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SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion

KARAOSMANOĞLU B., İMREN G., Ozisin M. S., REÇBER T., ŞİMŞEK KİPER P. Ö., Haliloglu G., et al.
MOLECULAR BIOLOGY REPORTS , sa.1, 2024 (SCI-Expanded) identifier identifier

Microfluidic Fabrication of Gelatin-Nano Hydroxyapatite Scaffolds for Enhanced Control of Pore Size Distribution and Osteogenic Differentiation of Dental Pulp Stem Cells

BAYRAM C., ÖZTÜRK Ş., KARAOSMANOĞLU B., GÜLTEKİNOĞLU BAYRAM M., TAŞKIRAN Z. E., ULUBAYRAM K., et al.
MACROMOLECULAR BIOSCIENCE , 2024 (SCI-Expanded) identifier identifier

Allele-specific antisense oligonucleotides for the treatment of BEST1-Related dominantly inherited retinal diseases: An in vitro model

Karaosmanoğlu B., Imren G., Utine E., Sekeroglu H. T., Taskiran E.
EXPERIMENTAL EYE RESEARCH , cilt.241, ss.1, 2024 (SCI-Expanded) identifier identifier

Biomedical Efficacy of Garlic-Extract-Loaded Core-Sheath Plasters for Natural Antimicrobial Wound Care

Majd H., GÜLTEKİNOĞLU BAYRAM M., BAYRAM C., KARAOSMANOĞLU B., Taşkıran E. Z., KART D., et al.
Macromolecular Materials and Engineering , 2024 (SCI-Expanded) identifier

CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case

SOYER T., BOYBEYİ TÜRER Ö., KARAOSMANOĞLU B., Taşkıran E., Şimşek Ö. P., ÜTİNE G. E.
Birth Defects Research , cilt.116, sa.1, 2024 (SCI-Expanded) identifier identifier

Acquired immune resistance is associated with interferon signature and modulation of KLF6/c-MYB transcription factors in myeloid leukemia

Parveen M., KARAOSMANOĞLU B., SUCULARLI C., ÜNER A., TAŞKIRAN Z. E., ESENDAĞLI G.
European Journal of Immunology , 2024 (SCI-Expanded) identifier identifier

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

Güleray Lafcl N., KARAOSMANOĞLU B., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E.
Molecular Syndromology , cilt.14, sa.3, ss.258-265, 2023 (SCI-Expanded) identifier identifier identifier

Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature

Demir E., TUNA KIRSAÇLIOĞLU C., SALTIK TEMİZEL İ. N., ÜREL DEMİR G., KARAOSMANOĞLU B., Taşkiran E. Z., et al.
Clinical Dysmorphology , cilt.32, sa.2, ss.88-91, 2023 (SCI-Expanded) identifier identifier identifier

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

AKALIN A., ŞİMŞEK KİPER P. Ö., Taşkıran E. Z., KARAOSMANOĞLU B., ÜTİNE G. E., BODUROĞLU O. K.
American Journal of Medical Genetics, Part A , cilt.191, sa.4, ss.1119-1127, 2023 (SCI-Expanded) identifier identifier identifier

Pro-fibrogenic and adipogenic aspects of chronic muscle degeneration are contributed by distinct stromal cell subpopulations

ÖZDEMİR SAKA C., Akçay D., Yöyen-Ermiş D., Taşkıran E. Z., Soylu-Kucharz R., ESENDAĞLI G., et al.
PloS one , cilt.18, sa.7, 2023 (SCI-Expanded) Creative Commons License identifier identifier

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions

AKALIN A., Simsek-Kiper P. O., Taskiran E., ÜTİNE G. E., BODUROĞLU O. K.
MOLECULAR SYNDROMOLOGY , cilt.13, sa.6, ss.537-542, 2023 (SCI-Expanded) identifier identifier identifier

A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy

Dasar T., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., ÇAĞAN M., ÖZYÜNCÜ Ö., DEREN Ö., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.65, sa.12, 2022 (SCI-Expanded) identifier identifier identifier

Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3

ŞİMŞEK KİPER P. Ö., Jacob P., Upadhyai P., TAŞKIRAN Z. E., Guleria V. S., KARAOSMANOĞLU B., et al.
HUMAN MUTATION , cilt.43, sa.12, ss.2116-2129, 2022 (SCI-Expanded) identifier identifier identifier

Effector Th1 cells under PD-1 and CTLA-4 checkpoint blockade abrogate the upregulation of multiple inhibitory receptors and by-pass exhaustion

Horzum U., Yanik H., Taskiran E. Z., Esendagli G.
IMMUNOLOGY , cilt.167, sa.4, ss.640-650, 2022 (SCI-Expanded) identifier identifier identifier

