Publications by authors named "Gozde Yesil"

56Publications

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria.

Turk Pediatri Ars 2020 23;55(3):290-298. Epub 2020 Sep 23.

Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.

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http://dx.doi.org/10.14744/TurkPediatriArs.2019.06926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536460PMC
September 2020

Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimicking ATM-mutated patients.

Pediatr Allergy Immunol 2020 Oct 4. Epub 2020 Oct 4.

Division of Pediatric Allergy-Immunology, Faculty of Medicine, Marmara University, Istanbul, Turkey.

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http://dx.doi.org/10.1111/pai.13387DOI Listing
October 2020

Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.

J Allergy Clin Immunol Pract 2020 Jul 28. Epub 2020 Jul 28.

Faculty of Medicine, Pediatric Allergy-Immunology, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2020.07.030DOI Listing
July 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.

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

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.

Neuropediatrics 2020 May 5. Epub 2020 May 5.

Department of Medical Genetics, Faculty of Medicine, Bezmialem Vakıf University, Istanbul, Turkey.

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http://dx.doi.org/10.1055/s-0040-1710526DOI Listing
May 2020

A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.

Horm Res Paediatr 2019 28;92(6):395-403. Epub 2020 Apr 28.

Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000506740DOI Listing
July 2020

Correlation Between DTI Findings and Volume of Corpus Callosum in Children with AUTISM.

Curr Med Imaging Rev 2019;15(9):895-899

Department of Radiology, School of Medicine, Bezmialem Vakif University, Istanbul, Turkey.

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http://dx.doi.org/10.2174/1573405614666181005114315DOI Listing
January 2019

A rare cause of hypertension in childhood: Answers.

Pediatr Nephrol 2020 01 20;35(1):79-82. Epub 2019 Sep 20.

Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Fevzi Çakmak Mahallesi, Muhsin Yazıcıoğlu Caddesi, No: 10 34899 Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04329-0DOI Listing
January 2020

A rare cause of hypertension in childhood: Questions.

Pediatr Nephrol 2020 01 20;35(1):77-78. Epub 2019 Sep 20.

Department of Pediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Fevzi Çakmak Mahallesi, Muhsin Yazıcıoğlu Caddesi, No:10 34899 Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04326-3DOI Listing
January 2020

Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers.

Pediatr Nephrol 2020 03 16;35(3):405-407. Epub 2019 Sep 16.

School of Medicine, Department of Pediatric Endocrinology and Diabetes, Marmara University, Fevzi Çakmak Mahallesi, Muhsin Yazıcıoğlu Caddesi, No:10 34899 Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04352-1DOI Listing
March 2020

Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions.

Pediatr Nephrol 2020 03 16;35(3):403-404. Epub 2019 Sep 16.

School of Medicine, Department of Pediatric Endocrinology and Diabetes, Marmara University, Fevzi Çakmak Mahallesi, Muhsin Yazıcıoğlu Caddesi, No:10 34899 Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04351-2DOI Listing
March 2020

Vanishing white matter disease with different faces.

Childs Nerv Syst 2020 02 5;36(2):353-361. Epub 2019 Aug 5.

Department of Pediatric Neurology, Marash Life Hospital, Kahramanmaraş, Turkey.

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http://dx.doi.org/10.1007/s00381-019-04334-6DOI Listing
February 2020

Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.

Hormones (Athens) 2019 Jun 12;18(2):229-236. Epub 2019 Feb 12.

Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s42000-019-00096-7DOI Listing
June 2019

Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up.

Clin Neurol Neurosurg 2018 08 19;171:190-193. Epub 2018 Jun 19.

Department of Pediatric Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, 34093, Turkey.

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http://dx.doi.org/10.1016/j.clineuro.2018.06.023DOI Listing
August 2018

Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in .

Mol Syndromol 2018 May 24;9(3):134-140. Epub 2018 Apr 24.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000488438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006654PMC
May 2018

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

Turk J Pediatr 2017 ;59(3):329-334

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

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http://dx.doi.org/10.24953/turkjped.2017.03.016DOI Listing
December 2018

Familial amyloid polyneuropathy due to p.ALA140 SER mutation.

Neurol India 2018 Jan-Feb;66(1):238-241

Department of Pathology, Bezmialem Vakif University, Istanbul, Turkey.

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http://dx.doi.org/10.4103/0028-3886.222879DOI Listing
September 2019

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.

Gene 2018 Feb 21;642:398-407. Epub 2017 Nov 21.

Department of Medical Genetics, BezmialemVakif University, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.gene.2017.11.052DOI Listing
February 2018

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.

Clin Neurol Neurosurg 2018 01 21;164:47-49. Epub 2017 Nov 21.

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

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http://dx.doi.org/10.1016/j.clineuro.2017.11.008DOI Listing
January 2018

Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey.

Acta Neurol Belg 2019 Sep 22;119(3):343-350. Epub 2017 Oct 22.

Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, 34098, Istanbul, Turkey.

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http://link.springer.com/10.1007/s13760-017-0851-2
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http://dx.doi.org/10.1007/s13760-017-0851-2DOI Listing
September 2019

A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood.

Seizure 2017 Oct 27;51:77-79. Epub 2017 Jul 27.

Division of Pediatric Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2017.07.011DOI Listing
October 2017

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Balkan Med J 2017 12 29;34(6):522-526. Epub 2017 May 29.

Clinic of Pediatric Endocrinology and Metabolic Diseases, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey.

