Alper Gezdirici

Alper Gezdirici

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Alper Gezdirici

Alper Gezdirici

Publications by authors named "Alper Gezdirici"

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27Publications

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Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis.

Metab Brain Dis 2019 02 29;34(1):283-288. Epub 2018 Nov 29.

Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey.

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http://link.springer.com/10.1007/s11011-018-0354-8
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http://dx.doi.org/10.1007/s11011-018-0354-8DOI Listing
February 2019

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288205PMC
December 2018

Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2.

Anatol J Cardiol 2018 Jan;19(1):74-77

Department of Pediatric Cardiology, İstanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital; İstanbul-Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5864794PMC
http://dx.doi.org/10.14744/AnatolJCardiol.2017.7911DOI Listing
January 2018

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.

Clin Dysmorphol 2017 Jul;26(3):142-147

aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey bCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1097/MCD.0000000000000179DOI Listing
July 2017

How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?

J Matern Fetal Neonatal Med 2017 Apr 8;30(8):938-941. Epub 2016 Jun 8.

b Department of Maternal Fetal Medicine , Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey.

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http://dx.doi.org/10.1080/14767058.2016.1191463DOI Listing
April 2017

A Huge Fetal Sacrococcygeal Teratoma with a Vascular Disruption Sequence.

Fetal Pediatr Pathol 2015 1;34(4):212-5. Epub 2015 Jun 1.

Department of Obstetrics and Gynecology, Kanuni Sultan Suleyman Training and Research Hospital , Istanbul , Turkey.

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http://dx.doi.org/10.3109/15513815.2015.1042603DOI Listing
May 2016

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.

Hum Mol Genet 2015 Oct 10;24(19):5378-87. Epub 2015 Jul 10.

Department of Medical Genetics, Istanbul University, Cerrahpasa Medical School, Istanbul, Turkey, Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA and Department of Molecular Biology and Genetics, Biruni University, Topkapi, Istanbul, Turkey

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http://dx.doi.org/10.1093/hmg/ddv261DOI Listing
October 2015

Report of a family with craniofrontonasal syndrome.

Clin Dysmorphol 2015 Apr;24(2):79-83

Departments of aMedical Genetics bOrthopedics and Traumatology, Tepecik Education and Research Hospital, Izmir cDepartment of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul dDepartment of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000067DOI Listing
April 2015

Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.

Am J Med Genet A 2014 Oct 16;164A(10):2535-40. Epub 2014 Jul 16.

Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.36683
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http://dx.doi.org/10.1002/ajmg.a.36683DOI Listing
October 2014

A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.

Clin Dysmorphol 2014 Jan;23(1):1-7

aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University bDepartment of Medical Genetics, Zeynep Kamil Women and Children Diseases Education and Research Hospital, Istanbul, Turkey cCentre for Human Genetics (Zentrum für Humangenetik, ZHMA), Mannheim, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000020DOI Listing
January 2014

A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication.

Gene 2013 Sep 8;527(2):675-8. Epub 2013 Jul 8.

Istanbul University, Cerrahpasa Medical School, Department of Medical Genetics, Fatih, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.gene.2013.06.038DOI Listing
September 2013

A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia.

Clin Dysmorphol 2013 Jan;22(1):33-5

Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e32835b8e6eDOI Listing
January 2013