Michael B Petersen

Michael B Petersen

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Michael B Petersen

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Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.

Authors:
Morten K Herlin Vang Q Le Allan T Højland Anja Ernst Henrik Okkels Astrid C Petersen Michael B Petersen Inge S Pedersen

Hum Reprod 2019 Sep;34(9):1838-1846

Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Reberbansgade 15, 9000 Aalborg, Denmark.

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http://dx.doi.org/10.1093/humrep/dez126DOI Listing
September 2019

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Authors:
Maria Chiara Pelleri Elena Cicchini Michael B Petersen Lisbeth Tranebjaerg Teresa Mattina Pamela Magini Francesca Antonaros Maria Caracausi Lorenza Vitale Chiara Locatelli Marco Seri Pierluigi Strippoli Allison Piovesan Guido Cocchi

Mol Genet Genomic Med 2019 Aug 25;7(8):e797. Epub 2019 Jun 25.

Neonatology Unit, Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Polyclinic, University of Bologna, Bologna (BO), Italy.

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http://dx.doi.org/10.1002/mgg3.797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687668PMC
August 2019

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

Authors:
Ninna Brix Janni Majgaard Jensen Inge Søkilde Pedersen Anja Ernst Simon Frost Pauline Bogaard Michael B Petersen Lars Bender

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

The spectrum of intermediate SCN8A-related epilepsy.

Authors:
Katrine M Johannesen Elena Gardella Alejandra C Encinas Anna-Elina Lehesjoki Tarja Linnankivi Michael B Petersen Ida Charlotte Bay Lund Susanne Blichfeldt Maria J Miranda Deb K Pal Karine Lascelles Peter Procopis Alessandro Orsini Alice Bonuccelli Thea Giacomini Ingo Helbig Christina D Fenger Sanjay M Sisodiya Laura Hernandez-Hernandez Sundararaman Krithika Melissa Rumple Silvia Masnada Marialuisa Valente Cristina Cereda Lucio Giordano Patrizia Accorsi Sarah E Bürki Margherita Mancardi Christian Korff Renzo Guerrini Sarah von Spiczak Dorota Hoffman-Zacharska Tomasz Mazurczak Antonietta Coppola Salvatore Buono Marilena Vecchi Michael F Hammer Costanza Varesio Pierangelo Veggiotti Dennis Lal Tobias Brünger Federico Zara Pasquale Striano Guido Rubboli Rikke S Møller

Epilepsia 2019 May 10;60(5):830-844. Epub 2019 Apr 10.

Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.

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http://dx.doi.org/10.1111/epi.14705DOI Listing
May 2019

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

Authors:
Allan T Højland Ihab Lolas Henrik Okkels Charlotte K Lautrup Birgitte R Diness Michael B Petersen Irene K Nielsen

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

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Authors:
Viorica Chelban Sarah Wiethoff Bjørn K Fabian-Jessing Nourelhoda A Haridy Alaa Khan Stephanie Efthymiou Esther B E Becker Emer O'Connor Joshua Hersheson Katrina Newland Allan Thomas Hojland Pernille A Gregersen Suzanne G Lindquist Michael B Petersen Jørgen E Nielsen Michael Nielsen Nicholas W Wood Paola Giunti Henry Houlden

Mov Disord 2018 07 30;33(7):1119-1129. Epub 2018 Mar 30.

Department of Molecular Neuroscience, University College London, Institute of Neurology, London, UK.

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http://doi.wiley.com/10.1002/mds.27334
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http://dx.doi.org/10.1002/mds.27334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175136PMC
July 2018

Ocular albinism with infertility and late-onset sensorineural hearing loss.

Authors:
Bjørn K Fabian-Jessing Else Marie Vestergaard Astrid S Plomp Arthur A Bergen Wouter A Dreschler Morten Duno Beata S Winiarska Linda Neumann Michael Gaihede Henrik Vorum Michael B Petersen

Am J Med Genet A 2018 07;176(7):1587-1593

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

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http://doi.wiley.com/10.1002/ajmg.a.38836
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http://dx.doi.org/10.1002/ajmg.a.38836DOI Listing
July 2018

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

Authors:
Antonia Sarli Iosif Skalidakis Aliki Velissari Chryssanthi Koutsandrea Maria Stefaniotou Michael B Petersen Christos Kroupis George Kitsos Marilita M Moschos

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.

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https://www.dovepress.com/investigation-of-associations-of-a
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http://dx.doi.org/10.2147/OPTH.S134538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538696PMC
July 2017

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

Authors:
Malene Lundsgaard Vang Q Le Anja Ernst Hans C Laugaard-Jacobsen Kirsten Rasmussen Inge S Pedersen Michael B Petersen

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

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.

Authors:
Thomas Bjørsum-Meyer Morten Herlin Niels Qvist Michael B Petersen

J Med Case Rep 2016 Dec 21;10(1):374. Epub 2016 Dec 21.