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

Güleray N., Koşukcu C., Oğuz S., Ürel Demir G., Taşkıran E. Z., Kiper P. Ö. Ş., et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL , cilt.59, sa.9, ss.1114-1124, 2022 (SCI-Expanded) identifier identifier identifier

De novo cloning and functional characterization of potassium channel genes and proteins in the crayfish Astacus leptodactylus (Eschscholtz, 1823) (Decapoda: Astacidea: Astacidae)

ERGİN B., SAĞLAM B., TAŞKIRAN Z. E., BAŞTUĞ T., PURALI N.
JOURNAL OF CRUSTACEAN BIOLOGY , cilt.42, sa.1, 2022 (SCI-Expanded) identifier identifier

Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis

Carmona E. G., Garcia-Gimenez J. A., Lopez-Mejias R., Khor C. C., Lee J., Taskiran E., et al.
RHEUMATOLOGY , cilt.61, sa.3, ss.1204-1210, 2022 (SCI-Expanded) identifier identifier identifier

Small cell lung cancer stem cells display mesenchymal properties and exploit immune checkpoint pathways in activated cytotoxic T lymphocytes

KURŞUNEL M. A., Taskiran E. Z., Tavukcuoglu E., Yanik H., Demirag F., KARAOSMANOĞLU B., et al.
CANCER IMMUNOLOGY IMMUNOTHERAPY , cilt.71, sa.2, ss.445-459, 2022 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings

SOYER T., KARAOSMANOĞLU B., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., KARNAK İ., BODUROĞLU O. K., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.11, ss.3427-3432, 2021 (SCI-Expanded) identifier identifier identifier

Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature

AKALIN A., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., Utine E., ALANAY Y., Ozcelik U., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.10, ss.3104-3110, 2021 (SCI-Expanded) identifier identifier identifier

Kohlschutter-Tonz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., Taskiran E., Schossig A., ÜTİNE G. E., Zschocke J., et al.
JOURNAL OF CHILD NEUROLOGY , cilt.36, sa.10, ss.816-822, 2021 (SCI-Expanded) identifier identifier identifier

Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability

Taşkıran Z. E., Karaosmanoglu B., Kosukcu C., Urel-Demir G., Akgun-Dogan O., Simsek-Kiper P. O., et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH , cilt.65, sa.6, ss.577-588, 2021 (SSCI) identifier identifier identifier

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!

Schuch L. A., Forstner M., Rapp C. K., Li Y., Smith D. E. C., Mendes M., et al.
CLINICAL GENETICS , cilt.99, sa.6, ss.789-801, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

KINDIŞ E., ŞİMŞEK KİPER P. Ö., KOŞUKCU C., TAŞKIRAN Z. E., GÖÇMEN R., Utine E., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, ss.1888-1896, 2021 (SCI-Expanded) identifier identifier identifier

Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature

KARAOSMANOĞLU B., KURŞUNEL M. A., ÇETİNKAYA F. D., GÜMRÜK F., ESENDAĞLI G., ÜNAL Ş., et al.
FRONTIERS IN PHYSIOLOGY , cilt.12, 2021 (SCI-Expanded) Creative Commons License identifier identifier identifier

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

Xue J., Simsek-Kiper P. O., ÜTİNE G. E., Yan L., Wang Z., Taskiran E. Z., et al.
JOURNAL OF HUMAN GENETICS , cilt.66, sa.6, ss.607-611, 2021 (SCI-Expanded) identifier identifier identifier

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

ÜREL DEMİR G., Aydin B., KARAOSMANOĞLU B., AKGÜN DOĞAN Ö., Taskiran E. Z., ŞİMŞEK KİPER P. Ö., et al.
MOLECULAR SYNDROMOLOGY , cilt.12, sa.2, ss.106-111, 2021 (SCI-Expanded) Creative Commons License identifier identifier identifier

Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?

Kosukcu C., Taskiran E., Batu E., Sag E., Bilginer Y., Alikasifoglu M., et al.
RHEUMATOLOGY , cilt.60, sa.2, ss.607-616, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma

KOLKIRAN A., KARAOSMANOĞLU B., TAŞKIRAN Z. E., Kiper P. Ö. Ş., ÜTİNE G. E.
Turkish Journal of Pediatrics , cilt.63, sa.6, ss.1091-1096, 2021 (SCI-Expanded) identifier identifier

CD66b(+)monocytes represent a proinflammatory myeloid subpopulation in cancer

Horzum U., Yoyen-Ermis D., Taskiran E. Z., Yilmaz K. B., HAMALOĞLU E., KARAKOÇ D., et al.
CANCER IMMUNOLOGY IMMUNOTHERAPY , cilt.70, sa.1, ss.75-87, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Genetic IGF1R defects: new cases expand the spectrum of clinical features

