Publications by authors named "Bulent Kara"

49Publications

Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.

Rheumatol Int 2020 Nov 20;40(11):1903-1910. Epub 2020 Jul 20.

Department of Pediatric Rheumatology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00296-020-04653-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7369505PMC
November 2020

Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1.

Seizure 2020 08 16;80:181-182. Epub 2020 Jun 16.

İstanbul Bezm-i Alem University, Department of Medical Genetics, İstanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2020.06.022DOI Listing
August 2020

Acute ophthalmoparesis and persistent mydriasis: expanding the clinical spectrum of anti-GQ1b positive cranial neuropathy in a 5.5-year-old girl.

Turk J Pediatr 2019 ;61(5):794-797

Division of Child Neurology, Department of Pediatrics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2019.05.023DOI Listing
August 2020

FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.

Clin Genet 2019 11 6;96(5):456-460. Epub 2019 Aug 6.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13612DOI Listing
November 2019

The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.

Clin EEG Neurosci 2018 May 23;49(3):192-196. Epub 2017 Apr 23.

1 Departments of Neurology and Clinical Neurophysiology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/1550059417705280
Publisher Site
http://dx.doi.org/10.1177/1550059417705280DOI Listing
May 2018

Long-term clinical and radiologic follow-up of Schilder's disease.

Mult Scler Relat Disord 2017 Apr 12;13:47-51. Epub 2017 Feb 12.

Department of Radiology, Kocaeli University Medical Faculty, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.msard.2017.02.007DOI Listing
April 2017

Head Circumference Charts for Turkish Children Aged Five to Eighteen Years.

Noro Psikiyatr Ars 2016 Mar 1;53(1):55-62. Epub 2016 Mar 1.

Boğaziçi University Institute of Social Sciences, İstanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5152/npa.2015.10202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353239PMC
March 2016

Neonatal sepsis and simple minor neurological dysfunction.

Pediatr Int 2017 May 21;59(5):564-569. Epub 2017 Feb 21.

Division of Neonatology, Department of Pediatrics, Kocaeli University Medical School, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ped.13217DOI Listing
May 2017

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.

Neuromuscul Disord 2016 11 6;26(11):796-800. Epub 2016 Sep 6.

Division of Pediatric Neurology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2016.09.001DOI Listing
November 2016

Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation.

Turk J Pediatr 2015 Sep-Oct;57(5):504-8

Division of Child Neurology, Department of Pediatrics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
September 2017

SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.

Seizure 2016 Jul 19;39:34-43. Epub 2016 May 19.

Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2016.05.008DOI Listing
July 2016

Clinical outcomes in children with herpes simplex encephalitis receiving steroid therapy.

J Clin Virol 2016 07 11;80:87-92. Epub 2016 May 11.

Department of Pediatrics, Division of Pediatric Neurology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcv.2016.05.002DOI Listing
July 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Adult phenotype and further phenotypic variability in SRD5A3-CDG.

BMC Med Genet 2014 Jan 16;15:10. Epub 2014 Jan 16.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-15-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898029PMC
January 2014

Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.

Turk J Pediatr 2013 Mar-Apr;55(2):198-202

Division of Pediatric Hematology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
December 2013

Fine motor skills in children with rolandic epilepsy.

Epilepsy Behav 2013 Nov 5;29(2):322-5. Epub 2013 Sep 5.

Sakarya University Training and Research Hospital, Child and Adolescent Psychiatry Outpatient Clinic, Sakarya, Turkey. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2013.07.033DOI Listing
November 2013

Psychiatric and Neurocognitive Evaluation Focused on Frontal Lobe Functions in Rolandic Epilepsy.

Noro Psikiyatr Ars 2013 Sep 1;50(3):209-215. Epub 2013 Sep 1.

Kocaeli University Medical Faculty, Department of Pediatrics, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4274/npa.y6226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363437PMC
September 2013

Seropositive neuromyelitis optica: a pediatric case report and 6-year follow-up.

Pediatr Neurol 2013 Sep 4;49(3):198-202. Epub 2013 Jul 4.

Department of Pediatrics, Division of Child Neurology, Kocaeli University Medical Faculty, Umuttepe, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2013.02.008DOI Listing
September 2013

Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.

Mol Genet Metab 2012 Nov 10;107(3):389-93. Epub 2012 Jul 10.

Medical Faculty, Deparment of Pediatrics, Division of Child Neurology, Kocaeli University, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.06.013DOI Listing
November 2012

Clinical features of nine patients with alternating hemiplegia of childhood.

J Paediatr Child Health 2011 Oct 30;47(10):734-6. Epub 2011 Mar 30.

