Esra Kilic

Esra Kilic

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Esra Kilic

Esra Kilic

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Reply to 'contribution of the MRPS22 variant and a down mosaic to the phenotype'.

Metab Brain Dis 2018 12 31;33(6):1779-1780. Epub 2018 Jul 31.

Institute of Child Health, Metabolism Unit, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1007/s11011-018-0300-9DOI Listing
December 2018

First cardiac manifestation of hypotonia-cystinuria syndrome.

Metab Brain Dis 2018 08 7;33(4):1375-1379. Epub 2018 Apr 7.

Pediatric Hematology-Oncology Training and Research Hospital, Pediatric Genetic Unit, Ankara, Turkey.

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http://link.springer.com/10.1007/s11011-018-0226-2
Publisher Site
http://dx.doi.org/10.1007/s11011-018-0226-2DOI Listing
August 2018

Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome.

Turk J Pediatr 2017 ;59(1):80-83

Divisions of Pediatric Gastroenterology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.24953/turkjped.2017.01.014DOI Listing
December 2017

Preparation of electrospun polyurethane nanofiber mats for the release of doxorubicine.

J Mater Sci Mater Med 2017 Dec 23;29(1). Epub 2017 Dec 23.

Faculty of Science, Department of Chemistry, Hacettepe University, 06800 Beytepe, Ankara, Turkey.

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http://dx.doi.org/10.1007/s10856-017-6013-5DOI Listing
December 2017

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

A patient with mitochondrial disorder due to a novel mutation in MRPS22.

Metab Brain Dis 2017 10 27;32(5):1389-1393. Epub 2017 Jul 27.

Institute of Child Health, Metabolism Unit, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1007/s11011-017-0074-5DOI Listing
October 2017

A Pulmonary Tuberculosis Case Presented with Tonsillar Involvement.

Turk Thorac J 2016 Jul 1;17(3):122-124. Epub 2016 Jul 1.

Clinic of Head and Neck Surgery, Ankara Abdurrahman Yurtarslan Oncology Training and Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.5578/ttj.30509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791822PMC
July 2016

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

A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings.

Turk J Pediatr 2014 Jul-Aug;56(4):430-3

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

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March 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

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

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

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

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

Analysis of idiopathic ventricular tachycardia in childhood.

Turk J Pediatr 2012 May-Jun;54(3):269-72

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

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December 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

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

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.

J Bone Miner Metab 2011 Sep 25;29(5):621-5. Epub 2011 Feb 25.

Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1007/s00774-011-0260-1DOI Listing
September 2011

Isotretinoin (13-cis-retinoic acid)-associated premature ventricular contractions.

Turk J Pediatr 2009 Jul-Aug;51(4):387-8

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

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January 2010

Re: A pediatric cancer pain program in Jordan.

J Pain Symptom Manage 2009 Apr;37(4):e3-5; author reply e6

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http://dx.doi.org/10.1016/j.jpainsymman.2008.11.006DOI Listing
April 2009

[The effect of permanent ostomy on body image, self-esteem, marital adjustment, and sexual functioning].

Turk Psikiyatri Derg 2007 ;18(4):302-10

Psikiyatri AD., Cerrahpaşa Tip Fak., Genel Cerrahi AD, Istanbul.

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February 2008

Clinical features of 35 patients with Parkinson's disease displaying REM behavior disorder.

Clin Neurol Neurosurg 2005 Jun 11;107(4):306-9. Epub 2004 Nov 11.

Department of Neurology, Istanbul University, Cerrahpasa Medical School, 34098 Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.clineuro.2004.09.021DOI Listing
June 2005