165 results on '"Başaran, Seher"'
Search Results
2. Clinical and molecular genetic findings of hereditary Parkinson's patients from Turkey
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Emekli, Inci, Tepgeç, Fatih, Samancı, Bedia, Toksoy, Güven, Hasanoğulları Kına, Gizem, Tüfekçioğlu, Zeynep, Başaran, Seher, Bilgiç, Başar, Gürvit, İ. Hakan, Emre, Murat, Uyguner, Zehra Oya, and Hanagasi, Hasmet A.
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- 2021
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3. Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
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Turgut, Gozde Tutku, Altunoglu, Umut, Gulec, Cagri, Sarac Sivrikoz, Tugba, Kalaycı, Tuğba, Toksoy, Guven, Avcı, Şahin, Yıldırım, Behiye Tuğçe, Sayın, Gözde Yeşil, Kalelioglu, Ibrahim Halil, Karaman, Birsen, Has, Recep, Başaran, Seher, Yuksel, Atil, Kayserili, Hülya, and Uyguner, Zehra Oya
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FETUS ,HYDROPS fetalis ,AUTOPSY ,DUAL diagnosis ,CENTRAL nervous system ,PHENOTYPES ,FORENSIC pathology - Abstract
Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal translucency (50%), and fetal hydrops (35%). Postmortem examinations unveiled additional anomalies including facial dysmorphisms, dysplastic skeletal changes, ichthyosis, multiple pterygia, and myopathy, allowing preliminary diagnosis of particular Mendelian disorders in multiple patients. Evaluation of the parents revealed maternal grip myotonia in one family. By exome sequencing and targeted testing, we identified causative variants in ACTC1, CHST14, COG6, DMPK, DOK7, HSPG2, KLHL7, KLHL40, KIAA1109, NEB, PSAT1, RAPSN, USP14, and WASHC5 in 15 families, and one patient with a plausible diagnosis associated with biallelic NEB variants. Three patients received a dual diagnosis. Pathogenic alterations in newly discovered genes or in previously known genes recently linked to new MCC phenotypes were observed in 44% of the cohort. Our results provide new insights into the clinical and molecular landscape of lethal MCC phenotypes. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Clinical and Genetic Investigation of Premature Ovarian Insufficiency Cases from Turkey
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Oral, Engin, Toksoy, Guven, Sofiyeva, Nigar, Celik, Hale Goksever, Karaman, Birsen, Basaran, Seher, Azami, Asli, and Uyguner, Zehra Oya
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- 2019
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5. A CASE REPORT OF A RARE NONSENSE ZP1 VARIANT IN A PATIENT WITH OOCYTE MATURATION DEFECT*
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Berkay, Ezgi, primary, Karaman, Birsen, additional, Uyguner, Zehra, additional, and Başaran, Seher, additional
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- 2023
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6. PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency.
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Kardelen, Aslı Derya, Najaflı, Adam, Baş, Firdevs, Karaman, Birsen, Toksoy, Güven, Poyrazoğlu, Şükran, Avcı, Şahin, Altunoğlu, Umut, Abalı, Zehra Yavaş, Öztürk, Ayşe Pınar, Özturan, Esin Karakılıç, Başaran, Seher, Darendeliler, Feyza, and Uyguner, Z. Oya
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GENETIC mutation ,ANTHROPOMETRY ,RETROSPECTIVE studies ,GENETIC testing ,HUMAN growth hormone ,CASE studies ,DESCRIPTIVE statistics ,RESEARCH funding ,PITUITARY hormones ,DATA analysis software ,GROWTH disorders - Abstract
Objective: Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of pituitary hormone deficiencies, suggesting a potential role for the PROK2 pathway in pituitary development, in addition to its role in gonadotropin releasing hormone-expressing neuron development. Here, we present the clinical and molecular findings of four patients with PROKR2 mutations. Methods: Next-generation targeted sequencing was used to screen 25 genes in 59 unrelated patients with multiple pituitary hormone deficiency (MPHD), isolated growth hormone (GH) deficiency, or idiopathic short stature. Results: Two different, very rare PROKR2 missense alterations classified as pathogenic (NM_144773.4:c.518T>G; NP_658986.1:p. (Leu173Arg)) and likely pathogenic (NM_144773.4:c.254G>A; NP_658986.1:p.(Arg85His)) were identified in four patients in heterozygous form. Patient 1 and Patient 2 presented with short stature and were diagnosed as GH deficiency. Patient 3 and Patient 4 presented with central hypothyroidism and cryptorchidism and were diagnosed as MPHD. No other pathogenic alterations were detected in the remaining 24 genes related to short stature, MPHD, and hypogonadotropic hypogonadism. Segregation analysis revealed asymptomatic or mildly affected carriers in the families. Conclusion: PROKR2 dominance should be kept in mind as a very rare cause of GH deficiency and MPHD. Expressional variation or lack of penetrance may imply oligogenic inheritance or other environmental modifiers in individuals who are heterozygous carriers. [ABSTRACT FROM AUTHOR]
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- 2023
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7. RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
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Szenker-Ravi, Emmanuelle, Altunoglu, Umut, Leushacke, Marc, Bosso-Lefèvre, Célia, Khatoo, Muznah, Thi Tran, Hong, Naert, Thomas, Noelanders, Rivka, Hajamohideen, Amin, Beneteau, Claire, de Sousa, Sergio B., Karaman, Birsen, Latypova, Xenia, Başaran, Seher, Yücel, Esra Börklü, Tan, Thong Teck, Vlaminck, Lena, Nayak, Shalini S., Shukla, Anju, Girisha, Katta Mohan, Le Caignec, Cédric, Soshnikova, Natalia, Uyguner, Zehra Oya, Vleminckx, Kris, Barker, Nick, Kayserili, Hülya, and Reversade, Bruno
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- 2018
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8. A rare ring chromosome 21 abnormality is associated with azoospermia in two different phenotypically normal cases.
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Berkay, Ezgi Gizem, Karaman, Birsen, and Başaran, Seher
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CHROMOSOME abnormalities ,AZOOSPERMIA ,MALE infertility ,CHROMOSOMES - Abstract
Azoospermia can be diagnosed with spermiogram analysis, and karyotyping is the golden standard to explain the etiology. In this study, we investigated two male cases with azoospermia and male infertility for chromosomal abnormalities. Their phenotypes and physical and hormonal examinations were both normal. In karyotyping G-banding and NOR staining, a rare ring chromosome 21 abnormality was detected in the cases and no microdeletion in chromosome Y. Ring abnormality, deletion size, and deleted regions were shown with subtelomeric FISH (.ish r(21)(p13q22.3?)(D21S1446-)) and array CGH analyses. Due to the findings, bioinformatics, protein, and pathway analyses were done to detect a candidate gene through common genes in two cases' deleted regions or ring chromosome 21. [ABSTRACT FROM AUTHOR]
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- 2023
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9. Kardiyak Anomalili Fetüslerde Kromozomal Mikrodizin Analizinin Tanıdaki Etkinliği: Kohort Araştırması.