Department of Clinical Genetics, Aalborg University Hospital, Ladegårdsgade 5, Aalborg, 9000, Denmark.

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http://dx.doi.org/10.1186/s13256-016-1127-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5178070PMC
December 2016

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

Authors:
Anja Ernst Vang Q Le Allan T Højland Inge S Pedersen Tine H Sørensen Lise L Bjerregaard Troels J B Lyngbye Ninna M Gammelager Henrik Krarup Michael B Petersen

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

Novel association of FCGR2A polymorphism with age-related macular degeneration (AMD) and development of a novel CFH real-time genotyping method.

Authors:
Aliki Velissari Iosif Skalidakis Samantha C Oliveira Chryssanthi Koutsandrea George Kitsos Michael B Petersen Christos Kroupis

Clin Chem Lab Med 2015 Sep;53(10):1521-9

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https://www.degruyter.com/view/j/cclm.2015.53.issue-10/cclm-
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http://dx.doi.org/10.1515/cclm-2014-0920DOI Listing
September 2015

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.

Authors:
Catherine Sarri Sofia Douzgou Haris Kontos Katherine Anagnostopoulou Zeynep Tümer Maria Grigoriadou Michael B Petersen Haris Kokotas Konstantina Merou Efi Pandelia Elena Giouroukou Katerina Papanikolaou Gilbert B Côté Yolanda Gyftodimou

Cytogenet Genome Res 2015 14;145(1):6-13. Epub 2015 May 14.

Department of Genetics, Institute of Child Health, Athens, Greece.

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http://dx.doi.org/10.1159/000382046DOI Listing
September 2015

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

Authors:
Dimitrios Chiras George Kitsos Michael B Petersen Iosif Skalidakis Christos Kroupis

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.

Authors:
Magdalini Lagou Ioannis Papoulidis Sandro Orru Vasileios Papadopoulos George Daskalakis Maria Kontodiou Eleftherios Anastasakis Michael B Petersen George Kitsos Loretta Thomaidis Emmanouil Manolakos

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.

Authors:
Konstantinos Varvagiannis Ioannis Papoulidis Theodora Koromila Konstantinos Kefalas Monika Ziegler Thomas Liehr Michael B Petersen Yolanda Gyftodimou Emmanouil Manolakos

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.

Authors:
Morten Herlin Allan T Højland Michael B Petersen

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.

Authors:
Frank J Kaiser Morad Ansari Diana Braunholz María Concepción Gil-Rodríguez Christophe Decroos Jonathan J Wilde Christopher T Fincher Maninder Kaur Masashige Bando David J Amor Paldeep S Atwal Melanie Bahlo Christine M Bowman Jacquelyn J Bradley Han G Brunner Dinah Clark Miguel Del Campo Nataliya Di Donato Peter Diakumis Holly Dubbs David A Dyment Juliane Eckhold Sarah Ernst Jose C Ferreira Lauren J Francey Ulrike Gehlken Encarna Guillén-Navarro Yolanda Gyftodimou Bryan D Hall Raoul Hennekam Louanne Hudgins Melanie Hullings Jennifer M Hunter Helger Yntema A Micheil Innes Antonie D Kline Zita Krumina Hane Lee Kathleen Leppig Sally Ann Lynch Mark B Mallozzi Linda Mannini Shane McKee Sarju G Mehta Ieva Micule Shehla Mohammed Ellen Moran Geert R Mortier Joe-Ann S Moser Sarah E Noon Naohito Nozaki Luis Nunes John G Pappas Lynette S Penney Antonio Pérez-Aytés Michael B Petersen Beatriz Puisac Nicole Revencu Elizabeth Roeder Sulagna Saitta Angela E Scheuerle Karen L Schindeler Victoria M Siu Zornitza Stark Samuel P Strom Heidi Thiese Inga Vater Patrick Willems Kathleen Williamson Louise C Wilson Hakon Hakonarson Fabiola Quintero-Rivera Jolanta Wierzba Antonio Musio Gabriele Gillessen-Kaesbach Feliciano J Ramos Laird G Jackson Katsuhiko Shirahige Juan Pié David W Christianson Ian D Krantz David R Fitzpatrick Matthew A Deardorff

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

Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population.

Authors:
Dimitrios Chiras Konstantina Tzika Haris Kokotas Samantha C Oliveira Maria Grigoriadou Anastasia Kastania Kleanthi Dima Maria Stefaniotou Miltiadis Aspiotis Michael B Petersen Christos Kroupis George Kitsos

Mol Vis 2013 6;19:1006-16. Epub 2013 May 6.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654845PMC
September 2013

SLITRK6 mutations cause myopia and deafness in humans and mice.

