Mol Basis Dis 2017 03 24;1863(3):721-730. Epub 2016 Dec 24.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2016.12.010DOI Listing
March 2017

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome.

Brain Behav 2017 03 9;7(3):e00645. Epub 2017 Feb 9.

Department of Endocrinology and Internal Medicine (MEA) Aarhus University Hospital Aarhus Denmark; Department of Molecular Medicine Aarhus University Hospital Aarhus Denmark.

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http://doi.wiley.com/10.1002/brb3.645
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http://dx.doi.org/10.1002/brb3.645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346527PMC
March 2017

Moebius sequence -a multidisciplinary clinical approach.

Orphanet J Rare Dis 2017 01 6;12(1). Epub 2017 Jan 6.

Center for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1186/s13023-016-0559-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217236PMC
January 2017

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation.

Neuroimage Clin 2016 11;11:239-251. Epub 2016 Feb 11.

Department of Endocrinology and Internal Medicine (MEA), Aarhus University Hospital, 8000 Aarhus C, Denmark; Department of Molecular Medicine, Aarhus University Hospital, 8200 Aarhus N, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S22131582163002
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http://dx.doi.org/10.1016/j.nicl.2016.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773384PMC
December 2016

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.

Res Dev Disabil 2016 Sep;56:177-82

Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Denmark.

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http://dx.doi.org/10.1016/j.ridd.2016.06.002DOI Listing
September 2016

Newborn with severe epidermolysis bullosa: to treat or not to treat?

BMJ Case Rep 2016 Apr 26;2016. Epub 2016 Apr 26.

Neonatal Intensive Care Unit, HC Andersen Child Hospital, Odense, Denmark.

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http://dx.doi.org/10.1136/bcr-2016-214727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854150PMC
April 2016

Clinical utility gene card for: Alport syndrome - update 2014.

Eur J Hum Genet 2015 Sep 12;23(9). Epub 2014 Nov 12.

Department of Clinical Genetics, Guy's Hospital, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538213PMC
September 2015

[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

Ugeskr Laeger 2015 Aug;177(32):V12140755

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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August 2015

[A patient diagnosed herself with erythropoietic protoporphyria after googling photosensitivity].

Ugeskr Laeger 2015 Jul;177(30)

Afdeling for Klinisk Biokemi og Farmakologi, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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July 2015

Anthropometry in Klinefelter syndrome--multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism.

J Clin Endocrinol Metab 2015 Mar 16;100(3):E508-17. Epub 2014 Dec 16.

Department of Endocrinology and Internal Medicine (MEA) (S.C., A.S., C.T., C.H.G.), Section of Neonatal Screening and Hormones, Department of Clinical Biochemistry (A.C., D.M.H.), Immunology and Genetics, Statens Serum Institute, Center of Functionally Integrative Neuroscience (M.W.), Centre for Rare Diseases, Department of Pediatrics (J.R.Ø.), Department of Psychology and Behavioral Sciences (A.D.P.), Center for Semiotics (M.W.), Aarhus University Hospital, 8000 Aarhus C, Denmark; Department of Clinical Genetics (A.B.), Vejle Hospital, Sygehus Lillebaelt, 7100 Vejle, Denmark; Department of Clinical Genetics (J.M.H.), Odense University Hospital, 5000 Odense, Denmark; Vejleford Rehabilitation Center (A.D.P.), 7140 Stouby, Denmark; and Department of Molecular Medicine (C.H.G.), Aarhus University Hospital, 8200 Aarhus N, Denmark.

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http://dx.doi.org/10.1210/jc.2014-2834DOI Listing
March 2015

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Hum Mol Genet 2014 Dec 1;23(23):6163-76. Epub 2014 Jul 1.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen N DK-2200, Denmark,

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http://dx.doi.org/10.1093/hmg/ddu337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222360PMC
December 2014

[In Process Citation].

Ugeskr Laeger 2014 Nov;176(46)

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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November 2014

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

Acta Derm Venereol 2014 09;94(5):531-3

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark.

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http://dx.doi.org/10.2340/00015555-1799DOI Listing
September 2014

Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations.

Res Dev Disabil 2014 Jul 19;35(7):1742-7. Epub 2014 Mar 19.

Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, Denmark.

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http://dx.doi.org/10.1016/j.ridd.2014.02.018DOI Listing
July 2014

[New classification and genetic background of inherited ichthyoses].

Ugeskr Laeger 2014 Jul;176(29):V11130688

Hudafdeling I og Allergicentret, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C. E-mail:

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July 2014

Manifestations of Gorlin-Goltz syndrome.

