نتائج البحث - "UYGUNER, Zehra Oya"

1

Academic Journal

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

المؤلفون: Senturk, Leyli, Gulec, Cagri, Sarac Sivrikoz, Tugba, Kayserili, Hulya, Kalelioglu, Ibrahim Halil, Avci, Sahin, Has, Recep, Coucke, Paul, Kalayci, Tugba, Wollnik, Bernd, Uyguner, Zehra Oya

المساهمون: Senturk, Leyli, Gulec, Cagri, Sarac Sivrikoz, Tugba, Kayserili, Hulya, Kalelioglu, Ibrahim Halil, Avci, Sahin, Has, Recep, Coucke, Paul, Kalayci, Tugba, Wollnik, Bernd, Uyguner, Zehra Oya

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/144062

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/144062
https://doi.org/10.1159/000536324

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2

Academic Journal

Clinical and Genetic Mechanisms in Patients with MC2R Deficiency Presenting with Early Puberty

المؤلفون: Karakilic Ozturan, Esin, Yavas Abali, Zehra, Karaman, Volkan, Poyrazoglu, Sukran, Uyguner, Zehra Oya, Darendeliler, Feyza, Bas, Firdevs

المصدر: Hormone Research in Paediatrics ; page 1-12 ; ISSN 1663-2818 1663-2826

الاتاحة: http://dx.doi.org/10.1159/000542307
https://karger.com/hrp/article-pdf/doi/10.1159/000542307/4296274/000542307.pdf

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3

Academic Journal

A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus

المؤلفون: Bulut, Gülnihal, Turgut, Gözde Tutku, Toksoy, Güven, Altunoğlu, Umut, Aslanger, Ayça Dilruba, Uyguner, Zehra Oya, Karaman, Birsen

المصدر: Molecular Syndromology ; page 1-8 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000540314
https://karger.com/msy/article-pdf/doi/10.1159/000540314/4265989/000540314.pdf

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4

Academic Journal

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures

المؤلفون: 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, Uyguner, Zehra Oya

المصدر: Clinical Genetics ; volume 105, issue 6, page 596-610 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14490
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14490

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5

Academic Journal

Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort

المؤلفون: Vollstedt, Eva Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen S., Waters, Cheryl H., Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim J., Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y., Abramycheva, Natalya Y., Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che, Crosiers, David, Wszolek, Zbigniew K., Ross, Owen A., Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimón, Jordi, Williams-Gray, Caroline, Camacho, Marta, Cornejo-Olivas, M., Torres-Ramirez, Luis, Chang Gung Memorial Hospital. Linkou Medical Center (Taoyuan, Taiwan), Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A., Borngräber, Friederike, de Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D., Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana Angelika, Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, de Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia M. G., Saunders-Pullman, Rachel, van de Warrenburg, Bart, Bressman, Susan, Toft, Mathias, Appel-Cresswell, Silke, Lang, Anthony E., Skorvanek, Matej, Boon, Agnita J. W., Krüger, Rejko, Sammler, Esther, Tumas, Vitor, Zhang, Baorong, Garraux, Gaetan, Chung, Sun Ju, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn M., Tan, Eng-King, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S., Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Das, Parimal, Mollenhauer, Brit, Petersen, Maria Skaalum, Valente, Enza Maria, Farrer, Matthew, Aasly, Anna, Aasly, Jan Olav, Albanese, Alberto, Alcalay, Roy N., Aldakheel, Amaal, Alkhairallah, Thamer, Al-tassan, Nada, Amami, Paolo, Leite, Marco Antonio Araujo, Ballalai Ferraz, Henrique, Bardien, Soraya, Barrett, Matthew J., Başak, A. Nazli, Bilgic, Basar, Bloem, Bastiaan R., Bonifati, Vincenzo, Brockmann, Kathrin, Cesarini, Martin Emiliano, Corvol, Jean Christophe, Dieguez, Elena, Fung, Victor S.C., Gatto, Emilia Mabel, Hattori, Nobutaka, Illarioshkin, Sergey, Januario, Cristina, Kaasinen, Valtteri, Kataoka, Hiroshi, Kievit, Anneke A., Klein, Christine, Lim, Jia Lun, May, Patrick, McCarthy, Allan, Morales Briceno, Hugo, Morris, Huw, Mosejova, Alexandra, Çakmak, Özgür Öztop, Orr-Urtreger, Avi, Pachchek, Sinthuja, Procopio, Radha, Ruiz-Martinez, Javier, Santos Pereira, João, Soto-Beasley, Alexandra I., Sousa, Mário, Thaler, Avner, Tepgeç, Fatih, Toda, Tatsushi, Uyguner, Zehra Oya, Walton, Ronald L., Wu, Yih-Ru, Wu, Ruey-Meei, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Parkinson's disease, Monogenic PD

