Publications by authors named "Erkan Koparir"

11Publications

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.

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

Differential expression of hypertension-associated microRNAs in the plasma of patients with white coat hypertension.

Medicine (Baltimore) 2015 Apr;94(13):e693

From the Department of Internal Medicine (MC, SY, CA, HY, YK), Cerrahpasa Medical School, Istanbul University; Department of Medical Genetics (OFK, E Koparir, E Kirat, MO), Istanbul University Cerrahpasa Medical School, Istanbul; Molecular Biology and Genetics Department (OFK), Erzurum Technical University, Erzurum, Turkey; Department of Pathology & Immunology (MO), Baylor College of Medicine, Houston, Texas; and Department of Molecular Biology and Genetics (MO), Biruni University, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000000693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554020PMC
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36683
Publisher Site
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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