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http://balkanmedicaljournal.org/pdf.php?&id=1893
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http://dx.doi.org/10.4274/balkanmedj.2015.1717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785656PMC
December 2017

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.

Turk J Pediatr 2017 ;59(5):601-603

Department of Genetics, Bezmialem Vakıf University, School of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.24953/turkjped.2017.05.017DOI Listing
January 2019

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

Am J Med Genet A 2016 06 13;170(6):1391-9. Epub 2016 Apr 13.

Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.37652DOI Listing
June 2016

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Am J Hum Genet 2016 Mar;98(3):562-570

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.

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http://www.cell.com/ajhg/pdf/S0002-9297(16)00017-3.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971600017
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http://dx.doi.org/10.1016/j.ajhg.2016.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800043PMC
March 2016

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

Clin Immunol 2016 Apr 23;165:1-3. Epub 2016 Feb 23.

Marmara University, Division of Pediatric Allergy/Immunology, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2016.02.008DOI Listing
April 2016

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

MRI and MRS findings in fucosidosis; a rare lysosomal storage disease.

Brain Dev 2016 Apr 26;38(4):435-8. Epub 2015 Oct 26.

Department of Radiology, Bezmialem Vakif University, İstanbul, Turkey.

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http://dx.doi.org/10.1016/j.braindev.2015.09.013DOI Listing
April 2016

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

J Clin Endocrinol Metab 2015 May 16;100(5):E808-14. Epub 2015 Mar 16.

Department of Molecular and Human Genetics (Y.B., T.Ga., M.M.A., E.K., D.P., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Medicine, Division of Medical Genetics (S.G., H.U.G., S.B.P., M.L., T.W., M.-C.K.), University of Washington, Seattle, Washington 98195; Department of Pediatric Endocrinology and Diabetes (T.Gu., Z.A., S.T., A.Be.), Marmara University Hospital, Istanbul, Turkey 34899; Department of Pediatric Endocrinology (A.Ab., E.Bob., A.Bu.), Dokuz Eylül University Faculty of Medicine, Izmir, Turkey 35340; Department of Medical Genetics (G.Y.), Bezmialem University, Istanbul, Turkey 34093; Human Genome Sequencing Center (S.N.J., D.M., E.Boe., R.A.G.), Baylor College of Medicine, Houston, Texas 77030; Human Genetics Center (E.Boe.), University of Texas Health Science Center at Houston, Houston, Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2015-1150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422898PMC
May 2015

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Nat Genet 2015 Jan 24;47(1):73-7. Epub 2014 Nov 24.

1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.

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http://www.nature.com/articles/ng.3153
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http://dx.doi.org/10.1038/ng.3153DOI Listing
January 2015

Comparison of metabolic profile and abdominal fat distribution between karyotypically normal women with premature ovarian insufficiency and age matched controls.

Maturitas 2014 Nov 16;79(3):306-10. Epub 2014 Jul 16.

Department of Radiology, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.maturitas.2014.07.008DOI Listing
November 2014

Stuve-Wiedemann syndrome: is it underrecognized?

Am J Med Genet A 2014 Sep 2;164A(9):2200-5. Epub 2014 Jul 2.

Department of Medical Genetics, Bezmialem Vakif University of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36626DOI Listing
September 2014

Report of a patient with Temple-Baraitser syndrome.

Am J Med Genet A 2014 Mar 19;164A(3):848-51. Epub 2013 Dec 19.

Department of Medical Genetics, Bezmialem Vakif University Medicine, Istanbul, Fatih, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36344DOI Listing
March 2014

The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children.

Mol Biol Rep 2014 Jan 10;41(1):331-6. Epub 2013 Nov 10.

Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s11033-013-2866-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877425PMC
January 2014

Congenital agenesis of scrotum and labia majora in siblings.

Urology 2013 Feb;81(2):421-3

Department of Urology, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.urology.2012.10.019DOI Listing
February 2013

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

Neuropediatrics 2012 Jun 19;43(3):159-61. Epub 2012 May 19.

Istanbul University, Cerrahpasa Medical Faculty, Department of Neurology, Division of Child Neurology, Istanbul, Turkey.

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http://dx.doi.org/10.1055/s-0032-1313912DOI Listing
June 2012

An infant with spinal muscular atrophy and tetrology of Fallot.

Clin Neurol Neurosurg 2012 Sep 25;114(7):1033-4. Epub 2012 Feb 25.

Department of Pediatric Neurology, Istanbul Medical Faculty, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S03038467120008
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http://dx.doi.org/10.1016/j.clineuro.2012.01.049DOI Listing
September 2012

Restrictive dermopathy in a Turkish newborn.

Pediatr Dermatol 2011 Jul-Aug;28(4):408-11. Epub 2010 Dec 2.

Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1111/j.1525-1470.2010.01296.xDOI Listing
December 2011

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.

Turk J Pediatr 2009 May-Jun;51(3):301-4

Department of Pediatrics, Bakirköy Training Hospital, Istanbul, Turkey.

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October 2009

Warburg Micro syndrome in a Turkish boy.

Clin Dysmorphol 2007 Apr;16(2):89-93

Department of Medical Genetics, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey.

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https://insights.ovid.com/crossref?an=00019605-200704000-000
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http://dx.doi.org/10.1097/MCD.0b013e328054c404DOI Listing
April 2007

Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.

Pediatr Neurol 2006 Jun;34(6):486-9

Department of Medical Genetic, Division of Pediatric Neurology, Cerrahpaşa Medical Faculty, Istanbul University, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.10.020DOI Listing
June 2006