Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Seher Başaran"'
Autor:
Aslı Derya Kardelen, Adam Najaflı, Firdevs Baş, Birsen Karaman, Güven Toksoy, Şükran Poyrazoğlu, Şahin Avcı, Umut Altunoğlu, Zehra Yavaş Abalı, Ayşe Pınar Öztürk, Esin Karakılıç Özturan, Seher Başaran, Feyza Darendeliler, Z. Oya Uyguner
Publikováno v:
JCRPE, Vol 15, Iss 4, Pp 338-347 (2023)
INTRODUCTION: 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 i
Externí odkaz:
https://doaj.org/article/18a4807ddfcf44a1a51a2d2bcc230afd
Autor:
Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendeliler
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 153-171 (2022)
INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the de
Externí odkaz:
https://doaj.org/article/860a70dc14c9409aacfb6b3de305c261
Publikováno v:
Gynecology Obstetrics & Reproductive Medicine, Vol 13, Iss 2 (2007)
Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described for 12p, 18p and 9p. To date, approximately 30 patients have been described with a tetrasomy 9p, majority of cases being mosaics. We present a new case of
Externí odkaz:
https://doaj.org/article/4aaf801d0b3b4a8f94b3e546e779fbe3
Publikováno v:
Experimed. 12:149-154
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4eadcf7cc6363cbf92597f76448fcaa4
https://doi.org/10.26650/experimed.1188882
https://doi.org/10.26650/experimed.1188882
Autor:
Gozde Tutku Turgut, Umut Altunoglu, Tugba Sarac Sivrikoz, Guven Toksoy, Tuğba Kalaycı, Şahin Avcı, Birsen Karaman, Cagri Gulec, Seher Başaran, Gözde Yeşil Sayın, Hulya Kayserili, Zehra Oya Uyguner
Publikováno v:
Clinical Genetics. 101:421-428
Multiple congenital contractures (MCC) comprise a number of rare, non-progressive conditions displaying marked phenotypic and etiologic heterogeneity. A genetic cause can be established in approximately half of the affected individuals, attributed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37c87a7056cc69207c86978b1bb84b4d
https://doi.org/10.1111/cge.14117
https://doi.org/10.1111/cge.14117
Autor:
Tugba Kalayci, Umut Altunoglu, Aytul Çorbacioglu Esmer, Şahin Avcı, Tugba Sarac Sivrikoz, Birsen Karaman, İbrahim Kalelioğlu, Recep Has, Zehra Oya Uyguner, Atıl Yüksel, Seher Başaran, Hülya Kayserili
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5871f866c4199f3eb1600333e9a66475
https://pubmed.ncbi.nlm.nih.gov/36398383
https://pubmed.ncbi.nlm.nih.gov/36398383
Autor:
Ayça Aslanger, Tuğba Kalaycı, Esma Konur, Çağrı Güleç, Şahin Avcı, Umut Altunoğlu, Volkan Karaman, Güven Toksoy, Birsen Karaman, Seher Başaran, Zehra Uyguner, Gözde Yeşil Sayın
Publikováno v:
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2399b31a81c199ac94d349e9d57b17f4
https://doi.org/10.26650/iuitfd.1130578
https://doi.org/10.26650/iuitfd.1130578
Publikováno v:
Sağlık Bilimlerinde İleri Araştırmalar Dergisi / Journal of Advanced Research in Health Sciences.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66feee6f8e9ca7c9dd8179fa52d80a0e
https://doi.org/10.26650/jarhs2022-107813
https://doi.org/10.26650/jarhs2022-107813
Autor:
Atıl Yüksel, Ibrahim Kalelioglu, Birsen Karaman, Tuğba Saraç Sivrikoz, Melike Kirgiz, Seher Başaran, Umut Altunoglu, Recep Has
Publikováno v:
Archives of Gynecology and Obstetrics. 305:323-342
We aimed to present the fetal ultrasound, cytogenetic/molecular testing and postmortem or postnatal clinical findings of cases with 22q11.2DS diagnosed prenatally. A retrospective medical record review of 48 prenatal cases diagnosed with 22q11.2DS we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::665cccc8d3950acfab74a348cce6fa18
https://doi.org/10.1007/s00404-021-06125-4
https://doi.org/10.1007/s00404-021-06125-4
Autor:
Ezgi Gizem Berkay, Can Veysel Şoroğlu, Tuğba Kalaycı, Zehra Oya Uyguner, Günseli Bayram Akçapınar, Seher Başaran
Publikováno v:
Molecular genetics and genomics : MGG.
Recurrent pregnancy loss (RPL) and implantation failure (RIF) are obstacles to livebirth and multifactorial conditions in which nearly half of the cases remain unexplained, and we aimed to identify maternal candidate gene variants and pathways for RP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9058995b36930a01ffc25a4670ea679
https://pubmed.ncbi.nlm.nih.gov/36385415
https://pubmed.ncbi.nlm.nih.gov/36385415