Publications by authors named "Hatip Aydin"

18Publications

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A 2020 Oct 24. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61926DOI Listing
October 2020

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Dev Cell 2019 12 14;51(6):713-729.e6. Epub 2019 Nov 14.

Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; MD/PhD Medical Scientist Training Program and MHG Graduate program, BCM, Houston, TX 77030, USA; Program in Developmental Biology, BCM, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.devcel.2019.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917859PMC
December 2019

Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort.

Ophthalmic Genet 2016 12 28;37(4):415-418. Epub 2016 Mar 28.

a Center of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital , Istanbul , Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2015.1126611DOI Listing
December 2016

A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.

Eur J Med Genet 2016 Nov 13;59(11):604-606. Epub 2016 Sep 13.

Department of Medical Genetics, Istanbul Zeynep Kamil Women and Children Training and Research Hospital, Turkey. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2016.09.009DOI Listing
November 2016

Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects.

Turk J Med Sci 2016 Feb 17;46(2):489-94. Epub 2016 Feb 17.

Department of Perinatology, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, İstanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3906/sag-1502-128DOI Listing
February 2016

A rare case of rhombencephalosynapsis and prenatal diagnosis.

J Obstet Gynaecol 2016 Aug 25;36(6):839-841. Epub 2016 Mar 25.

c Department of Patology , Zeynep Kamil Maternity and Children's Training and Research Hospital , Istanbul , Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/01443615.2015.1133575DOI Listing
August 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:

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

DNA damage is increased in lymphocytes of patients with metabolic syndrome.

Mutat Res Genet Toxicol Environ Mutagen 2015 Apr 13;782:30-5. Epub 2015 Mar 13.

Department of Family Medicine, Istanbul Dr. Lütfi Kırdar Kartal Training and Research Hospital, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mrgentox.2015.03.009DOI Listing
April 2015

Prenatal diagnosis and outcome of lymphangiomas and its relationship with fetal chromosomal abnormalities.

J Matern Fetal Neonatal Med 2016 27;29(3):466-72. Epub 2015 Jan 27.

c Department of Genetics , Zeynep Kamil Maternity and Children's Training and Research Hospital , Istanbul , Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/14767058.2015.1004536DOI Listing
October 2016

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Eur J Hum Genet 2014 Sep 15;22(9):1145-8. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA [3] Texas Children's Hospital, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135405PMC
September 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

Frequency of genetic mutations associated with thromboembolism in the Western Black Sea Region.

Intern Med 2011 1;50(1):17-21. Epub 2011 Jan 1.

Department of Medical Genetics, Abant Izzet Baysal University, Izzet Baysal Medical School, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2169/internalmedicine.50.4144DOI Listing
May 2011