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ŞENTÜRK, Hilal, ÖZSAİT SELÇUK, Bilge, SARAÇ SİVRİKOZ, Tuğba, KALAYCI, Tuğba, ÖMEROĞLU, Rukiye Nurten, BULUT, Gülnihal, KALELİOĞLU, İbrahim H., HAS, Recep, YÜKSEL, Atıl, BAŞARAN, Seher, KARAMAN, Birsen, and KÖMÜRCÜ BAYRAK, Evrim
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- 2023
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10. A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations
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Uyguner, Zehra Oya, Toksoy, Güven, Altunoglu, Umut, Ozgur, Hilal, Basaran, Seher, and Kayserili, Hülya
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- 2015
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11. Fetal Hand Anomalies: 18 Cases Diagnosed Between 2020-2022 from a Single Tertiary Care Center
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Aslanger, Ayça, primary, Saraç Sivrikoz, Tuğba, additional, Kalaycı, Tuğba, additional, Başaran, Seher, additional, and Uyguner, Zehra, additional
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- 2022
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12. Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey
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Kalayci, Tugba, primary, Altunoglu, Umut, additional, Çorbacioglu Esmer, Aytul, additional, Avcı, Şahin, additional, Sarac Sivrikoz, Tugba, additional, Karaman, Birsen, additional, Kalelioğlu, İbrahim, additional, Has, Recep, additional, Uyguner, Zehra Oya, additional, Yüksel, Atıl, additional, Başaran, Seher, additional, and Kayserili, Hülya, additional
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- 2022
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13. CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE
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Aslanger, Ayça, primary, Kalaycı, Tuğba, additional, Konur, Esma, additional, Güleç, Çağrı, additional, Avcı, Şahin, additional, Altunoğlu, Umut, additional, Karaman, Volkan, additional, Toksoy, Güven, additional, Karaman, Birsen, additional, Başaran, Seher, additional, Uyguner, Zehra, additional, and Yeşil Sayın, Gözde, additional
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- 2022
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14. LİZENSEFALİ SPEKTRUMU OLGULARINDA GENOTİP-FENOTİP İLİŞKİSİ
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Aslanger, Ayça, primary, Uyguner, Zehra, additional, Karaman, Birsen, additional, Başaran, Seher, additional, and Kayserili Karabey, Hülya, additional
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- 2022
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15. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
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Akcan, Neşe, primary, Uyguner, Oya, additional, Baş, Firdevs, additional, Altunoğlu, Umut, additional, Toksoy, Güven, additional, Karaman, Birsen, additional, Avcı, Şahin, additional, Yavaş Abalı, Zehra, additional, Poyrazoğlu, Şükran, additional, Aghayev, Agharza, additional, Karaman, Volkan, additional, Bundak, Rüveyde, additional, Başaran, Seher, additional, and Darendeliler, Feyza, additional
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- 2022
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16. INTER-POPULATION COMPARISONS AND THE IMPORTANCE IN INFECTIOUS DISEASES OF THE IRF7, TBK1, IFNAR1, IFNAR2 AND TLR3 GENE VARIANTS IN TURKISH INDIVIDUALS
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Karacan, Aslı, primary, Toksoy, Güven, additional, Uyguner, Zehra, additional, Karaman, Birsen, additional, Başaran, Seher, additional, and Bayrak, Ayşe, additional
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- 2022
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17. Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype
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Turgut, Gozde Tutku, primary, Altunoglu, Umut, additional, Sarac Sivrikoz, Tugba, additional, Toksoy, Guven, additional, Kalaycı, Tuğba, additional, Avcı, Şahin, additional, Karaman, Birsen, additional, Gulec, Cagri, additional, Başaran, Seher, additional, Sayın, Gözde Yeşil, additional, Kayserili, Hulya, additional, and Uyguner, Zehra Oya, additional
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- 2022
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18. Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
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Kalayci, Tugba, Altunoglu, Umut, Çorbacioglu Esmer, Aytul, Avcı, Şahin, Sarac Sivrikoz, Tugba, Karaman, Birsen, Kalelioğlu, İbrahim, Has, Recep, Uyguner, Zehra Oya, Yüksel, Atıl, Başaran, Seher, and Kayserili, Hülya
- Abstract
We report on 314 fetal cases from 297 unrelated families with skeletal dysplasia evaluated in the postmortem period from 2000 to 2017 at a single clinical genetics center in İstanbul, Turkey. The definite diagnostic yield was 40% during the prenatal period, while it reached 74.5% when combined with postmortem clinical and radiological evaluation. Molecular analyses were performed in 25.5% (n: 76) of families, and 21 novel variants were identified. Classification according to International Skeletal Dysplasia Society‐2019 revision revealed limb hypoplasia‐reduction defects group (39) as the leading one, 24.5%, then followed by FGFR3 chondrodysplasias, osteogenesis imperfecta, and decreased mineralization and polydactyly‐syndactyly‐triphalangism groups 13.6, 11.1, and 8.9%, respectively. The inheritance pattern was autosomal recessive in 54% and autosomal dominant in 42.6% of index cases. The overall consanguinity rate of the cohort was 33%. The high prevalence of ultrarare diseases along with two or more unrelated autosomal recessive entities running in the same family was noteworthy. This study highlights the pivotal role of postmortem evaluation by an experienced clinical geneticist to achieve a high diagnostic yield in fetal skeletal dysplasia cohorts. The cohort is not only a representation of the spectrum of skeletal dysplasias in a population with a high consanguinity rate but also provides an ideal research group to work on to identify the unknowns of early fetal life. [ABSTRACT FROM AUTHOR]
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- 2023
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19. Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
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Szenker-Ravi, Emmanuelle, Altunoglu, Umut, Leushacke, Marc, Bosso-Lefèvre, Célia, Khatoo, Muznah, Thi Tran, Hong, Naert, Thomas, Noelanders, Rivka, Hajamohideen, Amin, Beneteau, Claire, de Sousa, Sergio B., Karaman, Birsen, Latypova, Xenia, Başaran, Seher, Yücel, Esra Börklü, Tan, Thong Teck, Vlaminck, Lena, Nayak, Shalini S., Shukla, Anju, Girisha, Katta Mohan, Le Caignec, Cédric, Soshnikova, Natalia, Uyguner, Zehra Oya, Vleminckx, Kris, Barker, Nick, Kayserili, Hülya, and Reversade, Bruno
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- 2018
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20. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome
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Uzumcu, Abdullah, Karaman, Birsen, Toksoy, Guven, Uyguner, Z. Oya, Candan, Sukru, Eris, Hacer, Tatli, Burak, Geckinli, Bilge, Yuksel, Adnan, Kayserili, Hulya, and Basaran, Seher
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- 2009
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21. Holoprosencephaly: chromosomal abnormalities in the etiopathogenesis of 127 antenatal cases
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Karabey Kayserili, Hülya (ORCID 0000-0003-0376-499X & YÖK ID 7945), Karaman, Birsen; Ergin, Selvi; Yüksel, Atil; Satkın, Nihat Bilge; Kalelioğlu, İbrahim Halil; Has, Recep; Başaran, Seher, Karabey Kayserili, Hülya (ORCID 0000-0003-0376-499X & YÖK ID 7945), and Karaman, Birsen; Ergin, Selvi; Yüksel, Atil; Satkın, Nihat Bilge; Kalelioğlu, İbrahim Halil; Has, Recep; Başaran, Seher
- Abstract
Objective: holoprosencephaly (HPE, #MIM 236100) is the most common developmental defect of midline cleavage in the human forebrain. Environmental, genetic, and multifactorial causes are involved in its etiology. About half of the cases have chromosome aberrations such as trisomies 13 and 18, triploidy and structural imbalances. Single gene mutations have been shown in similar to 25% of cases. In this retrospective study, we aimed to determine the etiological factors related to HPE in 127 fetuses. Material and method: this study comprises 127 prenatally diagnosed fetal HPE samples from a period of 25 years, which were evaluated by karyotyping, fluorescence in situ hybridization (FISH) and aCGH investigation. Results: a total of 64 (50.39%) chromosome aberrations were identified in this cohort. The predominant chromosomal abnormality was trisomy 13 (n=38), which was followed by trisomy 18 (n=8) and triploidy (n=5). Terminal 7q deletion was the most frequent structural anomaly (n=10, of which 5 were de novo deletion, 4 were an unbalanced product of maternal translocations and one unknown in origin) and the deletion of 18p was detected in one case. In the remaining two cases, we detected trisomy 20 and pericentric inversion 11 coincidentally. Conclusion: this study, indicates that in the presence of clinical findings suggesting HPE, cytogenetic and molecular cytogenetic studies should be performed. An aCGH study must also be done for submicroscopic chromosomal anomalies, to determine their sizes, real breakpoints and identify possible novel genes that might play a role in HPE etiology. / Amaç: holoprosensefali (HPE), ön beyin orta hat bölünmesinde en sık görülen gelişimsel bozukluktur. Etiyolojisinde, çevresel, genetik ve multi faktöriyel hastalıklar rol oynamaktadır. Vakaların yaklaşık yarısında, trizomi 13 başta olmak üzere, trizomi 18 ve triploidi gibi sayısal anomaliler ve yapısal kromozom anomalileri bulunmaktadır. Olguların ~%25'inde tek gen mutasyonları gösterilm
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- 2021
22. TÜRK POPÜLASYONUNDA IRF7, TBK1, IFNAR1, IFNAR2 VE TLR3 GEN VARYANTLARININ POPÜLASYONLAR ARASI KARŞILAŞTIRMALARI VE ENFEKSİYON HASTALIKLARINDAKİ ÖNEMİ.