Gonc E. N., Ozon Z., Oguz S., Kabacam S., Taskiran E., Kiper P., et al.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION , cilt.43, sa.12, ss.1739-1748, 2020 (SCI-Expanded) identifier identifier identifier

Novel insights into diabetes mellitus due toDNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group

ÖZÖN Z. A., ALİKAŞİFOĞLU A., KANDEMİR N., Aydin B., GÖNÇ E. N., KARAOSMANOĞLU B., et al.
PEDIATRIC DIABETES , cilt.21, sa.7, ss.1176-1182, 2020 (SCI-Expanded) identifier identifier identifier

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

YALICI ARMAĞAN B., Kabacam S., TAŞKIRAN Z. E., GÖKÖZ Ö., ÜTİNE G. E., ERSOY EVANS S.
PEDIATRIC DERMATOLOGY , cilt.37, sa.2, ss.358-361, 2020 (SCI-Expanded) identifier identifier identifier

Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey

Emiralioğlu N., Taşkıran E., Koşukcu C., Bilgiç E., Atilla P., Kaya B., et al.
PEDIATRIC PULMONOLOGY , cilt.55, sa.2, ss.383-393, 2020 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

The Effect of Boron-Containing Nano-Hydroxyapatite on Bone Cells

Gizer M., Köse S., Karaosmanoglu B., Taskiran E., Berkkan A., Timuçin M., et al.
BIOLOGICAL TRACE ELEMENT RESEARCH , cilt.193, sa.2, ss.364-376, 2020 (SCI-Expanded) identifier identifier identifier

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Ozen S., Bilginer Y., Batu E., Taşkıran E., Özkara H. A., Ünal Ş., et al.
JOURNAL OF RHEUMATOLOGY , cilt.47, sa.1, ss.117-125, 2020 (SCI-Expanded) identifier identifier identifier

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes

Akgun-Dogan O., Simsek-Kiper P. O., Taskiran E., Lissewski C., Brinkmann J., Schanze D., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.179, sa.12, ss.2474-2480, 2019 (SCI-Expanded) identifier identifier identifier

Development, characterization and research of efficacy on in vitro cell culture of glucosamine carrying hyaluronic acid nanoparticles

Şahin Ş., BİLGİÇ E., Salimi K., Tuncel A., KARAOSMANOĞLU B., Taşkıran E. Z., et al.
JOURNAL OF DRUG DELIVERY SCIENCE AND TECHNOLOGY , cilt.52, ss.393-402, 2019 (SCI-Expanded) identifier identifier

Primary tumor resection for initially staged IV breast cancer An emphasis on programmed death-ligand 1 expression, promoter methylation status, and survival

Erol T., İmamoğlu N., Aydin B., Taşkiran Z. E., Esendağli G., Kösemehmetoğlu K., et al.
MEDICINE , cilt.98, sa.33, 2019 (SCI-Expanded) identifier identifier identifier

Ophthalmo-acromelic syndrome in an infant

ÜREL DEMİR G., Taskiran E. Z., AKGÜN DOĞAN Ö., Simek-Kiper P. O., ÜTİNE G. E.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.62, sa.7, 2019 (SCI-Expanded) identifier identifier identifier

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome

Simsek-Kiper P. O., Taskiran E., KOŞUKCU C., ARSLAN U. E., Cormier-Daire V., Gonc N., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.179, sa.7, ss.1157-1172, 2019 (SCI-Expanded) Creative Commons License identifier identifier identifier

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum

Akgün D., Demir G., Kosukcu C., Taskiran E., Simsek-Kiper P., Utine G., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.62, sa.6, 2019 (SCI-Expanded) identifier identifier identifier

Transcriptome analysis reveals differentially expressed genes between human primary bone marrow mesenchymal stem cells and human primary dermal fibroblasts

TASKIRAN E. Z., KARAOSMANOĞLU B.
TURKISH JOURNAL OF BIOLOGY , cilt.43, sa.1, ss.21-27, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behcet's Disease

Taskiran E., Sonmez H., Kosukcu C., Tavukcuoglu E., Yazici G., Esendagli G., et al.
JOURNAL OF CLINICAL IMMUNOLOGY , cilt.39, sa.1, ss.99-105, 2019 (SCI-Expanded) identifier identifier identifier

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus

Batu E. D., Koşukcu C., Taşkıran E., Sahin S., Akman S., Sözeri B., et al.
JOURNAL OF RHEUMATOLOGY , cilt.45, sa.12, ss.1671-1679, 2018 (SCI-Expanded) identifier identifier identifier

Genetic testing for DADA2: How can we avoid missing patients?

