Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Ozlem Akgun Dogan"'
Autor:
Ozden Hatirnaz Ng, Ilayda Sahin, Yucel Erbilgin, Ozkan Ozdemir, Emrah Yucesan, Nazli Erturk, Merve Yemenici, Ozlem Akgun Dogan, Sibel Aylin Ugur Iseri, Ilhan Satman, Yasemin Alanay, Ugur Ozbek
Publikováno v:
Frontiers in Public Health, Vol 10 (2023)
Rare disease patients constitute a significant part of the healthcare system of all countries. However, the information on the experiences during disease processes and daily life of rare disease patients is still limited. So far, there is a small num
Externí odkaz:
https://doaj.org/article/04f3831b7dfa494d8f90a8d3bad42d91
Autor:
Levent Doganay, Nihat Bugra Agaoglu, Arzu Irvem, Gizem Alkurt, Jale Yildiz, Betsi Kose, Yasemin Kendir, Ozlem Akgun Dogan, Gizem Dinler Doganay
Publikováno v:
İstanbul Kuzey Klinikleri, Vol 7, Iss 3, Pp 311-312 (2020)
NCI-2020-0130
Externí odkaz:
https://doaj.org/article/fa3278c4d5464a7bbfd02021d6782dfd
Autor:
Ilgin Yildirim Simsir, Beyhan Tuysuz, Mehmet Nuri Ozbek, Seher Tanrikulu, Merve Celik Guler, Asuman Nur Karhan, Yasemin Denkboy Ongen, Nilay Gunes, Utku Erdem Soyaltin, Canan Altay, Banu Nur, Servan Ozalkak, Ozlem Akgun Dogan, Fatma Dursun, Zafer Pekkolay, Mehmet Ali Eren, Yusuf Usta, Secil Ozisik, Basak Ozgen Saydam, Suleyman Cem Adiyaman, Mehmet Cagri Unal, Gokcen Gungor Semiz, Ihsan Turan, Erdal Eren, Hulya Kayserili, Isabelle Jeru, Corinne Vigouroux, Tahir Atik, Huseyin Onay, Samim Ozen, Elif Arioglu Oral, Baris Akinci
Aim: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. Methods: This study reports on 72 patients with GL (47 families) registered at different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8d0fd4a5c946862cce5364ffbbd6bd
https://avesis.deu.edu.tr/publication/details/497e612a-1225-4cce-8c09-189e93672690/oai
https://avesis.deu.edu.tr/publication/details/497e612a-1225-4cce-8c09-189e93672690/oai
Autor:
Lapunzina, Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo
Publikováno v:
Genes; Volume 14; Issue 6; Pages: 1179
SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan–Lumish syndrome (LLS), intellectual developmental disorder,
Autor:
Deniz Aslan, Ozlem Akgun‐Dogan, Beril Ay, Mahmut Orhun Çamurdan, Hanifenur Mancılar, Yasemin Alanay
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
Autor:
null Ilgin Yildirim Simsir, null Beyhan Tuysuz, null Mehmet Nuri Ozbek, null Seher Tanrikulu, null Merve Celik Guler, null Asuman Nur Karhan, null Yasemin Denkboy Ongen, null Nilay Gunes, null Utku Erdem Soyaltin, null Canan Altay, null Banu Nur, null Servan Ozalkak, null Ozlem Akgun Dogan, null Fatma Dursun, null Zafer Pekkolay, null Mehmet Ali Eren, null Yusuf Usta, null Secil Ozisik, null Basak Ozgen Saydam, null Suleyman Cem Adiyaman, null Mehmet Cagri Unal, null Gokcen Gungor Semiz, null Ihsan Turan, null Erdal Eren, null Hulya Kayserili, null Isabelle Jeru, null Corinne Vigouroux, null Tahir Atik, null Huseyin Onay, null Samim Ozen, null Elif A. Oral, null Baris Akinci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01db91016594b1eb67c4f96799aa4507
https://doi.org/10.1111/dom.15061/v2/response1
https://doi.org/10.1111/dom.15061/v2/response1
Autor:
Nihat Bugra Agaoglu, Busra Unal, Ozlem Akgun Dogan, Payam Zolfagharian, Pari Sharifli, Aylin Karakurt, Burak Can Senay, Tugba Kizilboga, Jale Yildiz, Gizem Dinler Doganay, Levent Doganay
Publikováno v:
Expert Review of Molecular Diagnostics. 22:239-246
Copy number variations (CNVs) are commonly associated with malignancies, including hereditary breast and ovarian cancers. Next generation sequencing (NGS) provides solutions for CNV detection in a single run. This study aimed to compare the accuracy
Autor:
Yasemin Kendir Demirkol, Nihat Bugra Agaoglu, Mehmet Karacan, Ozlem Akgun-Dogan, Levent Doganay, Yakup Ergül
Publikováno v:
Journal of Cardiovascular Electrophysiology. 33:262-273
INTRODUCTION LQTS is of great importance as it is the most common cause of sudden cardiac death in childhood. The diagnosis is made by the prolongation of the QTc interval on the ECG. However, clinical heterogeneity and non-diagnostic QTc intervals m
Autor:
Nihat Bugra Agaoglu, Ozlem Akgun Dogan
Publikováno v:
Molecular Syndromology. 12:379-385
The 3MC syndrome is a rare autosomal recessive syndrome characterized by facial dysmorphism, multiple congenital abnormalities, and postnatal growth deficiency. Hypertelorism, blepharophimosis, blepharoptosis, high-arched eyebrows, and cleft lip/pala
Autor:
Nihat Bugra Agaoglu, Ozden Hatirnaz Ng, Busra Unal, Ozlem Akgun Dogan, Ufuk Amanvermez, Jale Yildiz, Levent Doganay, Arezou A. Ghazani, Huma Q. Rana
Publikováno v:
Cancer genetics.
Concurrent pathogenic variants (PVs) in cancer predisposition genes have been reported in 0.1-2% of hereditary cancer (HC) patients. Determining concurrent PVs is crucial for the diagnosis, treatment, and risk assessment of unaffected family members.