Authors:
Mustafa Tekin Barry A Chioza Yoshifumi Matsumoto Oscar Diaz-Horta Harold E Cross Duygu Duman Haris Kokotas Heather L Moore-Barton Kazuto Sakoori Maya Ota Yuri S Odaka Joseph Foster F Basak Cengiz Suna Tokgoz-Yilmaz Oya Tekeli Maria Grigoriadou Michael B Petersen Ajith Sreekantan-Nair Kay Gurtz Xia-Juan Xia Arti Pandya Michael A Patton Juan I Young Jun Aruga Andrew H Crosby

J Clin Invest 2013 May 1;123(5):2094-102. Epub 2013 Apr 1.

John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.

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http://dx.doi.org/10.1172/JCI65853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3635725PMC
May 2013

Pure de novo partial trisomy 6p in a girl with craniosynostosis.

Authors:
Konstantinos Varvagiannis Amalia Stefanidou Yolanda Gyftodimou Helen Lord Louise Williams Catherine Sarri Efi Pandelia Euterpe Bazopoulou-Kyrkanidou Charlotte Noakes Tracy Lester Andrew O M Wilkie Michael B Petersen

Am J Med Genet A 2013 Feb 10;161A(2):343-51. Epub 2013 Jan 10.

Department of Genetics, Institute of Child Health, Athens, Greece.

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http://dx.doi.org/10.1002/ajmg.a.35727DOI Listing
February 2013

Biomarkers in primary open angle glaucoma.

Authors:
Haris Kokotas Christos Kroupis Dimitrios Chiras Maria Grigoriadou Klea Lamnissou Michael B Petersen George Kitsos

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

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

Authors:
Matthew A Deardorff Masashige Bando Ryuichiro Nakato Erwan Watrin Takehiko Itoh Masashi Minamino Katsuya Saitoh Makiko Komata Yuki Katou Dinah Clark Kathryn E Cole Elfride De Baere Christophe Decroos Nataliya Di Donato Sarah Ernst Lauren J Francey Yolanda Gyftodimou Kyotaro Hirashima Melanie Hullings Yuuichi Ishikawa Christian Jaulin Maninder Kaur Tohru Kiyono Patrick M Lombardi Laura Magnaghi-Jaulin Geert R Mortier Naohito Nozaki Michael B Petersen Hiroyuki Seimiya Victoria M Siu Yutaka Suzuki Kentaro Takagaki Jonathan J Wilde Patrick J Willems Claude Prigent Gabriele Gillessen-Kaesbach David W Christianson Frank J Kaiser Laird G Jackson Toru Hirota Ian D Krantz Katsuhiko Shirahige

Nature 2012 Sep;489(7415):313-7

Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/nature11316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443318PMC
September 2012

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

Authors:
Michael B Petersen Maria Grigoriadou Maria Koutroumpe Haris Kokotas

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

A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH.

Authors:
Maria Bucksch Monika Ziegler Nadezda Kosayakova Milene V Mulatinho Milene V Mulhatino Juan C Llerena Susanne Morlot Wolfgang Fischer Anna D Polityko Anna I Kulpanovich Michael B Petersen Britta Belitz Vladimir Trifonov Anja Weise Thomas Liehr Ahmed B Hamid

J Histochem Cytochem 2012 Jul 17;60(7):530-6. Epub 2012 Apr 17.

Institute of Human Genetics, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1369/0022155412441708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460354PMC
July 2012

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

Authors:
Haris Kokotas Konstantina Papagiannaki Maria Grigoriadou Michael B Petersen Alexandra Katsarou

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.

Authors:
Michael B Petersen Maria Grigoriadou John Economides Haris Kokotas

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

Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature.

Authors:
Emmanouil Manolakos Stavros Sifakis Sotirios Sotiriou Panagiotis Peitsidis Makarios Eleftheriades Vassilis Mersinias Thomas Liehr Loretta Thomaidis George Kitsos Ioannis Papoulidis Michael B Petersen Sandro Orru

Clin Dysmorphol 2012 Apr;21(2):101-5

Laboratory of Cytogenetics Eurogenetica, 'Helena Venizelou' Hospital, Athens, Greece.

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http://pdfs.journals.lww.com/clindysmorphol/2012/04000/Prena
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0b013e32834e9279DOI Listing
April 2012

Unexpected results in the constitution of small supernumerary marker chromosomes.

Authors:
Annalisa Vetro Emmanouil Manolakos Michael B Petersen Loretta Thomaidis Thomas Liehr Gianfranco Croci Fabrizia Franchi Maria Marinelli Emanuela Meneghelli Babara Dal Bello Stefania Cesari Angela Iasci Giulia Arrigo Orsetta Zuffardi

Eur J Med Genet 2012 Mar 28;55(3):185-90. Epub 2012 Jan 28.

Medical Genetics, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.010DOI Listing
March 2012

A novel PIKFYVE mutation in fleck corneal dystrophy.

Authors:
Andreas Kotoulas Haris Kokotas Konstantinos Kopsidas Konstantinos Droutsas Maria Grigoriadou Hasret Bajrami Daniel F Schorderet Michael B Petersen

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

Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.