SÖNMEZ H. E., BATU AKAL E. D., Taskiran E. Z., ALİKAŞİFOĞLU M., BİLGİNER Y., ÖZEN S.
EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.26, sa.11, ss.1563-1564, 2018 (SCI-Expanded) Creative Commons License identifier identifier identifier

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis

Simsek-Kiper P., Taskiran E., Kosukcu C., Urel-Demir G., Akgun-Dogan O., Yilmaz G., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.176, sa.9, ss.2009-2016, 2018 (SCI-Expanded) identifier identifier identifier

Human bone marrow mesenchymal stem cells secrete endocannabinoids that stimulate in vitro hematopoietic stem cell migration effectively comparable to beta-adrenergic stimulation

KOSE S., AERTS-KAYA F. S. F., Kopru C. Z., NEMUTLU E., Koskonmaz B., KARAOSMANOĞLU B., et al.
EXPERIMENTAL HEMATOLOGY , cilt.57, ss.30-41, 2018 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

VURALLI KARAOĞLAN D., KOŞUKCU C., Taskiran E., Simsek P. O., ÜTİNE G. E., BODUROĞLU O. K., et al.
HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.363, 2018 (SCI-Expanded) identifier

Clinical, demographic and nosologic characterisation of the genetic disorders of the skeleton in Turkey: The Skeletal Dysplasia registry

ŞİMŞEK KİPER P. Ö., Utine G. E., TAŞKIRAN Z. E., KOŞUKCU C., ALANAY Y., ALİKAŞİFOĞLU M., et al.
European Journal Of Human Genetics , 2018 (SCI-Expanded)

Neonatal-Onset Recurrent Guillain-Barre Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

Ardicli D., TASKIRAN E. Z., KOŞUKCU C., Temucin Ç. M., OGUZ K. K., HALILOGLU G., et al.
NEUROPEDIATRICS , cilt.48, sa.6, ss.477-481, 2017 (SCI-Expanded) identifier identifier identifier

HERC1 mutations in idiopathic intellectual disability

ÜTİNE G. E., Taskiran E. Z., KOŞUKCU C., KARAOSMANOĞLU B., GÜLERAY N., Dogan O. A., et al.
European Journal of Medical Genetics , cilt.60, sa.5, ss.279-283, 2017 (SCI-Expanded) identifier identifier identifier

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.

Dökmeci-Emre S., TAŞKıRAN Z. E., YÜZBAŞıOĞLU A., ÖNAL G., AKARSU A. N., KARADUMAN A., et al.
The Turkish journal of pediatrics , cilt.59, ss.475-482, 2017 (SCI-Expanded) Creative Commons License identifier identifier identifier

Whole Exome Sequencing in Early Onset Systemic Lupus Erythematosus

BATU AKAL E. D., KOŞUKCU C., Taskiran E. Z., AKMAN S., Ozturk K., SÖZERİ B., et al.
ARTHRITIS & RHEUMATOLOGY , cilt.68, 2016 (SCI-Expanded) identifier

The Characteristic Features of the Patients with Deficiency of Adenosine Deaminase 2 (DADA2)

ERDEN A., BATU AKAL E. D., Taskiran E. Z., SÖNMEZ H. E., SARI A., ARMAĞAN B., et al.
ARTHRITIS & RHEUMATOLOGY , cilt.68, 2016 (SCI-Expanded) identifier

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

Cetinkaya A., Xiong J. R., Vargel İ., Kösemehmetoğlu K., Canter H. I., Gerdan O. F., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.99, sa.2, ss.299-317, 2016 (SCI-Expanded) Creative Commons License identifier identifier identifier

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations

Batu E. D., KARADAĞ Ö., TASKIRAN E. Z., KALYONCU U., AKSENTIJEVICH I., ALİKAŞİFOĞLU M., et al.
JOURNAL OF RHEUMATOLOGY , cilt.42, sa.8, ss.1532-1534, 2015 (SCI-Expanded) Creative Commons License identifier identifier identifier

Mutations In Anks6 Cause A Nephronophthisis-like Phenotype With End Stage Renal Disease

Taskiran E., Korkmaz E., Gucer S., KOŞUKCU C., Kaymaz F., Koyunlar C., et al.
PEDIATRIC NEPHROLOGY , cilt.29, sa.9, ss.1820, 2014 (SCI-Expanded) identifier

Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD

Taskiran E. Z., Korkmaz E., Gucer S., KOŞUKCU C., Kaymaz F., Koyunlar C., et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY , cilt.25, sa.8, ss.1653-1661, 2014 (SCI-Expanded) Creative Commons License identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

