Michael B Petersen

Michael B Petersen

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Michael B Petersen

Michael B Petersen

Publications by authors named "Michael B Petersen"

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Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene.

Neonatology 2019 Jul 26:1-5. Epub 2019 Jul 26.

Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark.

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http://dx.doi.org/10.1159/000499488DOI Listing
July 2019

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.

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http://dx.doi.org/10.1002/ajmg.a.40638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587983PMC
December 2018

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.

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https://www.karger.com/Article/FullText/452258
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http://dx.doi.org/10.1159/000452258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260604PMC
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.

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http://dx.doi.org/10.1159/000441047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662274PMC
October 2015

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 .

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http://dx.doi.org/10.3109/10408363.2014.968703DOI Listing
February 2015

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.

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http://dx.doi.org/10.1186/s13039-014-0092-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265435PMC
December 2014

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.

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http://dx.doi.org/10.1016/j.mgene.2014.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287824PMC
December 2014

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.

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http://dx.doi.org/10.1002/ajmg.a.36652DOI Listing
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.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
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.

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https://www.degruyter.com/view/j/cclm.2012.50.issue-12/cclm-
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http://dx.doi.org/10.1515/cclm-2012-0048DOI Listing
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.

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http://dx.doi.org/10.1016/j.ijporl.2012.03.007DOI Listing
July 2012

Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3.

Eur J Dermatol 2012 Mar-Apr;22(2):182-6

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

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http://dx.doi.org/10.1684/ejd.2011.1617DOI Listing
June 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.

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http://linkinghub.elsevier.com/retrieve/pii/S016558761200044
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http://dx.doi.org/10.1016/j.ijporl.2012.01.014DOI Listing
April 2012

A novel PIKFYVE mutation in fleck corneal dystrophy.

Mol Vis 2011 25;17:2776-81. Epub 2011 Oct 25.

Department of Ophthalmology, General Hospital of Nafplio, Greece.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209427PMC
February 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.

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http://dx.doi.org/10.3233/DMA-2011-0786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825241PMC
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.

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https://www.rcophth.ac.uk/wp-content/uploads/2014/12/2013-SC
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http://www.degruyter.com/view/j/cclm.2011.49.issue-4/cclm.20
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http://dx.doi.org/10.1515/CCLM.2011.091DOI Listing
April 2011

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.

Int J Pediatr Otorhinolaryngol 2011 Jan 5;75(1):89-94. Epub 2010 Nov 5.

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

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http://dx.doi.org/10.1016/j.ijporl.2010.10.016DOI Listing
January 2011

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

J Hum Genet 2010 May 19;55(5):265-9. Epub 2010 Mar 19.

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

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http://www.nature.com/articles/jhg201023
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http://dx.doi.org/10.1038/jhg.2010.23DOI Listing
May 2010

Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population.

Genet Test Mol Biomarkers 2010 Apr;14(2):189-92

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

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http://dx.doi.org/10.1089/gtmb.2009.0136DOI Listing
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.

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http://dx.doi.org/10.1089/gtmb.2009.0146DOI Listing
April 2010

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.

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http://link.springer.com/10.1007/s11626-010-9305-3
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http://dx.doi.org/10.1007/s11626-010-9305-3DOI Listing
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.

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http://dx.doi.org/10.1016/j.bbrc.2009.10.044DOI Listing
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.

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http://dx.doi.org/10.1186/gm21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664954PMC
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.

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http://dx.doi.org/10.1016/j.ijporl.2008.08.006DOI Listing
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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2358920PMC
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.

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

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http://dx.doi.org/10.1016/j.ijporl.2005.08.012DOI Listing
April 2006

Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.

Prenat Diagn 2006 Mar;26(3):258-61

Department of Genetics and Molecular Biology, Mitera Maternity and Surgical Center, Athens, Greece.

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http://dx.doi.org/10.1002/pd.1392DOI Listing
March 2006

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.

Hum Mutat 2005 Jun;25(6):543-9

Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/humu.20172DOI Listing
June 2005

3C syndrome with cryptorchidism and posterior embryotoxon.

Clin Dysmorphol 2005 Apr;14(2):97-100

Department of Pediatrics, University of Crete, Heraklion, Crete, Greece.

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April 2005

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.

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http://doi.wiley.com/10.1002/humu.20157
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http://dx.doi.org/10.1002/humu.20157DOI Listing
April 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.

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http://dx.doi.org/10.1159/000080160DOI Listing
February 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

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.

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http://dx.doi.org/10.1002/ajmg.a.30026DOI Listing
June 2004

Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy.

Am J Med Genet A 2003 Feb;116A(4):356-9

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1002/ajmg.a.10050DOI Listing
February 2003

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC107843PMC
April 2002