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Publications Authored by Nurten Akarsu | PubFacts
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Nurten Akarsu

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CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

Hum Mol Genet 2015 Apr 5;24(8):2267-73. Epub 2015 Jan 5.

Institute of Human Genetics, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany,

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http://dx.doi.org/10.1093/hmg/ddu744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380072PMC
April 2015

Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study.

Turk J Pediatr 2012 Nov-Dec;54(6):617-25

Department of Pediatric Genetics, Marmara University Faculty of Medicine, İstanbul.

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July 2014

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

Br J Ophthalmol 2014 Jun 25;98(6):832-40. Epub 2014 Feb 25.

Department of Medical Genetics, Gene Mapping Laboratory, School of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1136/bjophthalmol-2013-304058DOI Listing
June 2014

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Am J Med Genet A 2014 Feb 5;164A(2):291-304. Epub 2013 Nov 5.

Department of Pediatrics, Pediatric Genetics, Hacettepe University Medical Faculty, Ankara, Turkey; Department of Pediatrics, Pediatric Genetics, Acıbadem University Medical Faculty, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36248DOI Listing
February 2014

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mol Genet Genomic Med 2013 Nov 19;1(4):223-37. Epub 2013 Aug 19.

Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865590PMC
November 2013

Three patients resembling Teebi-Shaltout syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2570-5. Epub 2013 Aug 5.

Mersin Maternity and Children Hospital, Medical Genetic Department, Mersin, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36082DOI Listing
October 2013

Smaller hippocampus volume is associated with short variant of 5-HTTLPR polymorphism in medication-free major depressive disorder patients.

Neuropsychobiology 2011 20;63(1):22-8. Epub 2010 Oct 20.

Department of Psychiatry, Affective Disorders Unit, Ege University School of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1159/000321834DOI Listing
March 2011

Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation.

Am J Med Genet A 2010 Oct;152A(10):2628-33

Dermatology Clinic, Haydarpasa Numune Training and Research Hospital, and Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.33649DOI Listing
October 2010

Intracranial and extracranial malformations in patients with craniofacial anomalies.

J Craniofac Surg 2010 Sep;21(5):1460-4

Department of Plastic and Reconstructive Surgery, Faculty of Medicine, Hacettepe University, Sıhhiye, Ankara, Turkey.

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http://dx.doi.org/10.1097/SCS.0b013e3181ebcd27DOI Listing
September 2010

The effect of depression, BDNF gene val66met polymorphism and gender on serum BDNF levels.

Brain Res Bull 2010 Jan;81(1):61-5

Ataturk University School of Medicine, Department of Psychiatry, 25240 Erzurum, Turkey.

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http://dx.doi.org/10.1016/j.brainresbull.2009.06.022DOI Listing
January 2010

ALX4 dysfunction disrupts craniofacial and epidermal development.

Hum Mol Genet 2009 Nov 19;18(22):4357-66. Epub 2009 Aug 19.

Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1093/hmg/ddp391DOI Listing
November 2009

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.

Acta Ophthalmol 2009 Feb 19;87(1):52-7. Epub 2008 Jun 19.

Ulucanlar Eye Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1111/j.1600-0420.2007.01082.xDOI Listing
February 2009

Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.

Leuk Res 2008 Jun 10;32(6):972-5. Epub 2008 Jan 10.

Hacettepe University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, 06100-Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.leukres.2007.11.033DOI Listing
June 2008

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Proc Natl Acad Sci U S A 2008 Mar 7;105(11):4232-6. Epub 2008 Mar 7.

Department of Molecular Biology and Genetics, Faculty of Science and Institute of Materials Science and Nanotechnology, Bilkent University, Ankara 06800, Turkey.

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http://dx.doi.org/10.1073/pnas.0710010105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2393756PMC
March 2008

Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region.

Am J Med Genet A 2007 Jun;143A(12):1308-12

Genetic Disorders Unit, Department of Pediatrics, Marmara University Medical Faculty, Istanbul, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.31766
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31766DOI Listing
June 2007

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

Am J Med Genet A 2006 Oct;140(20):2155-62

Associated Regional and University Pathologists (ARUP), Institute of Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1002/ajmg.a.31450DOI Listing
October 2006

Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity.

Eur J Hum Genet 2006 Jun;14(6):791-7

Department of Molecular Biology and Genetics, Bilkent University, Faculty of Science, Ankara, Turkey.

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http://dx.doi.org/10.1038/sj.ejhg.5201614DOI Listing
June 2006

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.

Am J Med Genet A 2005 May;134(4):404-8

Zentrum für Humangenetik, Philipps-Universität Marburg, Bahnhofstr. 7, Marburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.30656DOI Listing
May 2005

Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.

Prog Neuropsychopharmacol Biol Psychiatry 2004 Mar;28(2):255-66

Department of Psychiatry, Faculty of Medicine, Hacettepe University, 06100 Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.pnpbp.2003.10.002DOI Listing
March 2004

Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.

Blood 2003 Sep 24;102(5):1900-3. Epub 2003 Apr 24.

Hacettepe University, Faculty of Medicine, Department of Pediatrics, Institute of Child Health and Section of Pediatric Hematology, 06100, Ankara, Turkey.

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http://dx.doi.org/10.1182/blood-2003-02-0628DOI Listing
September 2003

[Hunting the susceptibility gene for psychosis: a study of a family overloaded with schizophrenia and bipolar disorder].

Turk Psikiyatri Derg 2003 ;14(1):7-19

Oğr, Gör., Psikiyatri AD., Pediyatrik Hematoloji Unitesi, Gen Haritalama Laboratuvari, Ankara.

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July 2003

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.

Am J Hum Genet 2003 Jul 11;73(1):49-62. Epub 2003 Jun 11.

Neuropsychiatric Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180589PMC
http://dx.doi.org/10.1086/376547DOI Listing
July 2003

Male cells in female recipients of hematopoietic-cell transplants.

N Engl J Med 2002 Jul;347(3):218-20; author reply 218-20

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July 2002

Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder.

Am J Med Genet 2002 Apr;109(1):22-35

Department of Plastic and Reconstructive Surgery, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.10282DOI Listing
April 2002