Fatma Mujgan Sonmez

Fatma Mujgan Sonmez

UNVERIFIED PROFILE

Are you Fatma Mujgan Sonmez?   Register this Author

Register author
Fatma Mujgan Sonmez

Fatma Mujgan Sonmez

Publications by authors named "Fatma Mujgan Sonmez"

Are you Fatma Mujgan Sonmez?   Register this Author

25Publications

472Reads

46Profile Views

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism.

Turk J Pediatr 2019;61(1):92-96

Developmental Child Neurology Association, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2019.01.014DOI Listing
January 2020

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Am J Hum Genet 2019 04 21;104(4):731-737. Epub 2019 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451727PMC
April 2019

Vitamin D Deficiency in Children With Newly Diagnosed Idiopathic Epilepsy.

J Child Neurol 2015 Oct 30;30(11):1428-32. Epub 2015 Jan 30.

Department of Pediatrics, Turgut Ozal University, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073814566627DOI Listing
October 2015

[Borderline cerebellar tonsillar ectopia in a child with headache. Case report].

Arch Argent Pediatr 2013 Jul-Aug;111(4):e86-8

Departamento de Radiología, Fatih University Medical School, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5546/aap.2013.e86DOI Listing
July 2014

Macular exanthema in a child with rotavirus gastroenteritis: a case report.

Arch Argent Pediatr 2014 Apr;112(2):e53-6

Departamento de Pediatría, Escuela de Medicina, Fatih University.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5546/aap.2014.e53DOI Listing
April 2014

The effects of topiramate and valproate therapy on insulin, c-peptide, leptin, neuropeptide Y, adiponectin, visfatin, and resistin levels in children with epilepsy.

Seizure 2013 Dec 9;22(10):856-61. Epub 2013 Aug 9.

Turgut Ozal University, Faculty of Medicine, Department of Child Neurology, Ankara, Turkey. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2013.07.007DOI Listing
December 2013

Blood levels of cytokines in children with idiopathic partial and generalized epilepsy.

Seizure 2013 Sep 25;22(7):517-21. Epub 2013 Apr 25.

Turgut Ozal University, Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2013.03.014DOI Listing
September 2013

Methylphenidate-induced acute orofacial and extremity dyskinesia.

J Child Neurol 2013 Jun 12;28(6):781-3. Epub 2012 Jul 12.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073812449905DOI Listing
June 2013

The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients.

J Child Neurol 2013 Mar 24;28(3):379-83. Epub 2012 Apr 24.

Department of Child Neurology, Fatih University, Faculty of Medicine, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073812441065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442636PMC
March 2013

Cerebral sinovenous thrombosis associated with MTHFR A1298C mutation in the newborn: a case report.

J Thromb Thrombolysis 2013 Feb;35(2):279-81

Division of Neonatology, Department of Pediatrics, Fatih University Medical School, Alparslan Turkes Caddesi No:57, Emek, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11239-012-0776-9DOI Listing
February 2013

Complementary and alternative medicine use in Turkish children with epilepsy.

Complement Ther Med 2012 Dec 13;20(6):441-6. Epub 2012 Aug 13.

Department of Pediatric Psychiatry, Karadeniz Technical University, Trabzon, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ctim.2012.07.006DOI Listing
December 2012

Parental-reported drug allergy in 6- to 9-yr-old urban schoolchildren.

Pediatr Allergy Immunol 2008 Feb 25;19(1):82-5. Epub 2007 Jul 25.

Department of Pediatrics, and Division of Pediatric Allergy, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1399-3038.2007.00592.xDOI Listing
February 2008

Atypical presentations of SSPE: a clinical study in four cases.

Turk J Pediatr 2007 Jul-Sep;49(3):295-300

Department of Pediatric Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.

View Article

Download full-text PDF

Source
January 2008

Chromosomal abnormalities in 457 Turkish patients with MCA/MR.

Turk J Pediatr 2006 Apr-Jun;48(2):130-4

Department of Medical Biology and Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.

View Article

Download full-text PDF

Source
August 2006

Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family.

J Child Neurol 2006 Apr;21(4):333-7

Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/08830738060210041601
Publisher Site
http://dx.doi.org/10.1177/08830738060210041601DOI Listing
April 2006

Effect of antiepileptic drugs on plasma lipids, lipoprotein (a), and liver enzymes.

J Child Neurol 2006 Jan;21(1):70-4

Department of Pediatrics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/08830738060210011301DOI Listing
January 2006

Retrospective evaluation of interferon-beta treatment in subacute sclerosing panencephalitis.

Clin Ther 2004 Nov;26(11):1890-4

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinthera.2004.11.002DOI Listing
November 2004

Benign acute childhood myositis.

Med Princ Pract 2004 Jul-Aug;13(4):227-9

Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, TR-61080 Trabzon, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000078323DOI Listing
September 2004

Brainstem encephalitis and acute disseminated encephalomyelitis following mumps.

Pediatr Neurol 2004 Feb;30(2):132-4

Department of Child Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2003.09.004DOI Listing
February 2004