Scientific work

Doç. Dr. Filiz Hazan

107 publications. The source of the information is stated next to each publication.

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  1. Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients

    Clinical Genetics, 2026

    DOI 10.1111/cge.70225 PMID 42618064 Source: OpenAlex

  2. A Rare Cause of Intellectual Disability: Novel Mutation of ALKBH8 Gene in Two Different Families and Review of the Literature

    American journal of medical genetics. Part A, 2026

    DOI 10.1002/ajmg.a.70341 PMID 42951831 Open-access full textSource: Europe PMC

  3. TRACK Syndrome Caused by Homozygous TSEN2 c.1100-5T>A Variant Presenting with Atypical Hemolytic Uremic Syndrome and Early End-Stage Kidney Disease

    Pediatric Practice and Research, 2026

    DOI 10.21765/pprjournal.1833482 Open-access full textSource: OpenAlex

  4. Retrovesical Hybrid Benign Peripheral Nerve Sheath Tumor with a Heterozygous Germline NF2 Deletion in a 12-Year-Old Boy: A Case Report

    Fetal and pediatric pathology, 2026

    DOI 10.1080/15513815.2026.2713539 PMID 42623304 Source: Europe PMC

  5. Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing

    Journal of pediatric endocrinology & metabolism : JPEM, 2026

    DOI 10.1515/jpem-2026-0119 PMID 42112595 1 citation (Europe PMC) Source: Europe PMC

  6. Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

    DOI 10.1007/s10072-026-09447-w PMID 42825826 Source: Europe PMC

  7. A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny–Caffey syndrome type 2

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2025-0584 PMID 41842913 Source: OpenAlex

  8. Clinical and molecular characterization of 5α-reductase deficiency type 2 in 13 patients: First report of a family with homozygous deletion in exon 1 of SRD5A2

    Archives de Pédiatrie, 2026

    DOI 10.1016/j.arcped.2026.105602 PMID 42636744 Source: OpenAlex

  9. A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28

    Molecular Syndromology, 2025

    DOI 10.1159/000549375 PMID 41404552 Open-access full textSource: OpenAlex

  10. The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes

    Pediatric Neurology, 2025

    DOI 10.1016/j.pediatrneurol.2025.01.016 PMID 39951932 1 citation (Europe PMC) Source: ORCID

  11. Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case

    BMC immunology, 2025

    DOI 10.1186/s12865-025-00774-9 PMID 41225329 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  12. Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes

    Molecular Syndromology, 2025

    DOI 10.1159/000546324 PMID 40620719 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  13. Challenges in the treatment and long-term follow-up results of children with resistance to thyroid hormone-sz

    Endocrine Abstracts, 2025

    DOI 10.1530/endoabs.110.p1211 Source: OpenAlex

  14. Hypoparathyroidism: clinical and genetic characteristics with long-term outcomes

    Endocrine Abstracts, 2025

    DOI 10.1530/endoabs.110.ep226 Source: OpenAlex

  15. A Rare Case of Cystic Hygroma and Familial Nystagmus in a Newborn with SHOC2 Gene Mutation

    Journal of Dr Behcet Uz Children s Hospital, 2025

    DOI 10.4274/jbuch.galenos.2025.95770 Open-access full textSource: OpenAlex

  16. SCOT Deficiency Mimicking Sepsis: An Unusual Cause of Increased Anion Gap Metabolic Acidosis

    Journal of Basic and Clinical Health Sciences, 2024

    DOI 10.30621/jbachs.1217436 Open-access full textSource: ORCID

  17. A rare case of skeletal dysplasia: biallelic variant in <i>ACAN</i> gene

    Journal of pediatric endocrinology & metabolism : JPEM, 2024

    DOI 10.1515/jpem-2024-0255 PMID 39295451 Source: Europe PMC

  18. Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants

    European Journal of Pediatrics, 2024

    DOI 10.1007/s00431-024-05825-8 PMID 39725732 4 citations (OpenAlex) Source: OpenAlex

  19. Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development

    Journal of Pediatric Endocrinology and Metabolism, 2024

    DOI 10.1515/jpem-2023-0551 PMID 38650427 2 citations (OpenAlex) Source: OpenAlex

  20. A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome

    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2023

    DOI 10.1002/jdn.10280 PMID 37336770 3 citations (Europe PMC) Open-access full textSource: Europe PMC

  21. Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes

    Archives of Endocrinology and Metabolism, 2023

    DOI 10.20945/2359-4292-2022-0254 PMID 37948564 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  22. Genetic and clinical characteristics of Turkish children with Maturity Onset Diabetes of the Young Type 2 (MODY2): A single center experience

    Interdisciplinary Medical Journal, 2023

    DOI 10.17944/interdiscip.1285735 Open-access full textSource: OpenAlex

  23. A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene

    Sisli Etfal Hastanesi tip bulteni, 2022

    DOI 10.14744/semb.2021.88964 PMID 35515972 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  24. A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

    Frontiers in Genetics, 2022

    DOI 10.3389/fgene.2022.938814 PMID 35812760 2 citations (Europe PMC) Open-access full textSource: ORCID