ALANAY Y., BEKİR E., ÜTİNE G. E., ORÇUN H., ŞİMŞEK KİPER P. Ö., TAŞKIRAN E. Z., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.2, ss.291-304, 2014 (SCI-Expanded) identifier identifier identifier

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN

ÖZALTIN F., Li B., Rauhauser A., An S., Soylemezoglu O., Gonul I. I., et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY , cilt.24, sa.3, ss.377-384, 2013 (SCI-Expanded) Creative Commons License identifier identifier identifier

Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency

KANDEMİR N., VURALLI KARAOĞLAN D., Taskiran E., Gonc N., Ozon A., ALİKAŞİFOĞLU A., et al.
TURKISH JOURNAL OF PEDIATRICS , cilt.54, sa.6, ss.570-575, 2012 (SCI-Expanded) identifier identifier identifier

The effect of colchicine on pyrin and pyrin interacting proteins.

Taskiran E. Z., Cetinkaya A., Balci-Peynircioglu B., Akkaya Y. Z., Yilmaz E.
Journal of cellular biochemistry , cilt.113, sa.11, ss.3536-46, 2012 (SCI-Expanded) Creative Commons License identifier identifier identifier

Expression of ASC in post-mortem brain samples of Alzheimer's disease patients: A possible role for ASC in A beta amyloid formation

Taskiran E. Z., Balci-Peynircioglu B., Soylemezoglu F., YILMAZ E.
TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI , cilt.36, sa.4, ss.350-355, 2011 (SCI-Expanded) identifier

MEFV mutations in systemic onset juvenile idiopathic arthritis

Ayaz N. A., ÖZEN S., BİLGİNER Y., Erguven M., Taskiran E., YILMAZ E., et al.
RHEUMATOLOGY , cilt.48, sa.1, ss.23-25, 2009 (SCI-Expanded) Creative Commons License identifier identifier identifier

Expression of ASC in renal tissues of familial mediterranean fever patients with amyloidosis: postulating a role for ASC in AA type amyloid deposition.

Balci-Peynircioglu B., Waite A. L., Schaner P., TAŞKIRAN Z. E., Richards N., ORHAN D., et al.
Experimental biology and medicine (Maywood, N.J.) , cilt.233, sa.11, ss.1324-33, 2008 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

De Novo Cloning and Functional Characterization of a Mechanosensitive Piezo-Like Ion Channel in the Crayfish

ERGİN B., SAĞLAM B., Arslan K., COŞKUN BEYATLI N., TAŞKIRAN Z. E., BAŞTUĞ T., et al.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology , cilt.57, sa.4, ss.226-237, 2023 (ESCI) identifier identifier

Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report

Sahin E. A., Taskiran E. Z., ŞİMŞEK KİPER P. Ö., Aydin B., Utine E.
JOURNAL OF MEDICAL CASE REPORTS , cilt.16, sa.1, 2022 (ESCI) Creative Commons License identifier identifier identifier

Current Diagnostic Methods in Primary Ciliary Dyskinesia: Hacettepe University Experience

EMİRALİOĞLU N., TAŞKIRAN Z. E., KOŞUKCU C., BİLGİÇ E., ATİLLA P., KAYA Z. B., et al.
Turkish Thoracic Journal , cilt.20, ss.17, 2019 (Scopus) Creative Commons License

The Effect of Erythropoietin Treatment on Gene Expression Profile of Mesenchymal Stem Cells

Dalkiran D., KARAOSMANOĞLU B., TAŞKIRAN Z. E.
Acta Medica , cilt.50, sa.2, ss.16-24, 2019 (Hakemli Dergi) Creative Commons License

Neuronal Conversion of Dermal Fibroblasts as a Disease Model

TAŞKIRAN Z. E., KARAOSMANOĞLU B.
Cumhuriyet Medical Journal , cilt.40, sa.4, ss.392-399, 2018 (Hakemli Dergi) Creative Commons License

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Neuroimaging features of MOPDII in ten patients with PCNT mutation: A Tertiary Centre Experience

AKALIN A., GÖÇMEN R., Simsek-Kiper P., TAŞKIRAN Z. E., ALANAY Y., HALİLOĞLU V. G., et al.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.408-409 Sürdürülebilir Kalkınma identifier

Osteojenik Matriks Olgunlaşmasında La-ilişkili Protein 7 ‘nin Rolü

Özışın M. Ş., İMREN G., KARAOSMANOĞLU B., TAŞKIRAN Z. E.
18. Tıbbi Biyoloji ve Genetik Kongresi, 26 Ekim 2023

Kondrositlerde ELF3 Hedefli Anti-Sense Oligonükleotidlerin Kullanımı: Osteoartrit Tedavisine Yeni Bir In Vitro Yaklaşım

