Travaux scientifiques

Doç. Dr. Filiz Hazan

107 publications. La source de l’information est indiquée à côté de chaque publication.

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  1. Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-ofFunction Mutation

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2019

    DOI 10.4274/jcrpe.galenos.2019.2018.0230 PMID 30905142 5 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  2. Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

    Europe PMC (PubMed Central), 2018

    PMID 30838351 14 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  3. A Novel Inactivating Compound Heterozygous Mutation in KISS1R/GPR54: Cases of Three Siblings

    Hormone Research in Paediatrics, 2018

    Source : ORCID

  4. A novel EDA gene mutation in two Turkish brothers with X-linked hypohidrotic ectodermal dysplasia

    European Journal of Human Genetics, 2018

    Source : ORCID

  5. First Turkish Patient with Feingold Syndrome Type 2 with severe motor mental retardation, epilepsy

    European Journal of Human Genetics, 2018

    Source : ORCID

  6. Investigation of androgen receptor (AR) gene mutation spectrum in the turkish patients with disorder of sex development

    European Journal of Human Genetics, 2018

    Source : ORCID

  7. Phenotypic spectrum of CHARGE syndrome based on clinical characteristics

    Turkish Journal of Medical Sciences, 2018

    DOI 10.3906/sag-1611-107 PMID 30384553 Texte intégral en libre accèsSource : ORCID

  8. SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND

    Acta Endocrinology, 2018

    DOI 10.4183/aeb.2018.300 PMID 31149275 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  9. Child with RET proto-oncogene codon 634 mutation

    The Turkish Journal of Pediatrics, 2017

    DOI 10.24953/turkjped.2017.05.014 PMID 29745123 1 citation (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  10. HAX 1 mutation positive children presenting with haemophagocytic lymphohistiocytosis

    British Journal of Haematology, 2017

    DOI 10.1111/bjh.14574 PMID 28169428 10 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  11. Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report

    Archivos Argentinos de Pediatria, 2017

    DOI 10.5546/aap.2017.eng.e153 PMID 28504500 7 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  12. Combined use of genetic and immunohistochemical analysis is a critical step in differential diagnosis of sarcoglycanopathies

    Journal of Dr Behcet Uz Children s Hospital, 2017

    DOI 10.5222/buchd.2017.247 Texte intégral en libre accèsSource : OpenAlex

  13. A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

    Journal of Medical Genetics, 2017

    DOI 10.1136/jmedgenet-2016-104108 PMID 27707803 37 citations (Europe PMC) Source : ORCID

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

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2017

    DOI 10.4274/jcrpe.4225 PMID 28218067 11 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

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

    PubMed Central, 2017

    PMID 28878839 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  16. Sendromik veya İzole Kraniyosinostoz Öntanıları Olan Olgularda Saptanan FGFR2 Gen Mutasyonları

    2017

    Source : OpenAlex

  17. FATCO syndrome: a new case and review of the literature

    Pamukkale Medical Journal, 2016

    DOI 10.5505/ptd.2016.10327 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  18. A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel

    Journal of Pediatric Endocrinology and Metabolism, 2016

    DOI 10.1515/jpem-2015-0482 PMID 27544718 6 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  19. Association of Wolfram syndrome with Fallot tetralogy in a girl

    Archivos Argentinos de Pediatría, 2016

    DOI 10.5546/aap.2016.eng.e163 PMID 27164349 7 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

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

    The Indian Journal of Pediatrics, 2016

    DOI 10.1007/s12098-015-1998-6 PMID 26817465 11 citations (Europe PMC) Source : ORCID

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

    Archivos Argentinos de Pediatría, 2016

    DOI 10.5546/aap.2016.eng.e403 PMID 27869420 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  22. İkinci Trimester Sonografik Taramasında Multipl Yapısal Anomaliler Gösteren Trizomi 22 Olgusu ve Literatür Derlemesi

    DergiPark (Istanbul University), 2016

    1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

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

    55th ESPE Meeting, 2016

    Source : OpenAlex

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

    Bosnian Journal of Basic Medical Sciences, 2015

    DOI 10.17305/bjbms.2016.670 PMID 26773184 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  25. Chronic Neutropenia in Childhood

    Journal of Pediatric Hematology/Oncology, 2015

    DOI 10.1097/mph.0000000000000449 PMID 26479986 3 citations (OpenAlex) Source : OpenAlex

  26. Evaluation of familial mediterranean fever patients: a single center experience

    Pediatric Rheumatology, 2015

    DOI 10.1186/1546-0096-13-s1-p111 Texte intégral en libre accèsSource : OpenAlex

  27. OROFACIAL FINDINGS AND DENTAL MANAGEMENT OF WILLIAMS SYNDROME

    Genetic Counseling, 2015

    PMID 26852515 4 citations (OpenAlex) Source : ORCID

  28. SARCOLEMMAL DEFICIENCY OF SARCOGLYCAN COMPLEX IN AN 18-MONTH-OLD TURKISH BOY WITH A LARGE DELETION IN THE BETA SARCOGLYCAN GENE