وصف الملف: application/pdf

Relation: Movement Disorders; Vol. 38 Núm. 2 (01 2023), p. 286-303; https://ddd.uab.cat/record/303445; urn:10.1002/mds.29288; urn:oai:ddd.uab.cat:303445; urn:scopus_id:85147202939; urn:articleid:15318257v38n2p286; urn:pmid:36692014

الاتاحة: https://ddd.uab.cat/record/303445

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6

Academic Journal

A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect

المؤلفون: Berkay, Ezgi Gizem, Karaman, Birsen, Uyguner, Zehra Oya, Başaran, Seher

المساهمون: İstanbul Kent Üniversitesi, Fakülteler, Diş Hekimliği Fakültesi, Temel Bilimler Bölümü, orcid:0000-0002-1967-705X, Berkay, Ezgi Gizem

مصطلحات موضوعية: OOMD, Zona pellucida, ZP1, Female infertility, Exome sequencing, Kadın infertilesi, Ekzom dizileme

وصف الملف: application/pdf

Relation: Journal of Istanbul Faculty of Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://iupress.istanbul.edu.tr/en/journal/jmed/article/a-case-report-of-a-rare-nonsense-zp1-variant-in-a-patient-with-oocyte-maturation-defect; https://hdl.handle.net/20.500.12780/618; 86; 264; 267

الاتاحة: https://hdl.handle.net/20.500.12780/618
https://iupress.istanbul.edu.tr/en/journal/jmed/article/a-case-report-of-a-rare-nonsense-zp1-variant-in-a-patient-with-oocyte-maturation-defect

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7

Academic Journal

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients

المؤلفون: Gunes, Nilay, Usluer, Esra, Ulker, Aylin Yuksel, Alkaya, Dilek Uludag, Sunamak, Evrim Cifci, Eyupoglu, Figen Celep, Uyguner, Zehra Oya

مصطلحات موضوعية: Trichorhinophalangeal syndrome, TRPS1, brachydactyly, cone-shaped epiphyses, exostosis, Trps1 Gene, Missense Mutation, Apoptosis, Phenotype, Family

Relation: Turkish Archives Of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.5152/TurkArchPediatr.2022.22223; https://search.trdizin.gov.tr/yayin/detay/1172992; https://hdl.handle.net/20.500.12831/12369; 58; 98; 104; WOS:000925204800015; 2-s2.0-85146165027; 1172992

الاتاحة: https://doi.org/10.5152/TurkArchPediatr.2022.22223
https://search.trdizin.gov.tr/yayin/detay/1172992
https://hdl.handle.net/20.500.12831/12369

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8

Academic Journal

Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey

المؤلفون: Kalayci, Tugba, Altunoglu, Umut, Esmer, Aytul Corbacioglu, Avci, Sahin, Sivrikoz, Tugba Sarac, Karaman, Birsen, Kalelioglu, Ibrahim, Has, Recep, Uyguner, Zehra Oya, Yuksel, Atil, Basaran, Seher, Kayserili, Hulya

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A 191(2) 498-509

Relation: https://aperta.ulakbim.gov.tr/record/258007; oai:aperta.ulakbim.gov.tr:258007

الاتاحة: https://aperta.ulakbim.gov.tr/record/258007

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9

Academic Journal

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families

المؤلفون: Guven, Yeliz, Saracoglu, Hilal Piril, Aksakal, Sermin Dicle, Kalayci, Tugba, Altunoglu, Umut, Uyguner, Zehra Oya, Eraslan, Serpil, Borklu, Esra, Kayserili, Hulya

المصدر: BMC Oral Health ; volume 23, issue 1 ; ISSN 1472-6831

الاتاحة: http://dx.doi.org/10.1186/s12903-023-03029-4
https://link.springer.com/content/pdf/10.1186/s12903-023-03029-4.pdf
https://link.springer.com/article/10.1186/s12903-023-03029-4/fulltext.html

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10

Academic Journal

Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency

المؤلفون: Öztürk, Ayşe Pınar, Yavas Abali, Zehra, Aslanger, Ayça Dilruba, Bas, Firdevs, Toksoy, Güven, Karaman, Volkan, Bagirova, Gulandam, Poyrazoglu, Sukran, Uyguner, Zehra Oya, Darendeliler, Feyza

