Publications by authors named "Pelin Ozlem Simsek-Kiper"

47Publications

A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.

Neuropediatrics 2020 Jul 14. Epub 2020 Jul 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0040-1714125DOI Listing
July 2020

Peters Plus syndrome: a recognizable clinical entity.

Turk J Pediatr 2020 ;62(1):136-140

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2020.01.020DOI Listing
January 2020

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.

View Article

Download full-text PDF

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

Ophthalmo-acromelic syndrome in an infant.

Eur J Med Genet 2019 Jul 5;62(7):103664. Epub 2019 May 5.

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183072
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2019.05.003DOI Listing
July 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.

View Article

Download full-text PDF

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

Mystery Case: Pontine tegmental cap dysplasia in a neonate.

Neurology 2018 11;91(22):e2100-e2101

From the Departments of Pediatric Neurology (N.B., M.T., H.T.) and Pediatric Genetics (P.O.S.-K.), Hacettepe University Ihsan Dogramaci Children's Hospital; and Department of Radiology (S.P.), Hacettepe University Hospitals, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006578DOI Listing
November 2018

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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183036
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03012115173058
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36248DOI Listing
February 2014

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
August 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.

View Article

Download full-text PDF

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

IMPAD1 mutations in two Catel-Manzke like patients.

Am J Med Genet A 2012 Sep 6;158A(9):2183-7. Epub 2012 Aug 6.

Département de génétique, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35504DOI Listing
September 2012

Emergency room management of acute bronchiolitis: a randomized trial of nebulized epinephrine.

Turk J Pediatr 2011 Nov-Dec;53(6):651-60

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

View Article

Download full-text PDF

Source
March 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.

View Article

Download full-text PDF

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

A newborn with overlapping features of AEC and EEC syndromes.

Am J Med Genet A 2011 Dec 7;155A(12):3100-3. Epub 2011 Nov 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34328DOI Listing
December 2011

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.

View Article

Download full-text PDF

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