Aydın B., İMREN G., TAŞKIRAN Z. E., KARAOSMANOĞLU B.
18. Tıbbi Biyoloji ve Genetik Kongresi, 26 Ekim 2023

Titanyum Bazlı Nanotopografik Yüzeylerle Mezenkimal Kök Hücre Modifikasyonu

Taşdemir N. K., Kılıçarslan B., İMREN G., KARAOSMANOĞLU B., BAYRAM C., TAŞKIRAN Z. E.
18. Tıbbi Biyoloji ve Genetik Kongresi, 26 Ekim 2023

Zihinsel Yetersizlik ve Dismorfik Bulgular ile Başvuran Yeni Nesil Dizi Analizi ile Tanı Alan 5 Nadir Sendrom

Soğukpınar M., KARAOSMANOĞLU B., TAŞKIRAN Z. E., ÜREL DEMİR G., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.
6. Ulusal Çocuk Genetik Kongresi, 09 Kasım 2023

ScRNA Veri Analizi Ile Hematopoetik Yolculuk: Ribozomal Proteinlerin İfadesi

KARAOSMANOĞLU B., İMREN G., TAŞKIRAN Z. E.
2. Ulusal HematoOnkoGenetik Kongresi, 04 Mayıs 2023

Allel-Spesifik Anti-Sense Oligonükleotidler: Kalıtsal Retina Hastalıklarında ‘’Ince Ayar’’ Tedavi Mümkün Olabilir Mi?

Karaosmanoğlu B., İmren G., Ütine G. E., Taylan-Şekeroğlu H., Taşkıran Z. E.
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 9 - 13 Kasım 2022

RSPRY1 İlişkili Spondiloepimetafizyel Displazide Transkriptomik Yaklaşım

Karaosmanoğlu B., Taşkıran Z. E., Kiper Şimşek P. Ö., Ütine G. E.
XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Türkiye, 30 Ekim 2020

Büyük veriden hücre karakterizasyonuna: Transkripsiyon faktörü kataloglarınınoluşturulması

İMREN G., KARAOSMANOĞLU B., ÇELEBİ SALTIK B., ESENDAĞLI G., TAŞKIRAN Z. E.
Tıbbi Biyoloji ve Genetik Kongresi, Türkiye, 27 - 30 Ekim 2019

Sendromik olmayan zihinsel yetersizlikte tüm ekzom dizilemenin tanısal verimi

TAŞKIRAN Z. E., KARAOSMANOĞLU B., KOŞUKCU C., ÜREL DEMİR G., akgün doğan ö., Kiper şimşek P. Ö., et al.
16. Tıbbi Biyoloji ve Genetik Kongresi, Türkiye, 25 - 27 Ekim 2019

Boron-Containing Nano-Hydroxyapatite Composites Alters Mesenchymal Stem Cell Proliferation and Osteogenic Differentiation

GİZER M., KÖSE S., KARAOSMANOĞLU B., TAŞKIRAN Z. E., BERKKAN A., TİMUÇİN M., et al.
European Orthopedic Research Society 27th Annual Anniversary Meeting, 2 - 05 Ekim 2019

The Skeletal Dysplasia Registry: Hacettepe Experience

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., ÜTİNE G. E., ALANAY Y., et al.
The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norveç, 11 - 14 Eylül 2019

Development of a new antiproliferative arachydonoylcyclopropilamide (ACPA) releasing nanoparticle-based drug for endometrial cancers by targeting cannabinoid 1 receptors

BİLGİÇ E., BOYACIOĞLU Ö., VARAN C., BİLENSOY E., NEMUTLU E., KARAOSMANOĞLU B., et al.
EACR Conference Nanotechnology in Cancer: Engineering for Oncology, 12 - 14 Eylül 2019 Sürdürülebilir Kalkınma

Cannabinoid Receptor 1-Mediated Antiproliferative Effect of ACPA and ACPA-PCL Controlled Release System on Non-Small Cell Lung Cancer Lines

BOYACIOĞLU Ö., BİLGİÇ E., VARAN C., BİLENSOY E., NEMUTLU E., KARAOSMANOĞLU B., et al.
EACR Conference Nanotechnology in Cancer: Engineering for Oncology, Cambridge, Kanada, 12 - 14 Eylül 2019 Sürdürülebilir Kalkınma

AB0574 A MONOGENIC DISEASE WITH WIDE RANGE OF SYMPTOMS: DEFICIENCY OF ADENOSINE DEAMINASE 2

BATU AKAL E. D., TAŞKIRAN Z. E., TEZCAN F. İ., ÖZKARA H. A., ÇAĞDAŞ AYVAZ D. N., ÖZEN S., et al.
Annual European Congress of Rheumatology (EULAR), Madrid, İspanya, 12 - 15 Haziran 2019, cilt.78, ss.1748 Creative Commons License identifier