Department of Pediatric Neurology, Istanbul Medical Faculty, Fatih, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1440-1754.2011.02042.xDOI Listing
October 2011

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.

Hum Mol Genet 2011 May 17;20(10):1886-92. Epub 2011 Feb 17.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul 34342, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddr070DOI Listing
May 2011

Botulinum toxin for the correction of asymmetric crying facies.

Aesthet Surg J 2009 Nov-Dec;29(6):524-7

Department of Plastic, Reconstructive and Aesthetic Surgery, University School of Medicine, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://asj.oxfordjournals.org/content/asj/29/6/524.full.pdf
Web Search
http://dx.doi.org/10.1016/j.asj.2009.08.017DOI Listing
March 2010

Cerebral vasculitis and obsessive-compulsive disorder following varicella infection in childhood.

Turk J Pediatr 2009 Jan-Feb;51(1):72-5

Department of Pediatrics, Dicle University Faculty of Medicine, Diyarbakir, Turkey.

View Article

Download full-text PDF

Source
May 2009

Ataxia with vitamin E deficiency associated with deafness.

Turk J Pediatr 2008 Sep-Oct;50(5):471-5

Department of Pediatrics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.

View Article

Download full-text PDF

Source
January 2009

Response to rituximab and prednisolone for opsoclonus-myoclonus-ataxia syndrome in a child with ganglioneuroblastoma.

Pediatr Hematol Oncol 2008 Dec;25(8):756-61

Department of Pediatric Oncology, Kocaeli University, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08880010802341690DOI Listing
December 2008

Epidermal nevus syndrome with azygos anterior cerebral artery.

Pediatr Neurol 2008 Oct;39(4):283-5

Department of Pediatrics, Kocaeli University Faculty of Medicine, Umuttepe, Izmit, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2008.06.016DOI Listing
October 2008

Angelman syndrome: clinical findings and follow-up data of 14 patients.

Turk J Pediatr 2008 Mar-Apr;50(2):137-42

Department of Pediatrics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
September 2008

Hashimoto's encephalopathy in a ten-year-old girl.

Turk J Pediatr 2007 Apr-Jun;49(2):215-7

Department of Pediatrics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
November 2007

Transient peripheral leukocytosis in children with afebrile seizures.

J Child Neurol 2007 Jan;22(1):77-9

Department of Pediatrics, Kocaeli University, Istanbul, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073807299961DOI Listing
January 2007

Is there a role for the family and close community to help reduce the risk of postpartum depression in new mothers? A cross-sectional study of Turkish women.

Matern Child Health J 2008 Mar 6;12(2):155-61. Epub 2007 Jun 6.

Department of Pediatrics, Medicine Faculty, Kocaeli University, Derince, Kocaeli 41900, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10995-007-0232-1DOI Listing
March 2008

The treatment of psychogenic polydipsia with risperidone in two children diagnosed with schizophrenia.

J Child Adolesc Psychopharmacol 2006 Aug;16(4):492-5

Department of Child and Adolescent Psychiatry, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/cap.2006.16.492DOI Listing
August 2006

The prevalence of anemia in adolescents: a study from Turkey.

J Pediatr Hematol Oncol 2006 May;28(5):316-21

Department of Pediatrics, Faculty of Medicine, Kocaeli University, Derince, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.mph.0000212918.31674.e2DOI Listing
May 2006

Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome.

Pediatr Neurol 2006 Jun;34(6):478-80

Department of Pediatrics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2005.11.006DOI Listing
June 2006

Neuro-Behçet disease presenting as secondary pseudotumor syndrome: case report.

Eur J Paediatr Neurol 2006 Mar 3;10(2):97-9. Epub 2006 Apr 3.

Istanbul University, Faculty of medicine, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2006.02.003DOI Listing
March 2006

Neuro-Behçet syndrome presenting as acute meningeal syndrome.

J Infect 2006 Apr 28;52(4):e120-3. Epub 2005 Sep 28.

Pediatrics, Kocaeli University Medicine Faculty, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jinf.2005.07.026DOI Listing
April 2006

Subclinical vitamin D deficiency is increased in adolescent girls who wear concealing clothing.

J Nutr 2005 Feb;135(2):218-22

Department of Pediatrics, Kocaeli University School of Medicine, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jn/135.2.218DOI Listing
February 2005

Intravenous cyclophosphamide is the drug of choice for steroid dependent nephrotic syndrome.

Pediatr Int 2003 Feb;45(1):65-7

Kocaeli University Hospital, Department of Pediatric Nephrology, Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1442-200x.2003.01673.xDOI Listing
February 2003