Authors:
Catherine Sarri Sofia Douzgou Yolanda Gyftodimou Zeynep Tümer Kirstine Ravn Angela Pasparaki Theologia Sarafidou Harry Kontos Haris Kokotas Georgia Karadima Maria Grigoriadou Effie Pandelia Virginia Theodorou Nicholas K Moschonas Michael B Petersen

Am J Med Genet A 2011 Nov 30;155A(11):2841-54. Epub 2011 Sep 30.

Department of Genetics, Institute of Child Health, Athens, Greece.

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http://dx.doi.org/10.1002/ajmg.a.34259DOI Listing
November 2011

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

Authors:
Haris Kokotas Maria Grigoriadou George S Korres Elisabeth Ferekidou Dimitrios Kandiloros Stavros Korres Michael B Petersen

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

Antenatal diagnosis of duodenal atresia in dizygotic twins associated with congenital hearing impairment.

Authors:
Stavros Sifakis Ourania Koukoura Nikitas Mantas Eleftheria Papadopoulou Maria Grigoriadou Jiannis Hajiioannou George Vlahakis Michael B Petersen

J Matern Fetal Neonatal Med 2011 Jun 13;24(6):871-2. Epub 2011 Jan 13.

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http://www.tandfonline.com/doi/full/10.3109/14767058.2010.54
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http://dx.doi.org/10.3109/14767058.2010.545902DOI Listing
June 2011

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.

Authors:
Emmanouil Manolakos Annalisa Vetro Konstantinos Kefalas Loretta Thomaidis Georgios Aperis Sotirios Sotiriou George Kitsos Martina Merkas Stavros Sifakis Ioannis Papoulidis Thomas Liehr Orsetta Zuffardi Michael B Petersen

Am J Med Genet A 2011 Jun 12;155A(6):1476-82. Epub 2011 May 12.

Bioiatriki S.A., Laboratory of Genetics, Athens, Greece.

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http://dx.doi.org/10.1002/ajmg.a.33981DOI Listing
June 2011

Age-related macular degeneration: genetic and clinical findings.

Authors:
Haris Kokotas Maria Grigoriadou Michael B Petersen

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

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.

Authors:
Emmanouil Manolakos Catherine Sarri Annalisa Vetro Konstantinos Kefalas Eleni Leze Christalena Sofocleus George Kitsos Konstantina Merou Haris Kokotas Anna Papadopoulou Achilleas Attilakos Michael B Petersen Sofia Kitsiou-Tzeli

Mol Cytogenet 2011 Apr 16;4(1):11. Epub 2011 Apr 16.

Bioiatriki S,A,, Laboratory of Genetics, Athens, Greece.

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http://dx.doi.org/10.1186/1755-8166-4-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083379PMC
April 2011

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.

Authors:
Emmanouil Manolakos Catherine Sarri Annalisa Vetro Konstantinos Kefalas Eleni Leze Christalena Sofocleus George Kitsos Konstantina Merou Haris Kokotas Anna Papadopoulou Achilleas Attilakos Michael B Petersen Sofia Kitsiou-Tzeli

Mol Cytogenet 2011 Feb 23;4(1). Epub 2011 Feb 23.

Bioiatriki S,A,, Laboratory of Genetics, Athens, Greece.

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http://dx.doi.org/10.1186/1755-8166-4-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058102PMC
February 2011

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

Authors:
Haris Kokotas Maria Grigoriadou Li Yang Marianne Lodahl Nanna Dahl Rendtorff Yolanda Gyftodimou George S Korres Elisabeth Ferekidou Dimitrios Kandiloros Stavros Korres Lisbeth Tranebjærg Min-Xin Guan Michael B Petersen

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

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.

Authors:
George P Patrinos Jumana Al Aama Aida Al Aqeel Fahd Al-Mulla Joseph Borg Andrew Devereux Alex E Felice Finlay Macrae Makia J Marafie Michael B Petersen Ming Qi Rajkumar S Ramesar Joel Zlotogora Richard G H Cotton

Hum Mutat 2011 Jan;32(1):2-9

University of Patras, Department of Pharmacy, Greece.

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http://dx.doi.org/10.1002/humu.21397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058135PMC
January 2011

The use of array-CGH in a cohort of Greek children with developmental delay.

Authors:
Emmanouil Manolakos Annalisa Vetro Konstantinos Kefalas Stamatia-Maria Rapti Eirini Louizou Antonios Garas George Kitsos Lefteris Vasileiadis Panagiota Tsoplou Makarios Eleftheriades Panagiotis Peitsidis Sandro Orru Thomas Liehr Michael B Petersen Loretta Thomaidis

Mol Cytogenet 2010 Nov 9;3:22. Epub 2010 Nov 9.

Bioiatriki S,A,, Laboratory of Genetics, Athens, Greece.