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KARACAN, Aslı, TOKSOY, Güven, UYGUNER, Oya, KARAMAN, Birsen, BAŞARAN, Seher, and KÖMÜRCÜ-BAYRAK, Evrim
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GENETIC variation ,TRANSMISSIBLE tumors ,VIRUS diseases ,COMMUNICABLE diseases ,TURKS - Abstract
Copyright of Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi is the property of Istanbul Tip Fakultesi Dergisi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2022
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23. HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES
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Karaman, Birsen, primary, Ergin, Selvi, additional, Kayserili, Hülya, additional, Yüksel, Atıl, additional, Satkın, Nihan Bilge, additional, Kalelioğlu, İbrahim Halil, additional, Has, Recep, additional, and Başaran, Seher, additional
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- 2021
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24. Clinical and molecular characterization of Fanconi anemia patients in Turkey
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Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945); Altunoğlu, Umut (ORCID 0000-0002-3172-5368 & YÖK ID 126174); Avcı, Şahin, Toksoy, Güven; Uludağ Alkaya, Dilek; Bağırova, Gülendam; Aghayev, Agharza; Güneş, Nilay; Alanay, Yasemin; Başaran, Seher; Berkay, Ezgi G.; Karaman, Birsen; Celkan, Tiraje T.; Apak, Hilmi; Tüysüz, Beyhan; Uyguner, Zehra O., Koç University Hospital, School of Medicine, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945); Altunoğlu, Umut (ORCID 0000-0002-3172-5368 & YÖK ID 126174); Avcı, Şahin, Toksoy, Güven; Uludağ Alkaya, Dilek; Bağırova, Gülendam; Aghayev, Agharza; Güneş, Nilay; Alanay, Yasemin; Başaran, Seher; Berkay, Ezgi G.; Karaman, Birsen; Celkan, Tiraje T.; Apak, Hilmi; Tüysüz, Beyhan; Uyguner, Zehra O., Koç University Hospital, and School of Medicine
- Abstract
Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system is held responsible, though the mechanism is not yet fully understood. The clinical and molecular findings of 20 distinct FA cases, ages ranging from perinatal stage to 32 years, are presented here. Pathogenic variants in FANCA were found responsible in 75%, FANCC, FANCE, FANCJ/BRIP1, FANCL in 5%, and FANCD1/BRCA2 and FANCN/PALB2 in 2.5% of the subjects. Altogether, 25 different variants in 7 different FA genes, including 10 novel mutations in FANCA, FANCN/PALB2, FANCE, and FANCJ/BRIP1, were disclosed. Two compound heterozygous germline cases were mosaic for one allele, revealing that the incidence of reverse mutations may not be uncommon in FA. Another case with de novo FANCD1/BRCA2 and paternally inherited FANCN/PALB2 pathogenic alleles at first glance suggested a digenic inheritance, because the presence of a second pathogenic variant in the unexamined regions of FANCD1/BRCA2 and FANCN/PALB2 were exluded by sequencing and deletion/duplication analysis. A better understanding of the complexity of the FA genotype may provide further access to undiscovered ICL components and apparently dispensable cellular pathways where FA proteins may play important roles., NA
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- 2020
25. NOONAN SENDROMU’NUN PRENATAL TANISINDA PTPN11 GEN ANALİZLERİNİN ETKİNLİĞİ
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Toksoy, Güven, primary, Tepgeç, Fatih, additional, Saraç Sivrikoz, Tuğba, additional, Kalelioğlu, İbrahim Halil, additional, Demir, Selma, additional, Has, Recep, additional, Yüksel, Atıl, additional, Uyguner, Zehra Oya, additional, and Başaran, Seher, additional
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- 2021
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26. TEKRARLAYAN GEBELİK KAYIPLARINDA ETİYOLOJİNİN AÇIKLANMASINA YÖNELİK YENİ YAKLAŞIMLAR
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Berkay, Ezgi Gizem, primary and Başaran, Seher, additional
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- 2021
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27. The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey
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Karaman, Birsen, Aytan, Melike, Yilmaz, Kader, Toksoy, Guven, Onal, Ebru Perim, Ghanbari, Asadollah, Engur, Ayse, Kayserili, Hulya, Yuksel-Apak, Memnune, and Basaran, Seher
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- 2006
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28. CHANGES IN CLINICAL AND CYTOGENETIC FINDINGS OF INVASIVE PRENATAL DIAGNOSIS FROM 1989 TO 2011 IN ISTANBUL; IMPACT OF THE BIOCHEMICAL SCREENING TESTS AND FETAL ULTRASONOGRAPHY
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Başaran, Seher, primary, Karaman, Birsen, additional, Kırgız, Melike, additional, Kalelioğlu, İbrahim Halil, additional, Has, Recep, additional, Dehgan, Tahir, additional, Yıldırım, Alkan, additional, Toksoy, Güven, additional, and Yüksel, Atıl, additional
- Published
- 2020
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29. Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey
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Toksoy, Güven, primary, Uludağ Alkaya, Dilek, additional, Bagirova, Gülendam, additional, Avcı, Şahin, additional, Aghayev, Agharza, additional, Günes, Nilay, additional, Altunoğlu, Umut, additional, Alanay, Yasemin, additional, Başaran, Seher, additional, Berkay, Ezgi G., additional, Karaman, Birsen, additional, Celkan, Tiraje T., additional, Apak, Hilmi, additional, Kayserili, Hülya, additional, Tüysüz, Beyhan, additional, and Uyguner, Zehra O., additional
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- 2020
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30. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
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Kalay, Ersan, Uzumcu, Abdullah, Krieger, Elmar, Çaylan, Refik, Uyguner, Oya, Ulubil-Emiroglu, Melike, Erdol, Hidayet, Kayserili, Hülya, Hafiz, Gunter, Başerer, Nermin, Heister, Angelien J.G.M., Hennies, Hans C., Nürnberg, Peter, Başaran, Seher, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Wollnik, Bernd, and Kremer, Hannie
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- 2007
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31. Application of MLPA (multiplex ligation-dependent probe amplification) in fetuses with an abnormal sonogram and normal karyotype
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Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Toksoy, Güven; Karaman, Birsen; Uyguner, Zehra Oya; Yılmaz, Kader; Has, Recep; Miny, Peter; Başaran, Seher, School of Medicine, Department of Medical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Toksoy, Güven; Karaman, Birsen; Uyguner, Zehra Oya; Yılmaz, Kader; Has, Recep; Miny, Peter; Başaran, Seher, School of Medicine, and Department of Medical Genetics
- Abstract
Objective/material and method: cryptic chromosomal imbalances contribute significantly to the etiology of multiple congenital anomalies with or without mental retardation (MCA/MR). Current approaches in prenatal diagnosis include targeted high resolution analyses by MLPA and some microarray platforms or a genomewide screening at maximal resolution using oligonucleotide or SNP arrays. The major disadvantages of the latter approach are cost and the inadvertent detection of copy number variation of unknown clinical significance. In this prospective work, fetal DNA samples from 66 fetuses who had pathological antenatal ultrasonography findings with normal karyotype and Multiprobe T-FISH results were tested using commercially available targeted MLPA probe-sets to compare the efficacy and the impact of MLPA testing at prenatal setting. Results: three submicroscopic deletions (3.66; 4.5%) were detected in the cohort. Two of them were de novo deletions, 18ptel and 7q11.23. The third finding was a 75 kb duplication at 18q, which was maternally inherited and probably a benign copy number variation unrelated to the pathological ultarsonography findings. Conclusion: the observed detection rate by MLPA testing can be considered within the expected range. Furthermore, benign copy number variation was identified with the targeted diagnostic approach as an unexpected finding. This study shows that MLPA is a practical and cost-effective technique to investigate submicroscobic chromosomal aberrations in fetuses., İstanbul Üniversitesi Araştırma Fonu