المصدر: Hormone Research in Paediatrics ; volume 97, issue 2, page 126-133 ; ISSN 1663-2818 1663-2826

الاتاحة: http://dx.doi.org/10.1159/000531113
https://karger.com/hrp/article-pdf/97/2/126/4190718/000531113.pdf

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11

Academic Journal

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases

المؤلفون: Gedikbasi, Asuman, Toksoy, Guven, Karaca, Meryem, Gulec, Cagri, Balci, Mehmet Cihan, Gunes, Dilek, Gunes, Seda, Aslanger, Ayca Dilruba, Unverengil, Gokcen, Karaman, Birsen, Basaran, Seher, Demirkol, Mubeccel, Gokcay, Gulden Fatma, Uyguner, Zehra Oya

المساهمون: Bilimsel Araştirma Projeleri Birimi, Istanbul Üniversitesi

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2023.1191159
https://www.frontiersin.org/articles/10.3389/fgene.2023.1191159/full

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12

Periodical

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye

المؤلفون: Dinçsoy Bir, Firdevs, Uyguner, Zehra Oya, Karaman, Birsen, Baykal, Can, Büyükbabani, Nesimi, Tüysüz, Beyhan, Gedikbaşı, Asuman, Uyanık, Bülent, Toksoy, Güven, Kara, Bülent, Kayserili, Hülya

المصدر: Molecular Syndromology; 20250101, Issue: Preprints p1-8, 8p

13

Academic Journal

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

المؤلفون: Yararbas, Kanay, Yilmaz, Mustafa, Tasdemir, Mehmet, Gunes, Meltem Cerrah, Boz, Mehmet, Bas, Hasan, Kenanoglu, Sercan, Ozcelik, Firat, Percin, E. Ferda, Ozkinay, Ferda, Altintas, Zuhal Mert, Dundar, Munis, Fahrioglu, Umut, Yildiz, Saliha Handan, Bakir-Gungor, Burcu, Temel, Sehime Gulsun, Akin, Haluk, Artan, Sevilhan, Cora, Tulin, Sahin, Feride Iffet, Dursun, Ahmet, Sezer, Ozlem, Altinay, Mert, Ergun, Sezen Guntekin, Gunduz, C. Nur Semerci, Terzi, Yunus Kasim, Geckinli, Bilgen Bilge, Bisgin, Atil, Kahraman, Cigdem Yuce, Yuksel, Berrin, Nur, Banu, Erdem, Levent, Gursoy, Sebnem, Demir, Mikail, Eraslan, Serpil, Durmaz, Asude, Silan, Fatma, Sarac, Elif, Aymelek, Huri Sema, Saatci, Cetin, Cankaya, Tufan, Yigit, Serbulent, Bahadir, Oguzhan, Tekes, Selahaddin, Kiranatlioglu, Kubra, Cetin, G. Ozan, Senel, Abdurrahman Soner, Yildirim, Mahmut Selman, Beyitler, Ilke, Thahir, Adam, Kisaarslan, Ayse Nur Pac, Ates, Esra Arslan, Bozdogan, Sevcan Tug, Duman, Nilgun, Ceylan, Ahmet Cevdet, Zamani, Aysegul, Bora, Elcin, Karaduman, Neslihan, Ergoren, Mahmut Cerkez, Onal, Muge Gulcihan, Yuce, Huseyin, Clark, Ozden Altiok, Ercal, Derya, Erguzeloglu, Cemre Ornek, Karakoyun, Hilal Keskin, Kocak, Nadir, Baskol, Mevlut, Tulay, Pinar, Ceylan, Gulay Gulec, Arman, Ahmet, Kaya, Niyazi, Balta, Burhan, Dogan, Berkcan, Bilge, Ilmay, Kutlay, Nuket Yurur, Bayramicli, Oya Uygur, Cogulu, Ozgur, Mihci, Ercan, Baysal, Kubra, Siniksaran, Betul Seyhan, Erdogan, Mujgan Ozdemir, Tuncel, Gulten, Temena, Arda, Dundar, Ayca, Ozkul, Yusuf, Tozkir, Hilmi, Toylu, Asli, Kocabey, Mehmet, Cevik, Muhammer Ozgur, Karabulut, Halil Gurhan, Coskun, Mert, Kale, Hamdi, Aykut, Ayca, Cilingir, Oguz, Caglayan, Ahmet Okay, Mardan, Lamiya, Acar, Aynur, Colak, Fatma Kurt, Kandemir, Nefise, Koc, Altug, Aliyeva, Lamiya, Erdogan, Murat, Kebudi, Rejin, Eroz, Recep, Onay, Huseyin, Sahin, Izem Olcay, Bayram, Arslan, Gonen, Gizem Akinci, Dundar, Bilge, Baskin, Esra Sidika, Poyrazoglu, Muammer Hakan, Boga, Ibrahim, Kazimli, Ulviyya, Zararsiz, Gozde Erturk, Nergiz, Suleyman, Sanri, Aslihan, Komesli, Zeynep, Demirtas, Mercan, Durmaz, Burak, Karaca, Emin, Beyazit, Serife Busra, Onder, Nerin Bahceciler, Emekli, Rabia, Solak, Mustafa, Gurakan, Figen, Uzel, Veysiye Hulya, Ozdemir, Sevda Yesim, Subasioglu, Asli, Atasever, Umut, Karasu, Nilgun, Demir, Huseyin, Dincer, Selin Akad, Sag, Sebnem Ozemri, Akalin, Hilal, Sayar, Ceyhan, Ulu, Memnune Sena, Genc, Gunes Cakmak, Erten, Sukran, Altunoglu, Umut, Tumer, Sait, Gokalp, Ebru Erzurumluoglu, Kavukcu, Salih, Kiraz, Aslihan, Duman, Yesim Sidar, Bagis, Haydar, Gurkan, Hakan, Yildirim, Malik Ejder, Haziyeva, Konul, Kabayegit, Zehra Manav, Kuru, Seda, Ulgenalp, Ayfer, Elmas, Muhsin, Tuncali, Timur, Kocagil, Sinem, Arslan, Serap, Em, Serda, Zeybel, Mujdat, Tosun, Ozgur, Aydin, Zafer, Susam, Ezgi, Ozkayin, Nese, Turkgenc, Burcu, Firat, Cem Koray, Kurt, E. Emre, Ruhi, Hatice Ilgin, Keklikci, Ali Riza, Tunc, Betul, Alemdar, Adem, Bozkaya, Ozlem Giray, Bozkurt, Gokay, Mocan, Gamze, Tatar, Abdulgani, Aras, Beyhan Durak, Emmungil, Hakan, Aynekin, Busra, Ergun, Mehmet Ali, Uyguner, Zehra Oya, Yalcintepe, Sinem, Altan, Mustafa, Calis, Mustafa, Kulak, Hande, Ozdemir, Ozturk

