Publications by authors named "Koray Boduroglu"

73Publications

Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa.

J Pediatr Endocrinol Metab 2019 Dec;32(12):1377-1384

Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Department of Pediatrics, Division of Adolescent Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1515/jpem-2019-0240DOI Listing
December 2019

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Fetal Pediatr Pathol 2020 Apr 15;39(2):163-171. Epub 2019 Jul 15.

Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1080/15513815.2019.1639089DOI Listing
April 2020

Syrian Children in Turkey: A Model of Action for National Pediatric Societies.

Pediatrics 2019 02 15;143(2). Epub 2019 Jan 15.

Department of Pediatrics, Uniformed Services University of Health Sciences, Bethesda, Maryland.

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http://dx.doi.org/10.1542/peds.2018-0539DOI Listing
February 2019

Intrafamilial variability of XYLT2-related spondyloocular syndrome.

Eur J Med Genet 2019 Nov 27;62(11):103585. Epub 2018 Nov 27.

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

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http://dx.doi.org/10.1016/j.ejmg.2018.11.019DOI Listing
November 2019

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

Eur J Med Genet 2019 Jun 11;62(6):103535. Epub 2018 Sep 11.

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

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183036
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http://dx.doi.org/10.1016/j.ejmg.2018.09.002DOI Listing
June 2019

Anauxetic dysplasia: A rare clinical entity.

Turk J Pediatr 2018 ;60(1):89-93

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

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http://dx.doi.org/10.24953/turkjped.2018.01.014DOI Listing
January 2019

Clinical and molecular evaluation of 16 patients with Rett syndrome.

Turk J Pediatr 2018 ;60(1):1-9

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

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http://dx.doi.org/10.24953/turkjped.2018.01.001DOI Listing
January 2019

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Am J Med Genet A 2018 09 31;176(9):2009-2016. Epub 2018 Jul 31.

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

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http://dx.doi.org/10.1002/ajmg.a.40427DOI Listing
September 2018

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

J Hum Genet 2018 Sep 8;63(9):1003-1007. Epub 2018 Jun 8.

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

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http://dx.doi.org/10.1038/s10038-018-0473-4DOI Listing
September 2018

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Eur J Med Genet 2019 Jan 25;62(1):21-26. Epub 2018 Apr 25.

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

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http://dx.doi.org/10.1016/j.ejmg.2018.04.013DOI Listing
January 2019

Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.

Turk J Pediatr 2018 ;60(5):506-513

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

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http://dx.doi.org/10.24953/turkjped.2018.05.006DOI Listing
June 2019

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

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

Fetal Pediatr Pathol 2017 Dec 8;36(6):445-451. Epub 2017 Dec 8.

a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.

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http://dx.doi.org/10.1080/15513815.2017.1379039DOI Listing
December 2017

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center.

Am J Perinatol 2018 Apr 7;35(5):427-433. Epub 2017 Nov 7.

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

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http://dx.doi.org/10.1055/s-0037-1608632DOI Listing
April 2018

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Am J Med Genet A 2017 Dec 8;173(12):3143-3152. Epub 2017 Oct 8.

Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.38495DOI Listing
December 2017

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

Korean J Fam Med 2017 Mar 22;38(2):102-105. Epub 2017 Mar 22.

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

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http://dx.doi.org/10.4082/kjfm.2017.38.2.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371580PMC
March 2017

HERC1 mutations in idiopathic intellectual disability.

Eur J Med Genet 2017 May 18;60(5):279-283. Epub 2017 Mar 18.

Hacettepe University, Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2017.03.007DOI Listing
May 2017

A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.

Turk J Pediatr 2016 ;58(1):97-100

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

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http://dx.doi.org/10.24953/turkjped.2016.01.015DOI Listing
June 2017

A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

J Child Neurol 2016 06 25;31(7):913-7. Epub 2016 Jan 25.

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

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http://dx.doi.org/10.1177/0883073815627884DOI Listing
June 2016

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

Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.

Am J Med Genet A 2015 Sep 30;167A(9):2065-74. Epub 2015 Apr 30.

Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.37122DOI Listing
September 2015

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2015 Apr 3;167A(4):919-21. Epub 2015 Mar 3.

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

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http://dx.doi.org/10.1002/ajmg.a.36955DOI Listing
April 2015

Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report.