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http://dx.doi.org/10.1186/1755-8166-3-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987877PMC
November 2010

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Authors:
Veronica Parri Eleni Katzaki Vera Uliana Francesca Scionti Rossella Tita Rosangela Artuso Ilaria Longo Renske Boschloo Raymon Vijzelaar Angelo Selicorni Francesco Brancati Bruno Dallapiccola Leopoldo Zelante Christian P Hamel Pierre Sarda Seema R Lalani Rita Grasso Sabrina Buoni Joussef Hayek Laurent Servais Bert B A de Vries Nelly Georgoudi Sheena Nakou Michael B Petersen Francesca Mari Alessandra Renieri Francesca Ariani

Eur J Hum Genet 2010 Oct 12;18(10):1133-40. Epub 2010 May 12.

Medical Genetics, University of Siena, Siena, Italy.

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http://www.nature.com/articles/ejhg201059
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http://dx.doi.org/10.1038/ejhg.2010.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987453PMC
October 2010

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.

Authors:
Silvia Naranjo Krysta Voesenek Elisa de la Calle-Mustienes Alex Robert-Moreno Haris Kokotas Maria Grigoriadou John Economides Guy Van Camp Nele Hilgert Felipe Moreno Berta Alsina Michael B Petersen Hannie Kremer José Luis Gómez-Skarmeta

Hum Genet 2010 Oct 29;128(4):411-9. Epub 2010 Jul 29.

Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km1, 41013, Sevilla, Spain.

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http://public-files.prbb.org/publicacions/b289b5a0-fc85-012d
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http://link.springer.com/10.1007/s00439-010-0864-x
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http://dx.doi.org/10.1007/s00439-010-0864-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939330PMC
October 2010

Screening of a Greek deafness population for the A7445G mitochondrial DNA mutation.

Authors:
Haris Kokotas Maria Grigoriadou George S Korres Elisabeth Ferekidou Dimitrios Kandiloros Stavros Korres Michael B Petersen

Mol Genet Metab 2010 Jul 23;100(3):300-1. Epub 2010 Mar 23.

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http://dx.doi.org/10.1016/j.ymgme.2010.03.016DOI Listing
July 2010

A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.

Authors:
Ioannis Papoulidis Emmanouil Manolakos Elisavet Siomou Kostantinos Kefalas Loretta Thomaidis Thomas Liehr Annalisa Vetro Apostolos Athanasiadis Orsetta Zuffardi Michael B Petersen

Prenat Diagn 2010 Jun;30(6):586-8

Eurogenetica S.A., Thessaloniki, Greece. mail:

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http://dx.doi.org/10.1002/pd.2524DOI Listing
June 2010

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

Authors:
Haris Kokotas Maria Grigoriadou George S Korres Elisabeth Ferekidou Aglaia Giannoulia-Karantana Dimitrios Kandiloros Stavros Korres Michael B Petersen

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

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.

Authors:
Asli Sirmaci Seyra Erbek Justin Price Mingqian Huang Duygu Duman F Başak Cengiz Güney Bademci Suna Tokgöz-Yilmaz Burcu Hişmi Hilal Ozdağ Banu Oztürk Sevsen Kulaksizoğlu Erkan Yildirim Haris Kokotas Maria Grigoriadou Michael B Petersen Hashem Shahin Moien Kanaan Mary-Claire King Zheng-Yi Chen Susan H Blanton Xue Z Liu Stephan Zuchner Nejat Akar Mustafa Tekin

Am J Hum Genet 2010 May 6;86(5):797-804. Epub 2010 May 6.

Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869020PMC
May 2010

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

Authors:
Haris Kokotas Maria Grigoriadou Angeliki Hatzaki Thalia Antoniadi Aglaia Giannoulia-Karantana Michael B Petersen

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?

Authors:
Haris Kokotas Maria Grigoriadou Manuela Villamar Aglaia Giannoulia-Karantana Ignacio del Castillo Michael B Petersen

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.

Authors:
Vladimir Zachar Sinha M Prasad Simon C Weli Anette Gabrielsen Karsten Petersen Michael B Petersen Trine Fink

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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April 2010

Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature.

Authors:
Emmanouil Manolakos Panagiotis Peitsidis Makarios Eleftheriades Evaggelos Dedoulis Monika Ziegler Sandro Orru Thomas Liehr Michael B Petersen

J Obstet Gynaecol Res 2010 Apr;36(2):435-40

Vioiatriki SA Molecular Diagnostics Laboratory, Greece.

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http://dx.doi.org/10.1111/j.1447-0756.2009.01140.xDOI Listing
April 2010

Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population.

Authors:
Haris Kokotas Maria Grigoriadou Margareta Mikkelsen Aglaia Giannoulia-Karantana Michael B Petersen

Dis Markers 2009 ;27(6):279-85

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-2009-0673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835277PMC
March 2010

Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.