- Published
- 2019
32. CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS
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AVCI, Şahin, TOKSOY, Güven, BAĞIROVA, Gülenadam, ALTUNOĞLU, Umut, KARAMAN, Birsen, BAŞARAN, Seher, KAYSERİLİ, Hülya, and UYGUNER, Z. Oya
- Subjects
Fanconi anemisi,radial ışın defektleri,yeni nesil dizileme ,Fanconi anemia,next-generation sequencing,radial ray defects ,Health Care Sciences and Services ,Sağlık Bilimleri ve Hizmetleri - Abstract
DOI: 10.26650/IUITFD.427250Amaç: Radiyal ışın defektleri (RID)1/30.000 prevalansı ile üst ekstremitenin en sık gözlenen konjenitalanomalisidir. Olguların yaklaşık %30’unda RID izole olarak, %70’inde ekanomaliler veya sendromlar ile birlikte gözlenir. Bu nedenle, olgularda tanınınkesinleşmesi, izlemi, ailelere özgün genetik danışma verilmesi ve sonrakigebeliklerinde prenatal tanı seçeneğinin sunulabilmesi için önemlidir. Buçalışma ile RID olgularının ayırıcı tanısında yol gösterici olması, molekülertanıya katkı sağlaması amacıyla yeni nesil dizileme (YND) gen-panelioluşturuldu ve panelin moleküler tanıdaki etkinliği araştırıldı. Gereç ve Yöntem: Bu çalışmada, 2004-2014 yılları arasındakliniğimizde RID bulgusu ile değerlendirilen 37 aileden 48 etkilenmiş olgununklinik, moleküler ve sitogenetik bulguları değerlendirildi. Karyotipi normalsaptanan ve moleküler tanısı olmayan 31 ailenin indeks olgusunda 14 farklıfenotip ile ilişkili 43 gen, RID için tasarladığımız hedefe yönelik YND paneliile dizilendi. Bulgular: Sitogenetik analiz ile bir olgudatrizomi 18 ve diğer bir olguda ise ailevi t(2;12)(q31;q24.3) translokasyonusaptandı. Dört ailede ilişkili genlerdeki (SF3B4, SALL4, TBX5, FANCA)mutasyonlar çalışma öncesinde moleküler analizlerle belirlenmişti. Tanısıolmayan 31 indeks olgunun 5’inde (%16), 4 farklı gende (FANCA, NIPBL, ESCO2,BRIP1) 6 farklı mutasyon saptandı. Sonuç: RID nedeniyle değerlendirilen 37ailenin 2’sinde (%5.4) kromozom anomalisi ve 9’unda (%24.3) 7 farklı gende 9farklı mutasyon saptandı. Bulgularımız, RID olgularında özgün tasarlanan yeninesil dizileme panelimizin moleküler tanıya önemli oranda katkı sağladığını; RID’ınetyopatogenezinde kromozom anomalilerinin de yer aldığını, ayırıcı tanıda yeralması ve RID-panel çalışmasından önce kromozom anomalilerinin dışlanmasıgerektiğini gösterdi., DOI: 10.26650/IUITFD.427250Objective: Radial ray defects (RRDs) arethe most common congenital abnormality of the upper extremities, with aprevalence of 1:30,000. 70% of RRDs are syndromic or accompanied by additionalmalformations, whereas 30% are in isolated form. Definitive diagnosis iscritical for follow-up and provides an opportunity for prenatal diagnosis. Theaim of this study was to provide a guide for the differential diagnosis ofpatients with RRD via contributing to their molecular diagnosis by constructinga next-generation sequencing (NGS) gene-panel test.Materials and Methods: 48 probands from 37families, referred for genetic consultation due to RRD, between the years of2004–2014, were evaluated by cytogenetic and molecular tools following clinicalexaminations. 31 probands, with normal karyotype, were screened for 43 RRDassociated genes of 14 syndromes by using in-house-designed targeted NGSgene-panel.Results: Chromosomal abnormalities [atrisomy 18 and a familial reciprocal translocation t(2;12)(q31;q24.3)] in twofamilies and mutations in related genes (SF3B4, SALL4, TBX5, FANCA) in fourfamilies were known before the initiation of this study. In remaining 31probands, five families identified to have six different mutations in fourdifferent genes (FANCA, NIPBL, ESCO2, BRIP1). Conclusion: Chromosomal abnormalities intwo of the 37 families (5.4%) and gene mutations in nine of the 37 families(24.3%) were identified. Our study demonstrated that an in-house-designedtargeted NGS containing 43 genes made considerable contribution to thediagnosis of RRD. Moreover, chromosomal abnormalities must always be consideredin the differential diagnosis and excluded before gene-panel screening.
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- 2018
33. MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES
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KARAMAN, Volkan, TOKSOY, Güven, KARAMAN, Birsen, KAYSERİLİ KARABEY, Hülya, BAŞARAN, Seher, ALTUNOĞLU, Umut, AVCI, Şahin, and UYGUNER, Zehra Oya
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Health Care Sciences and Services ,Kraniyosinostoz,FGFR,TWIST1 ,Craniosynostosis,FGFR,TWIST1 ,Sağlık Bilimleri ve Hizmetleri - Abstract
Amaç: Sendromik (SCS) ve non-sendromik kraniyosinostozlu (NSCS) olgularda, kraniyosinostoz tipleriyle ilişkilendirilmiş genlerde (FGFR1-3, TWIST1, MSX2, POR, FREM1 ve RAB23) mutasyonların araştırılması ve moleküler genetik tanı için akılcı bir akış şeması oluşturulması. Gereç ve Yöntem: İstanbul Üniversitesi, İstanbul Tıp Fakültesi, Tıbbi Genetik AD’da kromozom anomalisi dışlanmış, altısı prenatal ve 34’ü postnatal tanı alan, dokuzu NSCS ve 31’i SCS toplam 40 olgu ile 34 sağlıklı ebeveyn çalışmamıza dahil edildi. SCS’li olguların dokuzu Pfeiffer (PS), altısı Crouzon (CRS), beşi Apert (AS), yedisi Saethre-Chotzen (SaCS) ve dördü Muenke (MUS)/Saethre Chotzen (SaCS) idi. Kraniyosinostoz tipine göre mutasyonların en sık gözlendiği gen/ekzon bölgelerinden başlanarak, tüm gen ve ilişkili diğer genler aşamalı olarak Sanger dizileme yöntemi ile incelendi. Mutasyon saptanmayan olgularda incelenen genlerdeki büyük delesyon ve duplikasyonlar Multiplex Ligation-depended Probe Amplification (MLPA) yöntemi ile araştırıldı. Bulgular: Olgularımızın %50’sinde dizi analizi ile ve %2,5’unda MLPA yöntemi ile klinik bulguları destekleyen moleküler genetik sonuçlara ulaşıldı. Moleküler tanı oranı SCS grubunda %64,5, NSCS grubunda %11,1 oldu. Sonuç: Sendromik olgularda moleküler tanı oranı seri ortalamasının üzerinde idi. Birinci basamakta FGFR2 geni ekzon 7-8’de olası mutasyonlar dışlandıktan sonra, ikinci basamaktaki hedef ekzonlara (3, 5, 11, 14-17) ekzon 12 ve 13’ün ilavesi PS’de mutasyon saptama oranını %33 arttırdı. Çalışmamız, moleküler tanı alan ailelere özgün genetik danışma olanağı sağladı. CS olgularında izlenen akış şemasında Sanger dizileme ile 1. ve 2. basamak testlerden sonra mutasyon saptanmayan olguların yeni nesil dizileme tekniği ile klinik ekzom ve yüksek çözünürlüklü mikroarray çalışmasına alınmasının uygun olacağına karar verildi., Objective: Craniosynostosis (CS) associated genes (FGFR1-3, TWIST1, MSX2, POR, FREM1 and RAB23) were investigated in order to determine the mutation rates and establish an effective flow chart for molecular genetic diagnosis for syndromic (SCS) and non-syndromic craniosynostosis (NSCS). Material and Method: A total of 40 cases, including six prenatal cases, with normal karyotypes, and 34 parents were investigated in the Medical Genetics Department of Istanbul Medical Faculty. The clinical diagnosis was NSCS in 9, Pfeiffer in 9 (PS), Crouzon in 6 (CRS), Apert in 5 (AS), Saethre-Chotzen in 7 (SaCS) and Muenke/Saethre Chotzen in 4 (MUS/SaCS) of the cases. According to the clinical diagnosis, the hot spot mutation sites of genes/exons were screened initially and the whole gene and other genes were progressively examined by Sanger sequencing. The Multiplex Ligation-Depended Probe Amplification (MLPA) technique was applied to detect deletions/duplications. Results: Molecular results were achieved in 50% of cases by sequencing and in 2.5% by MLPA. Molecular diagnosis rate was 64.5% in SCSs and 11.1% in NSCSs. Conclusion: Molecular diagnosis rate was higher in the SCS than in the NSCS group. Including exons 12 and 13 to target exons (3, 5, 11, 14-17) of FGFR2 gene increases the mutation rate by 33% in the second step of the molecular investigation in PS cases. Genetic counseling with the families following molecular diagnosis is important. Our results supported the fact that CS cases with un-identified pathogenic variants in the first and second steps of the algorithmic chart, should be followed by clinical exome and high resolution microarray techniques.