  25. Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1

    Sisli Etfal Hastanesi Tip Bülteni, 2022

    DOI 10.14744/semb.2021.28044 PMID 35990289 1 citation (Europe PMC) Open-access full textSource: ORCID

  26. Dysosteosclerosis is also caused by null mutations of TNFRSF11A

    Hormone Research in Paediatrics, 2022

    Source: ORCID

  27. Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them

    Psychiatric Genetics, 2022

    DOI 10.1097/ypg.0000000000000323 PMID 36125370 4 citations (Europe PMC) Source: ORCID

  28. Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7

    Journal of Endocrinological Investigation, 2022

    DOI 10.1007/s40618-021-01706-1 PMID 34780050 9 citations (Europe PMC) Source: ORCID

  29. Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing

    Journal of Pediatric Endocrinology and Metabolism, 2022

    DOI 10.1515/jpem-2022-0027 PMID 35801948 12 citations (Europe PMC) Source: ORCID

  30. Two different syndromic craniosynostosis in the same family

    European Journal of Human Genetics, 2022

    Source: ORCID

  31. Evaluation of the Clinical and Laboratory Findings of Patients with Chromosome 22q11.2 Deletion Syndrome

    Turkiye Klinikleri Journal of Pediatrics, 2021

    DOI 10.5336/pediatr.2021-81283 Open-access full textSource: OpenAlex

  32. Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants

    Neurological Sciences, 2021

    DOI 10.1007/s10072-020-04988-0 PMID 33443663 1 citation (Europe PMC) Source: ORCID

  33. Clinical Evaluation of Patients with Classical Rett Syndrome and MECP2 Gene Analysis

    Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, 2021

    DOI 10.5505/deutfd.2021.50133 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  34. Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature

    Advanced Biomedicine, 2021

    DOI 10.54730/abm.2021.030405 Open-access full textSource: OpenAlex

  35. Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation

    Molecular Syndromology, 2021

    DOI 10.1159/000515697 PMID 34602953 6 citations (Europe PMC) Open-access full textSource: ORCID

  36. Identification of two AMH gene variants in two unrelated patients with persistent Mullerian duct syndrome: one novel variant

    Gynecological Endocrinology, 2021

    DOI 10.1080/09513590.2021.1908253 PMID 33787423 2 citations (Europe PMC) Source: ORCID

  37. Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study

    The Journal of Pediatric Research, 2021

    DOI 10.4274/jpr.galenos.2021.10179 2 citations (OpenAlex) Open-access full textSource: ORCID

  38. Association of arms2 gene rs10490924 and htra1 gene rs11200638 polymorphisms with exudative age-related macular degeneration in western aegean population of turkey

    Journal of Retina-Vitreous, 2021

    DOI 10.37845/ret.vit.2021.30.31 Source: OpenAlex

  39. Do microdeletions lead to immune deficiency?

    Central European Journal of Immunology, 2020

    DOI 10.5114/ceji.2020.94671 PMID 32425682 5 citations (OpenAlex) Open-access full textSource: OpenAlex

  40. TGM1 mutation spectrum in patients with lamellar ichthyosis

    European Journal of Human Genetics, 2020

    Source: ORCID

  41. A novel PGAP3 mutation in two siblings with hyperphosphatasia with mental retardation syndrome

    European Journal of Human Genetics, 2020

    Source: ORCID

  42. A novel mutation in WDR62 gene in a patient who had autosomal recessive primary microcephaly with concomitant sarcoglycanopathy

    European Journal of Human Genetics, 2020

    Source: ORCID

  43. CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutations

    Turk Dermatoloji Dergisi, 2020

    DOI 10.4103/tjd.tjd_91_20 Open-access full textSource: ORCID

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

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2020

    DOI 10.4274/jcrpe.galenos.2020.2019.0001 PMID 32295321 19 citations (Europe PMC) Open-access full textSource: ORCID

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

    Molecular Syndromology, 2020

    DOI 10.1159/000504829 PMID 32021609 11 citations (Europe PMC) Open-access full textSource: ORCID

  46. Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study

    Journal of Clinical Pediatric Dentistry, 2020

    DOI 10.17796/1053-4625-44.4.8 PMID 33167018 7 citations (Europe PMC) Source: ORCID

  47. Detection of SHOX Gene Variations in Patients Who Had Skeletal Abnormalities With/Without Short Stature

    Journal of Clinical Research in Pediatric Endocrinology, 2020

    DOI 10.4274/jcrpe.galenos.2020.2020.0001 Open-access full textSource: OpenAlex

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

    Neurology India, 2019

    DOI 10.4103/0028-3886.271244 PMID 31744987 Source: OpenAlex

  49. Early Onset Monogenic Obesity: Two Cases with Homozygous Mutation in Lepr Gene

    Hormone Research in Paediatrics, 2019

    Source: ORCID

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

    Turkish Journal of Pediatrics, 2019

    DOI 10.24953/turkjped.2019.04.017 PMID 31990478 1 citation (Europe PMC) Open-access full textSource: ORCID