Authors:
George Kitsos Zacharias Petrou Maria Grigoriadou John R Samples Alex W Hewitt Haris Kokotas Aglaia Giannoulia-Karantana David A Mackey Mary K Wirtz Marilita Moschou John P A Ioannidis Michael B Petersen

Clin Ophthalmol 2010 Mar 24;4:171-8. Epub 2010 Mar 24.

Department of Ophthalmology, University of Ioannina, School of Medicine, Ioannina, Greece.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850831PMC
http://dx.doi.org/10.2147/opth.s8974DOI Listing
March 2010

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

Authors:
Haris Kokotas Maria Grigoriadou George S Korres Elisabeth Ferekidou Eleftheria Papadopoulou Polyxene Neou Aglaia Giannoulia-Karantana Dimitrios Kandiloros Stavros Korres Michael B Petersen

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

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).

Authors:
Emmanouil Manolakos Sandro Orru Rosita Neroutsou Konstantinos Kefalas Eirini Louizou Ioannis Papoulidis Loretta Thomaidis Panagiotis Peitsidis Sotirios Sotiriou George Kitsos Panagiota Tsoplou Michael B Petersen Aikaterini Metaxotou

Mol Cytogenet 2009 Dec 9;2:26. Epub 2009 Dec 9.

Bioiatriki S,A,, Laboratory of Genetics, Athens, Greece.

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http://dx.doi.org/10.1186/1755-8166-2-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799424PMC
December 2009

Genetic skeletal disorders of the fetus and infant: pathologic and molecular findings in a series of 41 cases.

Authors:
Anastasia E Konstantinidou Georgios Agrogiannis Stavros Sifakis Apostolos Karantanas Vassileios Harakoglou Petros Kaminopetros Angeliki Hatzaki Michael B Petersen Charalampos Karadimas Voula Velissariou Stylianos Velonis Nikolaos Papantoniou Aristeidis Antsaklis Efstratios Patsouris

Birth Defects Res A Clin Mol Teratol 2009 Oct;85(10):811-21

Department of Pathology, Medical School, National Kapodistrian University of Athens, Greece.

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http://doi.wiley.com/10.1002/bdra.20617
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October 2009

Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH.

Authors:
Emmanouil Manolakos Annalisa Vetro Stylianos Kitmirides Ioannis Papoulidis Nadezda Kosyakova Kristin Mrasek Anja Weise Emmanouil Agapitos Sandro Orru Panagiotis Peitsidis Thomas Liehr Michael B Petersen

Prenat Diagn 2009 Sep;29(9):884-8

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http://dx.doi.org/10.1002/pd.2295DOI Listing
September 2009

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Authors:
Nele Hilgert Matthew J Huentelman Ashley Q Thorburn Erik Fransen Nele Dieltjens Malgorzata Mueller-Malesinska Agnieszka Pollak Agata Skorka Jaroslaw Waligora Rafal Ploski Pierangela Castorina Paola Primignani Umberto Ambrosetti Alessandra Murgia Eva Orzan Arti Pandya Kathleen Arnos Virginia Norris Pavel Seeman Petr Janousek Delphine Feldmann Sandrine Marlin Françoise Denoyelle Carla J Nishimura Andreas Janecke Doris Nekahm-Heis Alessandro Martini Elena Mennucci Timea Tóth Istvan Sziklai Ignacio Del Castillo Felipe Moreno Michael B Petersen Vasiliki Iliadou Mustafa Tekin Armagan Incesulu Ewa Nowakowska Jerzy Bal Paul Van de Heyning Anne-Françoise Roux Catherine Blanchet Cyril Goizet Guenaëlle Lancelot Graça Fialho Helena Caria Xue Zhong Liu Ouyang Xiaomei Paul Govaerts Karen Grønskov Karianne Hostmark Klemens Frei Ingeborg Dhooge Stephen Vlaeminck Erdmute Kunstmann Lut Van Laer Richard J H Smith Guy Van Camp

Eur J Hum Genet 2009 Apr 5;17(4):517-24. Epub 2008 Nov 5.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://www.nature.com/articles/ejhg2008201
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http://dx.doi.org/10.1038/ejhg.2008.201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883287PMC
April 2009

Copy number variation and genomic alterations in health and disease.

Authors:
George P Patrinos Michael B Petersen

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.

Authors:
Haris Kokotas Maria Theodosiou George Korres Maria Grigoriadou Elisabeth Ferekidou Aglaia Giannoulia-Karantana Michael B Petersen Stavros Korres

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

Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population.

Authors:
Haris Kokotas Lut Van Laer Maria Grigoriadou Vassiliki Iliadou John Economides Stella Pomoni Andreas Pampanos Nikos Eleftheriades Elisabeth Ferekidou Stavros Korres Aglaia Giannoulia-Karantana Guy Van Camp Michael B Petersen

Am J Med Genet A 2008 Nov;146A(22):2879-84

Department of Genetics, Institute of Child Health, Athens, Greece.