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- 2018
34. APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE
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TOKSOY, Güven, KARAMAN, Birsen, UYGUNER, Zehra Oya, YILMAZ, Kader, HAS, Recep, KAYSERİLİ, Hülya, MINY, Peter, and BAŞARAN, Seher
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Health Care Sciences and Services ,MLPA,subtelomeric anomalies,prenatal diagnosis microdeletion/microduplication ,MLPA,subtelomerik değişimler,doğum öncesi tanı mikrodelesyon/mikroduplikasyon ,Sağlık Bilimleri ve Hizmetleri - Abstract
Objective/Material and Method: Cryptic chromosomal imbalances contribute significantly to the etiology of multiple congenital anomalies with or without mental retardation (MCA/MR). Current approaches in prenatal diagnosis include targeted high resolution analyses by MLPA and some microarray platforms or a genomewide screening at maximal resolution using oligonucleotide or SNP arrays. The major disadvantages of the latter approach are cost and the inadvertent detection of copy number variation of unknown clinical significance. In this prospective work, fetal DNA samples from 66 fetuses who had pathological antenatal ultrasonography findings with normal karyotype and Multiprobe T-FISH results were tested using commercially available targeted MLPA probe-sets to compare the efficacy and the impact of MLPA testing at prenatal setting.Results: Three submicroscopic deletions (3.66; 4.5%) were detected in the cohort. Two of them were de novo deletions, 18ptel and 7q11.23. The third finding was a 75 kb duplication at 18q, which was maternally inherited and probably a benign copy number variation unrelated to the pathological ultarsonography findings.Conclusion: The observed detection rate by MLPA testing can be considered within the expected range. Furthermore, benign copy number variation was identified with the targeted diagnostic approach as an unexpected finding. This study shows that MLPA is a practical and cost-effective technique to investigate submicroscobic chromosomal aberrations in fetuses.
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- 2018
35. Pearson Hemşirelik Tanıları El Kitabı
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IŞIK, IŞIL, ÖZDEMİR, ZELİHA, COŞKUN, SİBEL, BOZDOĞAN YEŞİLOT, SALİHA, BULUT, SÜREYYA, ÖZPANCAR, NURHAN, BAYRAK KAHRAMAN, BURCU, ÇIRAY GÜNDÜZOĞLU, NAZMİYE, KARABAĞ AYDIN, ARZU, OVAYOLU, ÖZLEM, KALANLAR, BİLGE, GÖK METİN, ZEHRA, ÜNVER, VESİLE, NURAL, NESRİN, TÜLEK, ZELİHA, ÇINAR YÜCEL, ŞEBNEM, KARACA, TÜRKAN, KOÇ, GÜLTEN, ÇETİN, HACER, ARIKAN DÖNMEZ, AYŞE, BÜYÜKKAYA BESEN, DİLEK, BAŞARAN, SEHER, GÖKÇE, SERAP, SARMASOĞLU, ŞENAY, AKKUŞ, YELİZ, ÖZKARAMAN, AYŞE, BAL ÖZKAPTAN, BİLGE, IRMAK, ZÖHRE, UYSAL, HİLAL, DURU AŞİRET, GÜLER, ARIKAN, FATMA, YÜCEL, ÇİĞDEM, DOĞAN, SİBEL, KURT, YETER, and ATLI ÖZBAŞ, AZİZE
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- 2018
36. MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES
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Karaman, Volkan, primary, Toksoy, Güven, additional, Karaman, Birsen, additional, Kayserili Karabey, Hülya, additional, Başaran, Seher, additional, Altunoğlu, Umut, additional, Avcı, Şahin, additional, and Uyguner, Zehra Oya, additional
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- 2019
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37. APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE
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Toksoy, Güven, primary, Karaman, Birsen, additional, Uyguner, Zehra Oya, additional, Yılmaz, Kader, additional, Has, Recep, additional, Kayserili, Hülya, additional, Miny, Peter, additional, and Başaran, Seher, additional
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- 2019
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38. Identification of the parental origin of polysomy in two 49,XXXXY cases
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Çelik, Arzu, Eraslan, Serpil, Gökgöz, Nalan, Ilgin, Hatice, Başaran, Seher, Bökesoy, Işik, Kayserili, Hülya, Yüksel-Apak, Memnune, and Kirdar, Betül
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- 1997
39. Radiyal ışın defektlerinin klinik sınıflandırması ve etyopatogenezinin araştırılması
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Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Avcı, Şahin; Toksoy, Güven; Bağırova, Gülendam; Altunoğlu, Umut; Karaman, Birsen; Başaran, Seher; Uyguner, Z. Oya, School of Medicine, Department of Medical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Avcı, Şahin; Toksoy, Güven; Bağırova, Gülendam; Altunoğlu, Umut; Karaman, Birsen; Başaran, Seher; Uyguner, Z. Oya, School of Medicine, and Department of Medical Genetics
- Abstract
Objective: radial ray defects (RRDs) are the most common congenital abnormality of the upper extremities, with a prevalence of 1:30,000. 70% of RRDs are syndromic or accompanied by additional malformations, whereas 30% are in isolated form. Definitive diagnosis is critical for follow-up and provides an opportunity for prenatal diagnosis. The aim of this study was to provide a guide for the differential diagnosis of patients with RRD via contributing to their molecular diagnosis by constructing a next-generation sequencing (NGS) gene-panel test. Materials and methods: 48 probands from 37 families, referred for genetic consultation due to RRD, between the years of 2004-2014, were evaluated by cytogenetic and molecular tools following clinical examinations. 31 probands, with normal karyotype, were screened for 43 RRD associated genes of 14 syndromes by using in-house-designed targeted NGS gene-panel. Results: chromosomal abnormalities [a trisomy 18 and a familial reciprocal translocation t(2;12)(q31;q24.3)] in two families and mutations in related genes (SF3B4, SALL4, TBX5, FANCA) in four families were known before the initiation of this study. In remaining 31 probands, five families identified to have six different mutations in four different genes (FANCA, NIPBL, ESCO2, BRIP1). Conclusion: chromosomal abnormalities in two of the 37 families (5.4%) and gene mutations in nine of the 37 families (24.3%) were identified. Our study demonstrated that an in-house-designed targeted NGS containing 43 genes made considerable contribution to the diagnosis of RRD. Moreover, chromosomal abnormalities must always be considered in the differential diagnosis and excluded before gene-panel screening. / Amaç: radiyal ışın defektleri (RID) 1/30.000 prevalansı ile üst ekstremitenin en sık gözlenen konjenital anomalisidir. Olguların yaklaşık %30’unda RID izole olarak, %70’inde ek anomaliler veya sendromlar ile birlikte gözlenir. Bu nedenle, olgularda tanının kesinleşmesi, izlemi, ailelere, İstanbul University Scientific Research Projects Unit
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- 2018
40. Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
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Kayserili, Hülya, Karaman, Birsen; Ghanbari, Asadollah; Uyguner, Zehra Oya; Toksoy, Güven; Altunoğlu, Umut; Başaran, Seher, School of Medicine, Department of Medical Genetics, Kayserili, Hülya, Karaman, Birsen; Ghanbari, Asadollah; Uyguner, Zehra Oya; Toksoy, Güven; Altunoğlu, Umut; Başaran, Seher, School of Medicine, and Department of Medical Genetics
