Publications by authors named "Dilek Aktas"

47Publications

Function in unaffected arms of children with obstetric brachial plexus palsy.

Eur J Paediatr Neurol 2018 Jul 26;22(4):610-614. Epub 2018 Mar 26.

Marmara University Medical Faculty, Physical Medicine and Rehabilitation Department, Istanbul, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173001
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http://dx.doi.org/10.1016/j.ejpn.2018.03.005DOI Listing
July 2018

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry.

Eur J Obstet Gynecol Reprod Biol 2018 Feb 16;221:76-80. Epub 2017 Dec 16.

Hacettepe University, Faculty of Medicine, Department of Pediatrics, Department of Pediatric Genetics, Ankara, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S03012115173058
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http://dx.doi.org/10.1016/j.ejogrb.2017.12.028DOI Listing
February 2018

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1038/ng.3875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685441PMC
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:

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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

Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.

Turk J Pediatr 2014 Sep-Oct;56(5):542-5

Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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March 2016

Body Image Perceptions of Persons With a Stoma and Their Partners: A Descriptive, Cross-sectional Study.

Ostomy Wound Manage 2015 May;61(5):26-40

Gazi University, Faculty of Health Science, Department of Nursing, Ankara, Turkey;

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May 2015

Etiological yield of SNP microarrays in idiopathic intellectual disability.

Eur J Paediatr Neurol 2014 May 25;18(3):327-37. Epub 2014 Jan 25.

Hacettepe University, Department of Pediatric Genetics, Ankara, Turkey; Hacettepe University, Department of Medical Genetics, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejpn.2014.01.004DOI Listing
May 2014

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.

J Child Neurol 2013 Jul 22;28(7):926-32. Epub 2013 Apr 22.

Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/0883073813484967DOI Listing
July 2013

Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population.

Mol Vis 2013 28;19:114-20. Epub 2013 Jan 28.

Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559092PMC
September 2013

Two siblings with similar phenotypes: one of them had ring 20 chromosome.

Clin EEG Neurosci 2013 Jan 27;44(1):58-61. Epub 2012 Nov 27.

Department of Neurology, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/1550059412451700DOI Listing
January 2013

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.

Turk J Pediatr 2011 Sep-Oct;53(5):558-60

Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://www.turkishjournalpediatrics.org/pediatrics/pdf/pdf_T
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February 2012

WAGR syndrome with tetralogy of Fallot and hydrocephalus.

J Pediatr Hematol Oncol 2011 May;33(4):e174-5

Department of Pediatric Oncology, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1097/MPH.0b013e3182114e0eDOI Listing
May 2011

CYP1A1 polymorphism in adolescents with polycystic ovary syndrome.

Int J Gynaecol Obstet 2011 Jan 20;112(1):8-10. Epub 2010 Oct 20.

Department of Pediatrics, Division of Adolescent Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ijgo.2010.07.032DOI Listing
January 2011

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients.

Turk J Pediatr 2009 May-Jun;51(3):199-206

Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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October 2009

Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: a third patient suggesting autosomal recessive inheritance.

Am J Med Genet A 2009 Jun;149A(6):1317-8

Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.32825DOI Listing
June 2009

Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome.

Clin Dysmorphol 2008 Oct;17(4):289-90

Department of Paediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e3283079e7cDOI Listing
October 2008

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Turk J Pediatr 2008 May-Jun;50(3):287-90

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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October 2008

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

Eur J Med Genet 2008 Jul-Aug;51(4):343-50. Epub 2008 Mar 27.

Clinical Genetics Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2008.03.002DOI Listing
October 2008

CYP1A1 gene polymorphism and polycystic ovary syndrome.

Reprod Biomed Online 2008 Mar;16(3):356-60

Department of Obstetrics and Gynecology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1016/s1472-6483(10)60596-2DOI Listing
March 2008

Monosomy 7 mosaicism in metastatic choroidal melanoma.

Cancer Genet Cytogenet 2007 Aug;177(1):70-2

Department of Ophthalmology, Hacettepe University, Sihhiye, Ankara 06100, Turkey.

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http://dx.doi.org/10.1016/j.cancergencyto.2007.05.004DOI Listing
August 2007

Myelodysplastic syndrome associated with monosomy 7 in childhood: a retrospective study.

Cancer Genet Cytogenet 2006 Nov;171(1):72-5

Department of Genetics, Hacettepe University School of Medicine, Ihsan Dogramaci Children's Hospital, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.cancergencyto.2006.06.010DOI Listing
November 2006

Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood.

Nephrology (Carlton) 2006 Apr;11(2):81-4

Department of Internal Medicine, Atatürk Teaching and Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1111/j.1440-1797.2006.00443.xDOI Listing
April 2006

Congenital dysgranulopoietic neutropenia.

Pediatr Blood Cancer 2008 Jan;50(1):115-9

Unit of Pediatric Hematology, Ankara Oncology Hospital, Demetevler, Ankara, Türkiye.

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http://dx.doi.org/10.1002/pbc.20877DOI Listing
January 2008

Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis.

Eur J Med Genet 2006 Mar-Apr;49(2):141-9. Epub 2005 Jul 1.

Department of Genetics, Hacettepe University Medical School, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2005.05.012DOI Listing
April 2009

Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.

Am J Med Genet A 2006 Mar;140(6):628-32

Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Doğramaci Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.31131DOI Listing
March 2006

CYP1A1 gene polymorphism as a risk factor for cervical intraepithelial neoplasia and invasive cervical cancer.

Gynecol Oncol 2006 Jun 5;101(3):503-6. Epub 2006 Jan 5.

Department of Obstetrics and Gynecology, Hacettepe University School of Medicine, 06100, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ygyno.2005.11.018DOI Listing
June 2006

Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population.

Turk J Pediatr 2005 Oct-Dec;47(4):327-33

Clinical Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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January 2006

Tetraploid/diploid mosaicism with generalized aggressive periodontitis.

J Periodontol 2005 Sep;76(9):1567-71

Hacettepe University, Faculty of Dentistry, Department of Periodontology, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1902/jop.2005.76.9.1567DOI Listing
September 2005

Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome.

Eur J Med Genet 2005 Apr-Jun;48(2):183-7. Epub 2005 Feb 1.

Department of Pediatrics, Başkent University Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2005.01.022DOI Listing
September 2005

Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations.

Am J Med Genet A 2005 Jul;136(3):265-8

Clinical Genetics Section, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.30808
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http://dx.doi.org/10.1002/ajmg.a.30808DOI Listing
July 2005

CYP1A1 and GSTM1 polymorphic genotypes in patients with prostate cancer in a Turkish population.

Cancer Genet Cytogenet 2004 Oct;154(1):81-5

Department of Genetics, Hacettepe University School of Medicine, 06100, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.cancergencyto.2004.01.023DOI Listing
October 2004

Analysis of CHK2 in patients with myelodysplastic syndromes.

Leuk Res 2002 Nov;26(11):985-7

Department of Genetics, Hacettepe University Children's Hospital, 06100 Sýhhýye, Ankara, Turkey.

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http://dx.doi.org/10.1016/s0145-2126(02)00075-9DOI Listing
November 2002

CYP1A1 gene polymorphism and risk of epithelial ovarian neoplasm.

Gynecol Oncol 2002 Aug;86(2):124-8

Department of Genetics, Hacettepe University Medical School, 06100, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1006/gyno.2002.6720DOI Listing
August 2002