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http://dx.doi.org/10.1002/ajmg.a.32546DOI Listing
November 2008

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report.

Authors:
Emmanouil Manolakos Nadezda Kosyakova Loreta Thomaidis Rozita Neroutsou Anja Weise Markos Mihalatos Sandro Orru Haris Kokotas George Kitsos Thomas Liehr Michael B Petersen

Mol Cytogenet 2008 Nov 11;1:24. Epub 2008 Nov 11.

Genomedica SA, Piraeus, Greece.

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http://dx.doi.org/10.1186/1755-8166-1-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587471PMC
November 2008

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

Authors:
Marianna Bugiani Yolanda Gyftodimou Paraskevi Tsimpouka Eleonora Lamantea Eleni Katzaki Pio d'Adamo Sheena Nakou Nelli Georgoudi Maria Grigoriadou Efthymia Tsina Nikolaos Kabolis Donatella Milani Efthimia Pandelia Haris Kokotas Paolo Gasparini Aglaia Giannoulia-Karantana Alessandra Renieri Massimo Zeviani Michael B Petersen

Am J Med Genet A 2008 Sep;146A(17):2221-6

Division of Molecular Neurogenetics, IRCCS Neurological Institute "C. Besta", Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32239DOI Listing
September 2008

Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening.

Authors:
Harry Kontos Emmanouil Manolakos Pantelis Malligiannis Nicolaos Plachouras Nikolaos Ploumis Markos Mihalatos Sandro Orru Ema Anastasiadou Michael B Petersen

Prenat Diagn 2008 Jun;28(6):556-8

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http://doi.wiley.com/10.1002/pd.2020
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June 2008

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.

Authors:
Anastasia Konstantinidou Charalampos Karadimas Hans R Waterham Andrea Superti-Furga Petros Kaminopetros Maria Grigoriadou Haris Kokotas George Agrogiannis Aglaia Giannoulia-Karantana Efstratios Patsouris Michael B Petersen

Prenat Diagn 2008 Apr;28(4):309-12

Department of Pathology, National University of Athens, Greece.

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http://doi.wiley.com/10.1002/pd.1976
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April 2008

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

Authors:
Mary K Wirtz Anastasios G P Konstas John R Samples Kostantinos Kaltsos Athanasios Economou Antonios Dimopoulos Irene Georgiadou Michael B Petersen

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.

Authors:
Merete Bugge Andrew Collins Jens Michael Hertz Hans Eiberg Claes Lundsteen Carsten A Brandt Mads Bak Claus Hansen Celia D Delozier James Lespinasse Lisbeth Tranebjaerg Johanne M D Hahnemann Kirsten Rasmussen Gert Bruun-Petersen Laurence Duprez Niels Tommerup Michael B Petersen

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

Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels.

Authors:
Michael P Whyte Panagiotis N Singhellakis Michael B Petersen Michael Davies William G Totty Steven Mumm

J Bone Miner Res 2007 Jun;22(6):938-46

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA.

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http://dx.doi.org/10.1359/jbmr.070307DOI Listing
June 2007

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

Authors:
Melissa Thys Kris Van Den Bogaert Vassiliki Iliadou Kathleen Vanderstraeten Nele Dieltjens Isabelle Schrauwen Wenjie Chen Nikolaos Eleftheriades Maria Grigoriadou Robert Jan Pauw Cor R W J Cremers Richard J H Smith Michael B Petersen Guy Van Camp

Eur J Hum Genet 2007 Mar 10;15(3):362-8. Epub 2007 Jan 10.

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201761DOI Listing
March 2007

Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.

Authors:
Alex W Hewitt John R Samples R Rand Allingham Irma Järvelä George Kitsos Subbaiah R Krishnadas Julia E Richards Paul R Lichter Michael B Petersen Periasamy Sundaresan Janey L Wiggs David A Mackey Mary K Wirtz

Mol Vis 2007 Mar 28;13:487-92. Epub 2007 Mar 28.

Department of Ophthalmology, Flinders University, Adelaide, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2649311PMC
March 2007

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

Authors:
Marja Majava Kristien P Hoornaert Deborah Bartholdi Mieke C Bouma Katelijne Bouman Marta Carrera Koenraad Devriendt Jane Hurst George Kitsos Dunja Niedrist Michael B Petersen Debbie Shears Irene Stolte-Dijkstra J M Van Hagen Leena Ala-Kokko Minna Männikkö Geert R Mortier

Am J Med Genet A 2007 Feb;143A(3):258-64

Collagen Research Unit, Biocenter, Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1002/ajmg.a.31586DOI Listing
February 2007

Prenatal diagnosis of glycogen storage disease type IV.