    Balkan Journal of Medical Genetics, 2015

    DOI 10.1515/bjmg-2015-0088 PMID 27785400 3 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  29. 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

    European Journal of Medical Genetics, 2015

    DOI 10.1016/j.ejmg.2015.10.011 PMID 26518167 38 citations (Europe PMC) Source : ORCID

  30. Two different patterns of mini- puberty in two 46,XY newborns with 17β- hydroxysteroid dehydrogenase type 3 deficiency

    Journal of Pediatric Endocrinology and Metabolism, 2015

    DOI 10.1515/jpem-2014-0365 PMID 25879310 5 citations (Europe PMC) Source : ORCID

  31. A Case with Acrodysostosis and Hormone Resistance

    54th ESPE Meeting (ESPE 2015), 2015

    Source : OpenAlex

  32. Genetic Heterogeneity in Triple A Syndrome: Discrimination of the Classic Syndrome from Two Triple A-Like Syndromes

    54th ESPE Meeting (ESPE 2015), 2015

    Source : OpenAlex

  33. Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

    Case Reports in Genetics, 2014

    DOI 10.1155/2014/248561 PMID 25050186 6 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  34. G.P.225

    Neuromuscular Disorders, 2014

    DOI 10.1016/j.nmd.2014.06.301 Source : OpenAlex

  35. Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C,Kavşak tipi müsküler distrofi tip 2C hastalari{dotless}ni{dotless}n histopatolojik ve genetik özellikleri

    Turk Patoloji Dergisi Turkish Journal of Pathology, 2014

    DOI 10.5146/tjpath.2014.01239 PMID 24638197 4 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  36. G.P.224

    Neuromuscular Disorders, 2014

    DOI 10.1016/j.nmd.2014.06.300 Source : OpenAlex

  37. CHILDREN WITH RET PROTOONCOGENE CODON 634 MUTATION

    Pediatric Blood and Cancer, 2014

    Source : ORCID

  38. Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

    The American Journal of Human Genetics, 2014

    DOI 10.1016/j.ajhg.2014.10.014 PMID 25434003 61 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  39. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

    European Journal of Human Genetics, 2014

    DOI 10.1038/ejhg.2013.263 PMID 24281367 74 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  40. Sarcolemmal Alpha and Gamma Sarcoglycan Protein Deficiencies in Turkish Siblings With a Novel Missense Mutation in the Alpha Sarcoglycan Gene

    Pediatric Neurology, 2014

    DOI 10.1016/j.pediatrneurol.2013.12.024 PMID 24742800 9 citations (Europe PMC) Source : ORCID

  41. Sarcolemmal deficiency of sarcoglycan complex in an eighteen months old Turkish boy with a huge deletion in the beta sarcoglycan gene

    Neuromuscular Disorders, 2014

    DOI 10.1016/j.nmd.2014.06.302 Source : ORCID

  42. A Novel Mutation of the TRAPPC11 Gene Causes a Disease with Cerebral Atrophy, Global Retardation, Therapy Refractory Seizures, Achalasia, and Alacrima: A Triple A-Like Syndrome

    Neuropediatrics, 2014

    DOI 10.1055/s-0034-1390525 1 citation (OpenAlex) Source : OpenAlex

  43. A Case of Turner Syndrome with Concomitant Transient Hypogammaglobulinaemia of Infancy and Central Diabetes Insipidus

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2013

    DOI 10.4274/jcrpe.880 PMID 23419422 Texte intégral en libre accèsSource : ORCID

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

    Iranian Journal of Pediatrics, 2013

    PMID 24800029 Texte intégral en libre accèsSource : ORCID

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

    Molecular Vision, 2013

    PMID 23378733 15 citations (OpenAlex) Texte intégral en libre accèsSource : ORCID

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

    Clinical Dysmorphology, 2013

    DOI 10.1097/mcd.0b013e3283633831 PMID 23924873 2 citations (Europe PMC) Source : ORCID

  47. Attempted suicide with levothyroxine in an adolescent girl

    Journal of Pediatric Endocrinology and Metabolism, 2013

    DOI 10.1515/jpem-2012-0247 PMID 23457314 2 citations (Europe PMC) Source : ORCID

  48. Genetic approach to the patient and the family: A Rett Syndrome case with p.R270X mutation in MECP2 gene

    Turkish Journal of Biochemistry, 2013

    DOI 10.5505/tjb.2013.94547 Source : ORCID

  49. Genetic Approach to the Patient and the Family: A Rett Syndrome Case with R270X Mutation in MECP2 Gene

    Turkish Journal of Biochemistry, 2013

    DOI 10.5505/tjb.2013.07742 Source : OpenAlex

  50. Patau sendromlu üç olgu: Sendroma klinik triad (mikroftalmi, yarık dudak/ damak, polidaktili) her zaman eşlik eder mi?

    DergiPark (Istanbul University), 2013

    DOI 10.19161/etd.72401 Texte intégral en libre accèsSource : OpenAlex