Dan Med J 2014 May;61(5):A4829

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May 2014

[Strategies for diagnosis and biochemical control of porphyrias].

Ugeskr Laeger 2014 Feb;176(8A):V06130413

Skagbanke 44, 9990 Skagen.

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February 2014

Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis.

Am J Med Genet A 2013 Sep 2;161A(9):2197-203. Epub 2013 Aug 2.

Department of Pediatrics, Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.36058
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http://dx.doi.org/10.1002/ajmg.a.36058DOI Listing
September 2013

[Genome sequencing--clinical use].

Ugeskr Laeger 2013 Mar;175(12):818

Dansk Selskab for Medicinsk Genetik, Denmark.

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March 2013

Clinical utility gene card for: Alport syndrome.

Eur J Hum Genet 2012 Jun 14;20(6). Epub 2011 Dec 14.

Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000 Odense C, Denmark.

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http://www.nature.com/articles/ejhg2011237
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http://dx.doi.org/10.1038/ejhg.2011.237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355248PMC
June 2012

Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.

Scand J Urol Nephrol 2010 Nov 12;44(5):324-30. Epub 2010 May 12.

Department of Human Genetics, Aarhus University, Aarhus University Hospital, Aarhus N, Denmark.

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http://dx.doi.org/10.3109/00365599.2010.482946DOI Listing
November 2010

Alport syndrome. Molecular genetic aspects.

Dan Med Bull 2009 Aug;56(3):105-52

Department of Clinical Genetics, Aarhus University Hospital, and Faculty of Health Sciences, Aarhus University, Denmark.

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August 2009

Pallister-Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p.

Am J Med Genet A 2009 Mar;149A(3):510-4

Department of Clinical Genetics, Aarhus University Hospital, Aarhus C, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.32681DOI Listing
March 2009

[Prenatal diagnostics in Arhus and Viborg Counties after implementation of first trimester risk assessment].

Ugeskr Laeger 2008 Jan;170(1):50-4

Arhus Universitetshospital, Skejby, Klinisk Biokemisk Afdeling, Arhus N.

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January 2008

Non-disjunction of chromosome 13.

Hum Mol Genet 2007 Aug 21;16(16):2004-10. Epub 2007 Jun 21.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.

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http://dx.doi.org/10.1093/hmg/ddm148DOI Listing
August 2007

Whole saliva in X-linked hypohidrotic ectodermal dysplasia.

Int J Paediatr Dent 2007 May;17(3):155-62

Department of Paediatric Dentistry and Clinical Genetics, School of Dentistry, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1111/j.1365-263X.2006.00812.xDOI Listing
May 2007

Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.

Int J Paediatr Dent 2007 Jan;17(1):10-8

Department of Paediatric Dentistry and Clinical Genetics, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1111/j.1365-263X.2006.00801.xDOI Listing
January 2007

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

Mov Disord 2006 May;21(5):679-82

Department of Medical Genetics, The Panum Institute, University of Copenhagen, and Department of Neurology, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/mds.20773DOI Listing
May 2006

Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.

Hum Genet 2005 Oct 28;118(1):23-8. Epub 2005 Oct 28.

Department of Clinical Genetics, Aarhus University Hospital, DK, 8000, Aarhus C, Denmark.

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http://link.springer.com/10.1007/s00439-005-0013-0
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http://dx.doi.org/10.1007/s00439-005-0013-0DOI Listing
October 2005

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

Neurology 2005 May;64(9):1635-7

Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1212/01.WNL.0000157654.59374.E5DOI Listing
May 2005

[Cerebral palsy--what is the influence of genetic factors?].

Ugeskr Laeger 2005 Apr;167(15):1625-9

Viborg Sygehus, Børneafdelingen.

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April 2005

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases.

Am J Med Genet A 2005 Jan;132A(3):310-3

Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.30474DOI Listing
January 2005

Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain.

Nephrol Dial Transplant 2004 Aug 15;19(8):2030-5. Epub 2004 Jun 15.

Department of Nephrology, Lund University, Sweden.

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http://dx.doi.org/10.1093/ndt/gfh355DOI Listing
August 2004

[Pycnodysostosis--common ancestor of some Danish patients. Examination and diagnosis based on molecular genetics].

Ugeskr Laeger 2002 Feb;164(7):887-90

Institut for Human Genetik, Bartholin Bygningen, Aarhus Universitet, DK-8000 Arhus C.

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February 2002