Publications by authors named "Michael B Petersen"

86Publications

First reported adult patient with TARP syndrome: A case report.

Am J Med Genet A 2018 12 21;176(12):2915-2918. Epub 2018 Nov 21.

Research and Knowledge Center in Sensory Genetics, Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.

View Article and Find Full Text PDF
December 2018

Investigation of associations of , , and gene polymorphisms with wet age-related macular degeneration in a Greek population.

Clin Ophthalmol 2017 26;11:1347-1358. Epub 2017 Jul 26.

1st Department of Ophthalmology, "G. Gennimatas" General Hospital, Medical School, National and Kapodistrian University of Athens, Athens.

View Article and Find Full Text PDF
July 2017

De novo Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.

Mol Syndromol 2017 Jan 5;8(1):24-29. Epub 2016 Nov 5.

Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.

View Article and Find Full Text PDF
January 2017

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.

Mol Syndromol 2015 Oct 29;6(4):181-6. Epub 2015 Sep 29.

Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark ; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.

View Article and Find Full Text PDF
October 2015

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features.

Meta Gene 2014 Dec 15;2:274-82. Epub 2014 Apr 15.

Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece ; Cattedra di Genetica Medica, Ospedale Binaghi, Cagliari, Italy.

View Article and Find Full Text PDF
December 2014

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.

Mol Cytogenet 2014 3;7(1):92. Epub 2014 Dec 3.

Eurogenetica S.A., Laboratory of Genetics, Michalakopoulou 125& Vervainon 14, 11527 Athens, Thessaloniki Greece ; Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy.

View Article and Find Full Text PDF
December 2014

Oxidative stress in dry age-related macular degeneration and exfoliation syndrome.

Crit Rev Clin Lab Sci 2015 Feb 16;52(1):12-27. Epub 2014 Oct 16.

Department of Ophthalmology, University Hospital of Ioannina , Ioannina , Greece .

View Article and Find Full Text PDF
February 2015

Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature.

Am J Med Genet A 2014 Sep 26;164A(9):2276-86. Epub 2014 Jun 26.

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

View Article and Find Full Text PDF
September 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

View Article and Find Full Text PDF
June 2014

Biomarkers in primary open angle glaucoma.

Clin Chem Lab Med 2012 Dec;50(12):2107-19

Department of Genetics, Institute of Child Health , Aghia Sophia Children's Hospital, Athens, Greece.

View Article and Find Full Text PDF
December 2012

The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.

Int J Pediatr Otorhinolaryngol 2012 Jul 6;76(7):969-71. Epub 2012 Apr 6.

Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens 11527, Greece.

View Article and Find Full Text PDF
July 2012

Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness.

Int J Pediatr Otorhinolaryngol 2012 Apr 8;76(4):549-51. Epub 2012 Feb 8.

Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.

View Article and Find Full Text PDF
April 2012

Detection of deafness-causing mutations in the Greek mitochondrial genome.

Dis Markers 2011 ;30(6):283-9

Department of Genetics, Institute of Child Health, 'Aghia Sophia' Children's Hospital, Athens, Greece.

View Article and Find Full Text PDF
October 2011

Age-related macular degeneration: genetic and clinical findings.

Clin Chem Lab Med 2011 Apr 23;49(4):601-16. Epub 2010 Dec 23.

Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.

View Article and Find Full Text PDF
April 2011

The effect of human embryonic stem cells (hESCs) long-term normoxic and hypoxic cultures on the maintenance of pluripotency.

In Vitro Cell Dev Biol Anim 2010 Apr 23;46(3-4):276-83. Epub 2010 Feb 23.

Laboratory for Stem Cell Research, Aalborg University, Fredrik Bajers Vej 3B, 9220 Aalborg, Denmark.

View Article and Find Full Text PDF
April 2010

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

Genet Test Mol Biomarkers 2010 Apr;14(2):183-7

Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.

View Article and Find Full Text PDF
April 2010

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss.

Biochem Biophys Res Commun 2009 Dec 14;390(3):755-7. Epub 2009 Oct 14.

Department of Genetics, Institute of Child Health, 'Aghia Sophia' Children's Hospital, Athens 11527, Greece.

View Article and Find Full Text PDF
December 2009

Copy number variation and genomic alterations in health and disease.

Genome Med 2009 Feb 20;1(2):21. Epub 2009 Feb 20.

Faculty of Medicine and Health Sciences, Medical Genetics Center Department of Cell Biology and Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.

View Article and Find Full Text PDF
February 2009

Sudden hearing loss in a family with GJB2 related progressive deafness.

Int J Pediatr Otorhinolaryngol 2008 Nov 21;72(11):1735-40. Epub 2008 Sep 21.

Department of Genetics, Institute of Child Health, 'Aghia Sophia' Children's Hospital, Thivon & Levadias, 115 27 Athens, Greece.

View Article and Find Full Text PDF
November 2008

Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.

Mol Vis 2008 Apr 25;14:774-81. Epub 2008 Apr 25.

Casey Eye Institute, Department of Ophthalmology, Oregon Health & Sciences University, Portland, OR, USA.

View Article and Find Full Text PDF
April 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.

View Article and Find Full Text PDF
August 2007

Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.

Int J Pediatr Otorhinolaryngol 2006 Apr 15;70(4):631-7. Epub 2005 Sep 15.

Audiology Unit, Department of Otorhinolaryngology, Aristotle University of Thessaloniki, AHEPA Hospital, GR-54006 Thessaloniki, Greece.

View Article and Find Full Text PDF
April 2006

Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population.

Hum Mutat 2005 Apr;25(4):327-33

Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC-Department of Cell Biology and Genetics, Rotterdam, The Netherlands.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
January 2005

Prenatal diagnosis of trisomy 2 mosaicism: a case report.

Fetal Diagn Ther 2004 Nov-Dec;19(6):488-90

Department of Obstetrics and Gynecology, University of Crete, Heraklion, Greece.

View Article and Find Full Text PDF
February 2005

DNA studies of mono- and pseudodicentric isochromosomes 18q.

Am J Med Genet A 2004 Jun;127A(3):230-3

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

View Article and Find Full Text PDF
June 2004

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

BMC Genet 2002 Apr 19;3. Epub 2002 Apr 19.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, IMBG, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

View Article and Find Full Text PDF
April 2002