مصطلحات موضوعية: Familial Mediterranean fever, Genotype-phenotype correlations, MEFV, National Genetics Consortium, Protein Asc, Kappa-B, Mutations, Pyrin, Autoinflammation, Associations, Amyloidosis, Prevalence, Activation

Relation: Functional & Integrative Genomics; Makale - UluslararasÄ± Hakemli Dergi - Kurum Ã–ÄŸretim ElemanÄ±; https://hdl.handle.net/11499/46686; 22; 291; 315; WOS:000748447100001

الاتاحة: https://hdl.handle.net/11499/46686
https://doi.org/10.1007/s10142-021-00819-3

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14

Academic Journal

A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure

المؤلفون: Berkay, Ezgi Gizem, Soroğlu, Can Veysel, Kalaycı, Tuğba, Uyguner, Zehra Oya, Akçapınar, Günseli Bayram, Başaran, Seher

المساهمون: İstanbul Kent Üniversitesi, Fakülteler, Diş Hekimliği Fakültesi, Temel Bilimler Bölümü, orcid:0000-0002-1967-705X, Berkay, Ezgi Gizem

مصطلحات موضوعية: Pregnancy loss, Implantation failure, Variant analyses, Protein structure, Exome sequencing

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Berkay EG, Soroğlu CV, Kalaycı T, Uyguner ZO, Akçapınar GB, Başaran S. A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure. Molecular Genetics and Genomics (2023) 298(1): 253–272.; https://link.springer.com/article/10.1007/s00438-022-01972-5; https://doi.org/10.1007/s00438-022-01972-5; https://hdl.handle.net/20.500.12780/671; 298; 253; 272

الاتاحة: https://hdl.handle.net/20.500.12780/671
https://link.springer.com/article/10.1007/s00438-022-01972-5
https://doi.org/10.1007/s00438-022-01972-5

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