Small cell lung cancer stem cells show adaptive resistance through effectively Inducing t cell activation and modulating the expression of co-inhibitory receptor

KURŞUNEL M. A., TAŞKIRAN Z. E., ESENDAĞLI G.
International Molecular Immunology Immunogenetics Congress IV (MIMIC IV), Bursa, Türkiye, 27 - 29 Nisan 2019, ss.29 Sürdürülebilir Kalkınma

Kemik hücrelerine bor içeren nano-hidroksiapatit kompozitlerin moleküler etki mekanizması

Gizer M., KÖSE S., KARAOSMANOĞLU B., TAŞKIRAN Z. E., BERKKAN A., TİMUÇİN M., et al.
24. Ulusal Elektron Mikroskopi Kongresi, Edirne, Türkiye, 24 - 26 Nisan 2019

Endometriyum kanserinde araşidonilsiklopropilamid (ACPA)’in kannabinoid 1 reseptörü aracılı antiproliferatif etkisinin gösterilmesi

BİLGİÇ E., BOYACIOĞLU Ö., KARAOSMANOĞLU B., TAŞKIRAN Z. E., KORKUSUZ P.
24. Ulusal Elektron Mikroskopi Kongresi, Edirne, Türkiye, 24 - 26 Nisan 2019, ss.112-113 Sürdürülebilir Kalkınma

Primer Siliyer Diskinezi Tanısında Güncel Yöntemlerin Kullanımı: Hacettepe Deneyimi

EMİRALİOĞLU N., TAŞKIRAN Z. E., Kosukcu C., Bilgic E., Atilla P., Kaya B., et al.
Türk Toraks Derneği 22. Ulusal Kongresi, Antalya, Türkiye, 10 - 14 Nisan 2019

Two siblings with primary ciliary dyskinesia and hepatic involvement

hizal m., BİLGİÇ E., TAŞKIRAN Z. E., ATİLLA P., AKÇÖREN Z., GÜNAYDIN R. Ö., et al.
3rd BEAT-PCD Conference and 4th PCD Training School, Lisbon, Portekiz, 6 - 09 Şubat 2018

A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

VURALLI KARAOĞLAN D., KOŞUKCU C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., UTİNE G. E., BODUROĞLU O. K., et al.
57th Annual ESPE European Society for Paediatric Endocrinology, Atina, Yunanistan, 27 - 29 Eylül 2018, cilt.90, ss.351-352

Comparative Transcriptome Analysis of Distinct Stromal Cell Populations During Extracellular Matrix Remodeling in Skeletal Muscle

ÖZDEMİR SAKA C., AKÇAY D., YÖYEN ERMİŞ D., TAŞKIRAN Z. E., ESENDAĞLI G., KOCAEFE Y. Ç.
13th Meeting of the Mediterrranean Society of Myology, 27 - 29 Haziran 2018, cilt.37, ss.129-183

Clinical, demographic and nosologic characterization of the genetic disorders of the skeleton in Turkey: The skeletal dysplasia registry.

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., ALANAY Y., et al.
European Human Genetics Conference, Milan, Italy, June 16-19, 2018., Milan, İtalya, 16 - 19 Haziran 2018

Mezenkimal Kök Hücreler Endokannabinoidler Aracılığı ile Hematopoietik Kök Hücre Mobilizasyonunu Düzenlemektedir

KÖSE S., KÖPRÜ Ç. Z., KARAOSMANOĞLU B., TAŞKIRAN Z. E., AERTS KAYA F. S. F., NEMUTLU E., et al.
Elektron Mikroskobu Kongresi, Türkiye, 24 - 26 Nisan 2019

Rett sendromlu 16 hastanın klinik ve moleküler açıdan değerlendirilmesi

ZENGİN AKKUŞ P., TAŞKIRAN Z. E., KABAÇAM S., ŞİMŞEK KİPER P. Ö., HALİLOĞLU V. G., BODUROĞLU O. K., et al.
61. Türkiye Milli Pediatri Kongresi, Antalya, Türkiye, 15 - 19 Kasım 2017

Oftalmo-akromelik sendrom

ÜREL DEMİR G., TAŞKIRAN Z. E., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.
3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017

PGAP3 geninde yeni tanımlanmış mutasyona bağlı hiperfosfatazya mental retardasyon sendromu

AKGÜN DOĞAN Ö., ÜREL DEMİR G., KOŞUKCU C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.
3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: a RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., AKGÜN DOĞAN Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.
International Skeletal Dysplasia Society Meeting, 20 - 23 Eylül 2017

Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family

KOŞUKCU C., ASLI K., ALANAY Y., KAVAK P., BERKER N., TAŞKIRAN Z. E., et al.
10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Kıbrıs (Kktc), 29 - 30 Haziran 2017

A Section of Rare Diseases in Hacettepe Adult Clinics in Rheumatology: Deficiency of Adenosine Deaminase 2 (DADA2)

BÖLEK E. Ç., ERDEN A., ÖZEN S., KARADAĞ Ö., KALYONCU U., BATU E. D., et al.
5th Rare Diseases Summer School, 7 - 09 Haziran 2017

Homozygous novel variant in MUT in a patient with intellectual disability without metabolic derangement

ÜTİNE G. E., TAŞKIRAN Z. E., KOŞUKCU C., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., BODUROĞLU O. K., et al.
European Society of Human Genetics Conference 2017, Kopenhag, Danimarka, 27 - 30 Mayıs 2017

RSPRY1 associated skeletal dysplasia: Spondylo-epi-metaphyseal dysplasia with conobrachydactyly and craniosynostosis

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., AKGÜN DOĞAN Ö., YILMAZ G., ÜTİNE G. E., et al.
European Society of Human Genetics Conference 2017, Kopenhag, Danimarka, 27 - 30 Mayıs 2017

Whole Exoma Sequencing in early onset systemic lupus erythematosus

BATU E. D., kosukcu c., TAŞKIRAN Z. E., AKMAN S., Unsal e., ekinci z., et al.
2016 ACR/ARHP Annual Meeting, 6 - 11 Kasım 2016

Array CGH’te Saptanan Kopya Sayısı Değişikliklerinin Klinikle ve Kantitatif PCR ile Değerlendirilmesi

CEYLAN A. C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALİKAŞİFOĞLU M.
12. Ulusal Tıbbi Genetik Kongresi, İzmir, Türkiye, 5 - 09 Ekim 2016, ss.356

Clinical and Molecular Analysis of 3M Syndrome Patients A Study From Turkey

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., Cormier Daire V., et al.
28th International Congress of Pediatrics, 17 - 22 Ağustos 2016

Clinical and Molecular aspects and genotype phenotype correlation in Rett syndrome

ZENGİN AKKUŞ P., ÜTİNE G. E., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., HALİLOĞLU V. G., et al.
European Society of Human Genetics Conference 2016 Barcelona, 21 - 24 Mayıs 2016

Clinical and quantitative PCR confirmation of copy number variations detected by array CGH

CEYLAN A. C., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALİKAŞİFOĞLU M.
European Society of Human Genetics Conference 2016, 21 - 24 Mayıs 2016

Clinical aspects and genotype-phenotype correlation in Rett syndrome

ZENGİN AKKUŞ P., ÜTİNE G. E., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., HALİLOĞLU V. G., et al.
European Human Genetics Conference, Barcelona, İspanya, 21 Mayıs 2016

Clinical molecular aspects and genotype phenotype correlation in Rett syndrome

ZENGİN AKKUŞ P., ÜTİNE G. E., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., HALİLOĞLU V. G., et al.
European Society of Human Genetics 2016, Barcelona, İspanya, 21 - 24 Mayıs 2016

Mezenkimal Kök Hücreler Hematopoetik Kök Hücrelerin mobilizasyonunu Endokannabinoidler aracılığı ile düzenlemektedir.

KÖSE S., KÖPRÜ Ç. Z., KARAOSMANOĞLU B., TAŞKIRAN Z. E., AERTS KAYA F. S. F., NEMUTLU E., et al.
XIII. Ulusal Histol ve Embriyol Kongresi, İzmir, Türkiye, 30 Nisan - 03 Mayıs 2016, ss.89-90

Mendel Hastalıklarında Tüm Ekzom Dizileme

TAŞKIRAN Z. E.
XIV. ULUSAL TIBBİ BİYOLOJİ VE GENETİK KONGRESİ, Türkiye, 27 - 30 Ekim 2015

Yağ Damlacıklarının Lipofaji Aracılı Regülasyonunda PNPLA1 Proteininin Rolü

ÖNAL G., ORAL Ö., TAŞKIRAN Z. E., YÜZBAŞIOĞLU A., KARADUMAN A., GÖZÜAÇIK D., et al.
XIV. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 - 30 Ekim 2015

Metrikler

Yayın

118

Atıf (WoS)

624

H-İndeks (WoS)

13

Atıf (Scopus)

808

H-İndeks (Scopus)

15

Atıf (Scholar)

6

H-İndeks (Scholar)

1

Proje

29

Açık Erişim

18
BM Sürdürülebilir Kalkınma Amaçları