Publications by authors named "Filiz Hazan"

36Publications

Do microdeletions lead to immune deficiency?

Cent Eur J Immunol 2020 ;45(1):69-72

Department of Pediatric Allergy and Immunology, Dr Behçet Uz Children's Hospital, Izmir, Turkey.

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http://dx.doi.org/10.5114/ceji.2020.94671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226555PMC
January 2020

Detection of Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

J Clin Res Pediatr Endocrinol 2020 11 16;12(4):358-365. Epub 2020 Apr 16.

Ege University Faculty of Medicine, Department of Pediatric Genetics, İzmir, Turkey

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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0001DOI Listing
November 2020

Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.

Mol Syndromol 2020 Jan 20;10(6):339-343. Epub 2019 Dec 20.

Department of Ophthalmology, Ege University School of Medicine, Izmir, Turkey.

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http://dx.doi.org/10.1159/000504829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995966PMC
January 2020

The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome.

Turk J Pediatr 2019 ;61(4):589-593

Departments of Medical Genetics, Dr. Behcet Uz Children's Hospital; İzmir, Turkey.

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http://dx.doi.org/10.24953/turkjped.2019.04.017DOI Listing
May 2020

Acrocallosal Syndrome First Presenting with Acute Lymphoblastic Leukemia: A Rare Case Report.

Neurol India 2019 Sep-Oct;67(5):1386-1387

Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey.

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http://dx.doi.org/10.4103/0028-3886.271244DOI Listing
June 2020

Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel Loss-of-Function Mutation

J Clin Res Pediatr Endocrinol 2019 11 25;11(4):444-448. Epub 2019 Mar 25.

Dr. Behçet Uz Pediatric Diseases and Surgery Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878343PMC
November 2019

A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.

Maedica (Bucur) 2017 Jan;12(1):55-58

Professor of Neurogenetics, Department of Medical Genetics, Motahrai Hospital, Urmia University of Medical Sciences, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574076PMC
January 2017

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents.

J Clin Res Pediatr Endocrinol 2017 Sep 20;9(3):216-221. Epub 2017 Feb 20.

Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey.

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http://dx.doi.org/10.4274/jcrpe.4225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596802PMC
September 2017

HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.

Br J Haematol 2017 05 7;177(4):597-600. Epub 2017 Feb 7.

Department of Paediatric Haematology-Oncology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.

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http://dx.doi.org/10.1111/bjh.14574DOI Listing
May 2017

Child with RET proto-oncogene codon 634 mutation.

Turk J Pediatr 2017 ;59(5):590-593

Departments of Pediatric Oncology, Dokuz Eylül University Faculty of Medicine.

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http://www.turkishjournalpediatrics.org/doi.php?doi=10.24953
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http://dx.doi.org/10.24953/turkjped.2017.05.014DOI Listing
January 2019

Trichorhinophalangeal syndrome type II presenting with short stature in a child.

Arch Argent Pediatr 2016 Dec;114(6):e403-e407

Ankara University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.

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http://dx.doi.org/10.5546/aap.2016.eng.e403DOI Listing
December 2016

Association of Wolfram syndrome with Fallot tetralogy in a girl.

Arch Argent Pediatr 2016 Jun 1;114(3):e163-6. Epub 2016 Jun 1.

Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatrics, Division of Pediatric Endocrinology, Izmir, Turkey.

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http://dx.doi.org/10.5546/aap.2016.eng.e163DOI Listing
June 2016

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

Indian J Pediatr 2016 Jun 28;83(6):517-21. Epub 2016 Jan 28.

Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, 35100, Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1007/s12098-015-1998-6DOI Listing
June 2016

The association between brain natriuretic peptide and tissue Doppler parameters in children with hypertrophic cardiomyopathy.

Bosn J Basic Med Sci 2016 Jan 1;16(1):58-63. Epub 2016 Jan 1.

Izmir Dr. Behçet Uz Children's Hopsital Department of Pediatric Cardiology, Izmir/Turkey.

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http://dx.doi.org/10.17305/bjbms.2016.670DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765941PMC
January 2016

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

Eur J Med Genet 2015 Dec 27;58(12):689-94. Epub 2015 Oct 27.