- Abstract
Background: Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue-limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo-/hyper- pigmented streaks on the skin. Results: Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series, whereas in one stillbirth, following the clinical diagnosis of PKS, skin and buccal smear samples were taken, and all karyotypes from cultured fibroblasts revealed a supernumerary i(12p), while I-FISH study showed 60% mosaicism in mucosal cells. Conclusions: We here share the clinical, cytogenetic and molecular cytogenetic findings of 15 cases with PKS phenotype and the parental origin of seven i(12p) identified by molecular analyses. To our knowledge, this is the largest series of PKS patients with parental origin study from a single center. We believe that our study makes a significant contribution to the literature because we specifically found no differences in the phenotypes of cases with either a maternal or paternal origin of the extra element and differential imprinting appeared not to be a factor., NA
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- 2018
41. A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations
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Kardelen, Aslı Derya, primary, Toksoy, Güven, additional, Baş, Firdevs, additional, Yavaş Abalı, Zehra, additional, Gençay, Genco, additional, Poyrazoğlu, Şükran, additional, Bundak, Rüveyde, additional, Altunoğlu, Umut, additional, Avcı, Şahin, additional, Najaflı, Adam, additional, Uyguner, Oya, additional, Karaman, Birsen, additional, Başaran, Seher, additional, and Darendeliler, Feyza, additional
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- 2018
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42. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene
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Baş, Firdevs, primary, Toksoy, Güven, additional, Ergun-Longmire, Berrin, additional, Uyguner, Zehra Oya, additional, Abalı, Zehra Yavaş, additional, Poyrazoğlu, Şükran, additional, Karaman, Volkan, additional, Avcı, Şahin, additional, Altunoğlu, Umut, additional, Bundak, Ruveyde, additional, Karaman, Birsen, additional, Başaran, Seher, additional, and Darendeliler, Feyza, additional
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- 2018
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43. Hemşirelerin mesleki özerkliği algılama ve uygulamalarına yansıtabilme durumlarının incelenmesi
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Başaran, Seher, Dinç, Leyla, and Hemşirelik Esasları Anabilim Dalı
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Nurse administrators ,Nurses ,Nursing ,Nursing research ,Hemşirelik ,Autonomy ,Nursing services - Abstract
Araştırma hemşirelerin ve hemşire yöneticilerin, hemşirelerin mesleki özerkliğine ilişkin algılamaları ve uygulamalarına yansıtabilme durumlarının incelenmesini amacıyla metodolojik, tanımlayıcı ve niteliksel olmak üzere sıralı açıklayıcı tasarım ile üç aşamada gerçekleştirilmiştir. Araştırmanın evrenini Ankara Kamu Hastaneler Birliği'ne bağlı hastaneler ve üniversite hastanelerde çalışan hemşire ve hemşire yöneticiler oluşturmuştur. Araştırma üç aşamada gerçekleştirilmiştir: Birinci aşamada Hemşirelik Yetki ve Özerklik Ölçeği'nin (Nursing Authority and Autonomy Scale- NAAS) Türkçeye uyarlanması, geçerlik ve güvenirlik çalışması yapılmıştır (266 hemşire, 160 hemşire yönetici). İkinci aşama, Türkçeye uyarlanan ve psikometrik özellikleri uygun olarak belirlenen Hemşirelik Yetki ve Özerklik Ölçeği 'nin 146 yönetici hemşire ve 400 hemşireden oluşan yeni bir örneklem grubuna uygulandığı tanımlayıcı, niceliksel aşamadır. Üçüncü aşama ise, çalışmanın ikinci aşamasındaki örneklemde yer alan bir grup hemşirenin (n= 21) mesleki özerkliğe ilişkin anlayış ve yaşantılarını irdelemek amacıyla yüz yüze yarı yapılandırılmış görüşme tekniği kullanılarak yapılan niteliksel çalışmayı içermiştir. Araştırmanın birinci aşamasında Hemşirelik Yetki ve Özerklik Ölçeği'nin ülkemizde kullanımı için geçerliliği ve güvenilirliği saptanmış ve doğrulayıcı faktör analizi sonucunda yetki, özerklik, yetkinin önemi ve özerkliğin önemi olmak üzere dört alt boyut elde edilmiştir. Araştırmanın ikinci aşamasında hemşireler ve hemşire yöneticiler hemşirelerin mesleki özerkliklerini ortanın üstü düzeyde algıladıkları bulunmuştur. Mesleki dernek üyeliği olan, süreli yayın takip eden, uygulamalarında özerk olduklarını düşünen ve kurumun özerk uygulamaları desteklediğini düşünen, yönetim ile ilgili bir eğitim alan, eğitimde mesleki özerklik konusu yer alan, mevcut pozisyondan memnun olan ve Hemşirelik Kanunu'nun özerkliği desteklediğini düşünen hemşirelerin kendilerini daha özerk algıladıkları saptanmıştır. Araştırmanın üçüncü aşamasında hemşirelerin çoğu mesleki özerkliği hemşirelik bakım uygulamalarına bilgi, yeterlik, yetkinlik ve sorumluluklar çerçevesinde yasa, yönetmelik ve etik ilkelere bağlı kalarak başkalarına bağımlı olmadan, kimsenin kontrolü olmaksızın, bağımsız karar verme ve uygulama olarak tanımlamışlardır. Hemşireler mesleki mesleki özerkliğe sahip olmalarının hasta bakımını geliştireceğini, mesleğin statü ve güç kazanacağını, mesleğin görünürlüğünü arttıracağını, hemşirelerin mesleki doyum sağlayacakları gibi olumlu etkileri olacağını belirtmişlerdir. Ayrıca mesleki özerkliğin ahlaki ve vicdani bir yönü olduğu da ifade edilmiştir. Araştırmadan elde edilen sonuçlar doğrultusunda Türkçeye uyarlanan ve geçerlik ve güvenirlik çalışması saptanan Hemşirelik Yetki ve Özerklik Ölçeği' nin daha geniş ve farklı bir örneklem üzerinde uygulanması, mesleki özerklik, mesleki özerkliği etkileyen faktörler ve hasta bakım çıktıları arasındaki ilişkisinin incelenmesi önerilmiştir. The study was conducted in sequential explorative design including methodological, descriptive and qualitative with the aim of examining the perception and perspectives of professional autonomy of nurses and how they can exercise their professional autonomy in practice. The population consisted of nurses and nurse managers employed at all hospitals of the Ankara Public Hospital Association and university hospitals. The study was conducted in three phases: In the first methodological phase the Nursing Authority and Autonomy Scale-NAAS was adapted into Turkish and tested its validity and reliability on a sample of 266 nurses and 160 nurse managers. The second phase was the descriptive quantitative study, which included the administration of the Turkish version of Nursing Authority and Autonomy Scale-NAAS with proper psychometric properties to a new sample of 146 nurse managers and 400 nurses. The third phase included a qualitative study through semi-structured interviews with a purposive sampling of nurses (n=21) who had been participated to the second phase of the research to explore their understanding and experiences on professional autonomy. In the first phase, we found that the Nursing Authority and Autonomy Scale is a valid and reliable measurement to be used in our country and the confirmatory factor analyses yielded four sub-dimension, including the authority, autonomy, importance of authority and importance autonomy. In the second