Authors:
H Orhan Akman Charalampos Karadimas Yolanda Gyftodimou Maria Grigoriadou Haris Kokotas Anastasia Konstantinidou Hector Anninos Efstratios Patsouris Harshwardhan M Thaker Jeffrey B Kaplan Isaam Besharat Konstantina Hatzikonstantinou Spyridon Fotopoulos Salvatore Dimauro Michael B Petersen

Prenat Diagn 2006 Oct;26(10):951-5

Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.

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http://doi.wiley.com/10.1002/pd.1533
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October 2006

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

Authors:
Vassiliki Iliadou Kris Van Den Bogaert Nikolaos Eleftheriades George Aperis Kathleen Vanderstraeten Erik Fransen Melissa Thys Maria Grigoriadou Andreas Pampanos John Economides Theophilos Iliades Guy Van Camp Michael B Petersen

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.

Authors:
Charalampos Karadimas Dimitrios Trouvas George Haritatos Constantinos Makatsoris Evangelos Dedoulis Voula Velissariou Thalia Antoniadi Angeliki Hatzaki Michael B Petersen

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

A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.

Authors:
Michael B Petersen George Kitsos John R Samples N Donna Gaudette Effrosini Economou-Petersen Renée Sykes Kristal Rust Maria Grigoriadou George Aperis Dongseok Choi Konstantinos Psilas Jamie E Craig Patricia L Kramer David A Mackey Mary K Wirtz

Invest Ophthalmol Vis Sci 2006 Feb;47(2):620-5

Department of Genetics, Institute of Child Health, Athens, Greece.

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http://jov.arvojournals.org/data/Journals/IOVS/933234/z7g002
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http://dx.doi.org/10.1167/iovs.05-0631DOI Listing
February 2006

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

Authors:
Marie Wattenhofer Alexandre Reymond Véronique Falciola Anne Charollais Dorothée Caille Christelle Borel Robert Lyle Xavier Estivill Michael B Petersen Paolo Meda Stylianos E Antonarakis

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.

Authors:
Eleftheria Papadopoulou Stavros Sifakis Maria Rogalidou Antonios Makrigiannakis Christina Giannakopoulou Michael B Petersen

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.

Authors:
George P Patrinos Sjozef van Baal Michael B Petersen Manoussos N Papadakis

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.

Authors:
Stavros Sifakis Voula Velissariou Eleftheria Papadopoulou Michael B Petersen Eugenios Koumantakis

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.

Authors:
Merete Bugge Celia deLozier-Blanchet Mads Bak Carsten A Brandt Jens Michael Hertz Jytte Bieber Nielsen Laurance Duprez Michael B Petersen

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.

Authors:
Merete Bugge Carsten A Brandt Michael B Petersen

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.

Authors:
Mazin B Qumsiyeh Syed K Rafi Catherine Sarri Maria Grigoriadou Jolanda Gyftodimou Effie Pandelia Hara Laskari Michael B Petersen

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

Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis.

Authors:
Voula Velissariou Thalia Antoniadi Jolanda Gyftodimou Katerina Bakou Maria Grigoriadou Stavroula Christopoulou Athina Hatzipouliou Jackie Donoghue Panagiotis Karatzis Efstathia Katsarou Michael B Petersen

Eur J Hum Genet 2002 Nov;10(11):694-8

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

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http://www.nature.com/articles/5200867
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http://dx.doi.org/10.1038/sj.ejhg.5200867DOI Listing
November 2002

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

Authors:
Andreas Pampanos John Economides Vassiliki Iliadou Polyxeni Neou Paulos Leotsakos Nikolaos Voyiatzis Nikolaos Eleftheriades Michael Tsakanikos Thalia Antoniadi Angeliki Hatzaki Irene Konstantopoulou Drakoulis Yannoukakos Karen Gronskov Karen Brondum-Nielsen Maria Grigoriadou Jolanda Gyftodimou Theophilos Iliades Antonios Skevas Michael B Petersen

Int J Pediatr Otorhinolaryngol 2002 Sep;65(2):101-8

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

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http://dx.doi.org/10.1016/s0165-5876(02)00177-5DOI Listing
September 2002

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

Authors:
Asli N Silahtaroglu Karen Brondum-Nielsen Ole Gredal Lene Werdelin Marios Panas Michael B Petersen Niels Tommerup Zeynep Tümer

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

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

Authors:
Marie Wattenhofer Mario Vincenzo Di Iorio Raquel Rabionet Loretta Dougherty Andreas Pampanos Torsten Schwede Barbara Montserrat-Sentis Maria Lourdes Arbones Theofilos Iliades Annamaria Pasquadibisceglie Marcello D'Amelio Sura Alwan Colette Rossier Hans-Henrik M Dahl Michael B Petersen Xavier Estivill Paolo Gasparini Hamish S Scott Stylianos E Antonarakis

J Mol Med (Berl) 2002 Feb 18;80(2):124-31. Epub 2001 Dec 18.

Graduate Program of Molecular and Cellular Biology, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.1007/s00109-001-0310-6DOI Listing
February 2002