Ege University Faculty of Medicine, Medical Genetics, Izmir, Turkey; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.ejmg.2015.10.011DOI Listing
December 2015

Chronic Neutropenia in Childhood: Experience From a Single Center.

J Pediatr Hematol Oncol 2016 Jan;38(1):e35-8

Departments of *Pediatric Hematology and Oncology †Genetics, Dr Behçet Uz Children Research and Training Hospital, Izmir, Turkey.

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http://dx.doi.org/10.1097/MPH.0000000000000449DOI Listing
January 2016

Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene.

Case Rep Genet 2014 22;2014:248561. Epub 2014 Jun 22.

Medical Genetics Department, Duzen Laboratories, Istanbul, Turkey ; Medical Genetics Department, Duzen Laboratories, Ankara, Turkey ; Medical Genetics Department, Faculty of Medicine, Ankara University, 06100 Ankara, Turkey.

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http://dx.doi.org/10.1155/2014/248561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090428PMC
July 2014

A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome.

Iran J Pediatr 2013 Oct;23(5):608-9

Department of Medical Genetics, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006518PMC
October 2013

Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.

Pediatr Neurol 2014 Jun 25;50(6):640-7. Epub 2014 Jan 25.

Medical Genetics Department, Duzen Laboratories, Istanbul and Ankara, Turkey; Medical Genetics Department, Ankara University Medical School, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.12.024DOI Listing
June 2014

A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis.

Clin Dysmorphol 2013 Oct;22(4):140-2

aDepartment of Oral and Maxillofacial Surgery, Ege University Faculty of Dentistry bDepartment of Medical Genetics, Ege University Faculty of Medicine cDepartment of Medical Genetics, Dr Behcet Uz Children's Hospital dMolecular Genetics Laboratory, CSS-Mendel Institute, Rome, Italy eDepartment of Pediatric Hematology, Ege University Faculty of Medicine, Izmir fPediatric Hematology, Dr Behcet Uz Children's Hospital, Izmir, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e3283633831DOI Listing
October 2013

A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis.

Clin Dysmorphol 2013 Oct;22(4):140-2

aDepartment of Oral and Maxillofacial Surgery, Ege University Faculty of Dentistry bDepartment of Medical Genetics, Ege University Faculty of Medicine cDepartment of Medical Genetics, Dr Behcet Uz Children's Hospital dMolecular Genetics Laboratory, CSS-Mendel Institute, Rome, Italy eDepartment of Pediatric Hematology, Ege University Faculty of Medicine, Izmir fPediatric Hematology, Dr Behcet Uz Children's Hospital, Izmir, Turkey.

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http://dx.doi.org/10.1097/MCD.0b013e3283633831DOI Listing
October 2013

A case of Turner syndrome with concomitant transient hypogammaglobulinaemia of infancy and central diabetes insipidus.

J Clin Res Pediatr Endocrinol 2013 29;5(1):62-4. Epub 2013 Jun 29.

Dr Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatric Endocrinology, İzmir, Turkey.

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http://dx.doi.org/10.4274/Jcrpe.880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628396PMC
October 2013

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

Mol Vis 2013 29;19:196-202. Epub 2013 Jan 29.

Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559089PMC
September 2013

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

J Clin Res Pediatr Endocrinol 2012 Dec 12;4(4):220-2. Epub 2012 Nov 12.

Dr. Behçet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatric Endocrinology, İzmir, Turkey.

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http://dx.doi.org/10.4274/jcrpe.787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537291PMC
December 2012

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

Am J Med Genet A 2012 Jul 31;158A(7):1686-9. Epub 2012 May 31.

Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.35371
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35371DOI Listing
July 2012

Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings.

J Neurol 2009 Mar 14;256(3):416-9. Epub 2009 Mar 14.

Ege University, Faculty of Medicine, Dept. of Pediatrics, Divison of Genetics, 35100, Bornova, Izmir, Turkey.

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http://dx.doi.org/10.1007/s00415-009-0094-0DOI Listing
March 2009