phase, we found that nurses and nurse managers perceive their professional autonomy over moderate level. Membership with a professional nursing association, reading periodical publications, believe of organizational support for professional autonomy, education on administration, content on autonomy during education, satisfaction with the current position and confidence on the support of Nursing law to professional autonomy associated with higher perception of professional autonomy. Qualitative data revealed that most of the nurses define professional autonomy as 'independent decision making and implementation of nursing care practices based on professional knowledge, competency, responsibilities within the frame of laws, regulations and ethical principles without being dependent on others or any external control. Nurses stated that having professional autonomy would have several positive outcomes including the improvement of the quality of patient care, increase of professional status and power, the visibility of nursing and increase of nurses' satisfaction from the profession. In addition, they also expressed that professional autonomy has a moral dimension and conscientiously side. According to results of this study, recommendations for further studies included the use of the Nursing Authority and Autonomy Scale on a larger and different sample, and investigation of the professional autonomy and its associations with patient care outcomes and influencing factors. 159
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- 2016
44. Hemşirelikte Güç Kavramının Analizi
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BAŞARAN, Seher and DUYGULU, Sergül
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Güç,güç kaynakları,hemşire,yönetici hemşire - Abstract
Güç, örgütsel yaşamda hem çalışanların gelişimi hem de kurumun gelişimi için önemli bir kavramdır. Güçlü çalışanlar ve güçlü örgütler oluşturmada çalışanlara ve yöneticilere sorumluluklar düşmektedir. Güç diğer örgütlerde olduğu gibi sağlık bakım hizmeti veren kurumlar ve hemşireler için de çok önemlidir. Bu derlemede; güç kavramı ve güç kaynakları, hemşirelerin bu güç kaynaklarını nasıl kullandıklarına ilişkin örnekler, hemşirelik ve güç ilişkisi, hemşirelerin güç kaynaklarını kullanmasını etkileyen faktörler ile hemşirelerin ve yönetici hemşirelerin güç kaynaklarını geliştirmede rol ve sorumlulukları ele alınmıştır. Anahtar Kelimeler: Güç; güç kaynakları; hemşire; yönetici hemşire
- Published
- 2015
45. Array-CGH Analizlerinde Saptanan De Novo Değişimlere Klinik Genetik Yaklaşım.
- Author
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Kumbasar, Gökçe, Toksoy, Güven, Başaran, Seher, and Karaman, Birsen
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FLUORESCENCE in situ hybridization ,GENETIC counseling ,INTELLECTUAL disabilities ,POLYMERASE chain reaction ,PUERPERIUM ,CHROMOSOME abnormalities - Abstract
Copyright of Gazi Medical Journal is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2019
- Full Text
- View/download PDF
46. SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ.
- Author
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KARAMAN, Volkan, TOKSOY, Guven, KARAMAN, Birsen, KAYSERİLİ KARABEY, Hulya, BAŞARAN, Seher, ALTUNOĞLU, Umut, AVCI, Şahin, and UYGUNER, Zehra Oya
- Abstract
Copyright of Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi is the property of Istanbul Tip Fakultesi Dergisi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2019
- Full Text
- View/download PDF
47. RADİYAL IŞIN DEFEKTLERİNİN KLİNİK SINIFLANDIRMASI VE ETYOPATOGENEZİNİN ARAŞTIRILMASI.
- Author
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Avcı, Şahin, Toksoy, Güven, Bağırova, Gülendam, Altunoğlu, Umut, Karaman, Birsen, Başaran, Seher, Kayserili, Hülya, and Uyguner, Z. Oya
- Subjects
TRISOMY 18 syndrome ,MOLECULAR diagnosis ,DIFFERENTIAL diagnosis ,ARM ,HUMAN abnormalities ,PRENATAL diagnosis - Abstract
Copyright of Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi is the property of Istanbul Tip Fakultesi Dergisi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2018
- Full Text
- View/download PDF
48. Duchenne Kas Distrofisi Dmd İçin Riskli Ailelerde Taşıyıcılığın Belirlenmesi ve Prenatal Tanı: 132 Aile ve 35 Gebeliğin Sonuçları
- Author
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Kayserili, Hülya, Polat, Deniz, Gökgöz, Nalan, Başaran, Seher, Karaman, Birsen, Kırdar, Betül, Tolun, Aslı, Aydınlı, Kılıç, Yüksel, Ahi, Apak, Selçuk, and Apak, Memnune Yüksel
- Abstract
The prenatal diagnosis of DMD a progressively debilitating lethal X linked recessive disorder is critical in order to provide the reproductive option of pregnancy termination of affected males for those families desiring it The purpose of this study is to investigate the efficiency of various methods in determining the carrier risks of females and its effects on decision making for prenatal diagnosis in families with affected children One hundred thirty two different families with 227 DMD patients and 1029 at risk female relatives have been evaluated Pedigree analyses serum CK levels RFLP and Bayesian analyses were used to provide carrier risk estimations Two separate Multiplex gene amplification systems were used to screen 98 DMD patients revealed deletions in 56 57 1 of them In cases where no deletions can be identified carrier detection and prenatal diagnosis was performed by RFLP analysis A total of 158 women were ascertained as definite carriers because of their family histories and elevated serum CK levels Forty four mothers from 65 affected families were found to be informative by linkage analysis using RFLPs and 10 of them were ascertained as carriers The combination of all 3 methods for carrier detection has increased the number of definite carriers to 168 Prenatal diagnosis was carried out in 35 high risk pregnancies and DMD was ascertained in 9 of total 13 male fetuses studied by molecular techniques Key words: Duchenne Muscular Dystrophy Prenatal Diagnosis Carrier Detection, X e bağlı resesif progresif ve letal bir hastalık olan DMD için riskli ailelerde taşıyıcıların belirlenmesi ve bu kadınların yeni gebeliklerinde prenatal tanı uygulanması ailelerin sağlıklı erkek çocuk sahibi olmalarına olanak verir nbsp; Bu çalışmanın amacı DMD li olguların bulunduğu ailelerdeki taşıyıcılık riski olan kadınların belirlenmesinde çeşitli yöntemlerin soy ağacı analizi serum CPK moleküler testler ve Bayesian analizi etkinliğini ve prenatal tanıyı yönlendirmedeki rolünü araştırmaktır nbsp; Bu çalışmada 132 farklı aileden gelen 227 DMD li hasta ve bunların taşıyıcılık riski olan 1029 kadın akrabası incelendi Taşıyıcıların belirlenmesi için aile öyküsü serum CPK düzeyleri RFLP ve Bayes analiz yöntemleri kullanıldı Toplam 98 DMD olgusunda 2 ayrı multiplex gen amplifikasyon sistemi ile yapılan taramada 56 hastada delesyon saptandı 57 1 Pozitif aile öyküsü ve yüksek serum CPK düzeyleri nedeni ile 158 kadının taşıyıcılıkları kesinleşti RFLP ile linkage analizi yapılan 65 ailedeki 44 kadın enformatif bulundu ve bunlardan 10 unun taşıyıcılıkları kesinleşti Böylece üç yöntemin kombine kullanımı ile toplam 168 kadının taşıyıcılıkları kesinleşmiş oldu Yüksek riskli 35 gebelikte prenatal tanı uygulandı Moleküler inceleme yapılabilen 13 erkek fetusdan 9 unun hasta olduğu belirlendi ve bu gebelikler sonlandırıldı Anahtar kelimeler: Duchenne Müsküler Distrofi Prenatal Tanı Taşıyıcılık Tanısı