Clin Dysmorphol 2014 Oct;23(4):147-51

Departments of aMedical Genetics bPediatrics, Pediatric Genetics, Hacettepe University, Ankara, Turkey cJena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Jena, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000042DOI Listing
October 2014

Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease.

Bone 2014 Nov 6;68:6-10. Epub 2014 Aug 6.

Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2014.07.034DOI Listing
November 2014

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

Am J Med Genet A 2014 Oct 5;164A(10):2667-71. Epub 2014 Aug 5.

Unit of Pediatric Genetics Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey; Division of Molecular Pediatrics Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36692DOI Listing
October 2014

Celiac disease in Williams-Beuren syndrome.

Turk J Pediatr 2014 Mar-Apr;56(2):154-9

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

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March 2016

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

Turk J Pediatr 2014 Jan-Feb;56(1):80-4

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

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September 2015

Barraquer-Simons syndrome: a rare clinical entity.

Am J Med Genet A 2014 Jul 1;164A(7):1756-60. Epub 2014 May 1.

Pediatric Genetic Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36491DOI Listing
July 2014

Prenatal diagnosis in a fetus with de-novo 20q11.2q13.1 deletion and review of the literature.

Clin Dysmorphol 2014 Jul;23(3):111-3

Departments of aObstetrics and Gynecology bPediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000037DOI Listing
July 2014

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

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

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.

Turk J Pediatr 2013 Mar-Apr;55(2):207-9

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

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December 2013

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

Am J Med Genet A 2013 Dec 16;161A(12):3161-5. Epub 2013 Aug 16.

Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36173DOI Listing
December 2013

Vesiculopustular eruption in neonatal transient myeloproliferative disorder.

Indian J Pediatr 2014 Apr 16;81(4):391-3. Epub 2013 Aug 16.

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

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http://dx.doi.org/10.1007/s12098-013-1192-7DOI Listing
April 2014

A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma.

Ophthalmic Genet 2014 Dec 8;35(4):248-51. Epub 2013 Jul 8.

Department of Ophthalmology and.

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http://dx.doi.org/10.3109/13816810.2013.811269DOI Listing
December 2014

Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.

Turk J Pediatr 2012 Jul-Aug;54(4):440-3

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

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August 2013

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

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Hum Mol Genet 2013 Apr 17;22(8):1643-53. Epub 2013 Jan 17.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.

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http://dx.doi.org/10.1093/hmg/ddt014DOI Listing
April 2013

Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p.

J AAPOS 2012 Oct;16(5):473-5

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

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http://dx.doi.org/10.1016/j.jaapos.2012.05.008DOI Listing
October 2012

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.

Turk J Pediatr 2012 Mar-Apr;54(2):198-202

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

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August 2012

Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).

Eur J Pediatr 2012 Oct 17;171(10):1567-71. Epub 2012 Apr 17.

Department of Pediatrics, Division of Pediatric Genetic, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-012-1732-6DOI Listing
October 2012

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

Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.

Am J Med Genet A 2011 Sep 10;155A(9):2288-92. Epub 2011 Aug 10.

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

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http://dx.doi.org/10.1002/ajmg.a.34163DOI Listing
September 2011

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.

Turk J Pediatr 2009 May-Jun;51(3):294-7

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

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October 2009

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

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

Cerebro-facio-thoracic dysplasia: expanding the phenotype.

Clin Dysmorphol 2007 Apr;16(2):121-5

Academic Department of Medical Genetics and Regional Genetics Service, St Mary's Hospital, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328012e292DOI Listing
April 2007

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

Celiac disease screening in 100 Turkish children with Down syndrome.

Turk J Pediatr 2005 Apr-Jun;47(2):138-40

Clinical 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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September 2005

Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance.

Am J Med Genet A 2004 Sep;130A(1):92-5

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

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http://dx.doi.org/10.1002/ajmg.a.30114DOI Listing
September 2004

Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women.

Am J Med Genet A 2004 May;127A(1):5-10

Department of Pediatrics, Genetics Unit, Hacettepe University, Ihsan Doğramaci Children's Hospital, 06100 Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.20432DOI Listing
May 2004

Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings.

Clin Dysmorphol 2002 Apr;11(2):125-8

Department of Clinical Genetics, Hacettepe University, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1097/00019605-200204000-00010DOI Listing
April 2002