- Published
- 2014
49. 1498 numaralı Rize Şer'iyye sicil defteri'nin transkripsiyon ve değerlendirmesi (101-200 arası sayfalar)
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Başaran, Seher, Şaşmaz, Musa, and Tarih Ana Bilim Dalı
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Tarih ,History ,Social life ,Rize ,Economic life ,19. century ,Court registers - Abstract
1498 Numaralı Rize Şer`iyye Sicili'nin bir bölümünün çalışıldığı bu tezde, amacımız, kayıtların günümüz Türkçesine çevrilmesi ve Rize'nin sosyal-ekonomik hayatına dair bir değerlendirme yapmaktır.Çalışmaya konu olan bölüm sicilin 101-200 arası sayfalarıdır. Giriş ve üç bölümden oluşmaktadır. Giriş bölümünde, kısaca Osmanlı Devleti'nin hukuk sisteminden, Şer`iyye mahkemelerinden, Şer`iyye sicillerinden ve Rize'nin XIX. yüzyıldaki idari yapısından bahsedilmiştir. Birinci bölümde, kayıtlardan yola çıkarak Rize'nin sosyal ve ekonomik hayatına dair bir değerlendirme yapılmıştır. Ayrıca kayıtlarda geçen sülâle ve yer isimleri çıkarılmıştır. İkinci bölümde, belgelerin özeti çıkarılmıştır. Üçüncü bölümde tezimize konu olan kayıtların transkripsiyonu yapılmıştır. Çalışması yapılan kayıtların önemli bir kısmını tereke paylaşımları, vasî tayinleri ve alacak davaları oluşturmaktadır. Bunun yanında boşanma, naib ataması ve nafaka talebi gibi farklı konulu kayıtlarda bulunmaktadır.Anahtar Kelimeler: Rize Şer`iyye Sicilleri, Rize Sülâle İsimleri, Rize Yer İsimleri, Sosyal ve Ekonomik Hayat The aim of this dissertation, in which a part of the Rize court registers numbered 1498 is studied, is to translate the registers into today?s Turkish language and make evaluations about Rize?s socio-economic life. The subject of the part studied are between the pages of 101-200. It consists of an introduction and three chapters. In the Introduction, the judicial system in the Ottoman State, courts and their registers and the administrative structure of Rize in the nineteenth century are briefly explained. In the first chapter, an evaluation is made about Rize?s social and economic life based upon the registers. In addition, the names of the families and the places are removed. In the second chapter, the registers are summarized. In the third chapter, the registers which are subject to the thesis are transcribed. A considerable part of the registers studied are composed of inheritance share, appointments of guardianship and action of debt. Furthermore, there are different registers like divorce, establishing proxy and alimony claim.Key words: Rize, Court Registers, Name of Family, Name of Places, Social and Economic Life 213
- Published
- 2012
50. Hemşirelerin sahip oldukları güç ve etkileyen faktörlere ilişkin görüşleri
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Başaran, Seher, Duygulu, Sergül, and Hemşirelik Hizmetleri Yönetimi Anabilim Dalı
- Subjects
Power ,Nurses ,Nursing ,Power factors ,Hemşirelik ,Personality assessment ,Personality - Abstract
Bu araştırma, hemşirelerin sahip oldukları güç ve bu gücü etkileyen faktörlere ilişkin görüşlerini ortaya çıkarmak amacıyla tanımlayıcı olarak yapılmıştır. Araştırma Ankara İlinde iki devlet hastanesi, iki üniversite hastanesi ve iki özel hastane olmak üzere toplam altı hastanede yapılmıştır. Araştırmanın örneklemini, bu hastanelerde çalışan 297 hemşire oluşturmuştur. Verilerin toplanmasında araştırmacı tarafından hazırlanan Tanıtıcı Bilgiler Formu ve Güç Soru Formu kullanılmıştır. Araştırmadan elde edilen veriler SPSS 15.0 Windows paket programı kullanılarak değerlendirilmiştir. Verilerin değerlendirilmesinde; tanımlayıcı istatistikler, Mann-Whitney U testi ve Kruskall Wallis Tek Yönlü Varyans Analizi kullanılmıştır. Bireysel güç açısından; karizmatik güç için hemşirelerin % 41.8'i, ikna gücü için % 53.2'si, özdeşlik gücü için % 43.4'ü ve uzmanlık gücü için % 41.4'ü kendilerini epey güçlü olarak değerlendirmiştir. Kurumsal güç açısından; ödüllendirme gücü için hemşirelerin % 44.1'i, yasal güç için % 34.7'si, ve bilgi gücü için % 32.7'si kendilerini epey güçlü olarak değerlendirmiştir. Ceza gücü için hemşirelerin % 29.6'sı kendilerini orta derecede güçlü olarak değerlendirirken, kaynak gücü için % 48.1'i kendilerini güçsüz olarak değerlendirmiştir. Karizmatik, ikna, özdeşlik gücünü olumlu etkileyen faktörlerin başında ?kişisel faktörler? gelmektedir. Uzmanlık gücünü etkileyen faktörlerin başında ise ?eğitim? gelmektedir. ?Kişisel faktörler? ödüllendirme, ceza, bilgi ve kaynak gücünü olumlu etkileyen faktörlerin de başında gelmektedir. Yasal gücü en fazla olumlu etkileyen faktör, ?eğitim?dir. Hemşirelerin %67.3'ü, bireysel gücün artırılmasına yönelik ?her zaman bir amaç ve hedef belirleme ve bu doğrultuda hareket etme? ile ?bilgi ve becerilerini artırabileceği fırsatları araştırma? önerilerini getirmiştir. Kurumsal gücü artırmaya yönelik ise; hemşirelerin %43.8'i ?kurumsal güç kaynaklarını bilme ve kullanma? ve %38.7'si ?üst yönetim ile iyi ilişkiler geliştirme?yi öneri olarak getirmişlerdir. Araştırma sonuçlarına göre; hemşirelerin güçlendirilmesine yönelik önerilerde bulunulmuştur. This study was designed as a descriptive study to examine nurses? views on their power and affecting factors. The study was conducted at six hospitals including two Ministry of Health hospitals, two university hospitals and two private hospitals. Sample was consisted of 297 nurses. Data was collected through Demographic Data Sheet and Power Question Form which was developed by researcher. SPSS 15.0 was used for statistical analysis. Descriptive statistics, Kruskal Wallis test and Mann-Whitney U test were used for data analysis. % 41.8 of nurses for charismatic power, % 53.2 of nurses for persuasiveness power , % 43.4 of nurses for referent power , % 41.4 of nurses for expertise power assessed themselves as very powerful in terms of personal power. %44.1 of nurses for reward power, % 34.7 of nurses for legitimate power, % 32.7 of nurses for information power assessed themselves as very powerful, % 29.6 of nurses for coercive power assessed themselves as moderately powerful and % 48.1 of nurses for sources power assessed themselves as powerless in terms of positional power. Personal factors were the most positive affecting factor on nurses? charismatic, persuasiveness and referent power. Education was the most affecting factor on nurses? expert power. Personal factors were also most positive affecting factor on nurses? persuasiveness, coercive, information and sources power. Education was the most positive affecting factors on nurses? legitimate power. % 67.3 of nurses suggested ?having always a purpose and objectives and acting accordingly? and ?seeking research opportunities for increasing the knowledge and skills? to increase personal power. %43.8 of nurses suggested ?being aware of and using institutional power sources? and %38.7 of nurses suggested ?developing good relations with top management? to increase positional power. According to results of this study, recommendations were stated for empowering nurses. 113
- Published
- 2011
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