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Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient.
Published in:
Molecular Syndromology, 2021, v. 12, n. 6, p. 379, doi. 10.1159/000517370
By:
- Agaoglu, Nihat Bugra;
- Akgun Dogan, Ozlem
Publication type:
Article
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
Published in:
Molecular Syndromology, 2021, v. 12, n. 2, p. 106, doi. 10.1159/000513078
By:
- Ürel-Demir, Gizem;
- Aydın, Büşra;
- Karaosmanoğlu, Beren;
- Akgün-Doğan, Özlem;
- Taşkıran, Ekim Zihni;
- Şimşek-Kiper, Pelin Özlem;
- Utine, Gülen Eda;
- Boduroğlu, Koray
Publication type:
Article
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).
Published in:
Molecular Syndromology, 2020, v. 11, n. 1, p. 38, doi. 10.1159/000505141
By:
- Ürel-Demir, Gizem;
- akgün-Doğan, Özlem;
- Oğuz, Sümeyra;
- Güleray-Lafcı, Naz;
- Şimşek-Kiper, Pelin Özlem;
- Eda Utine, Gülen;
- alikaşifoğlu, Mehmet;
- Boduroğlu, Koray
Publication type:
Article
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity.
Published in:
Journal of Child Neurology, 2021, v. 36, n. 10, p. 816, doi. 10.1177/08830738211004736
By:
- Akgün-Doğan, Özlem;
- Simsek-Kiper, Pelin Ozlem;
- Taşkıran, Ekim;
- Schossig, Anna;
- Utine, Gülen Eda;
- Zschocke, Johannes;
- Boduroglu, Koray
Publication type:
Article
DNAJC21‐related thrombocytopenia in a young adult female.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 193, doi. 10.1002/ajmg.c.32043
By:
- Aslan, Deniz;
- Akgun‐Dogan, Ozlem;
- Ay, Beril;
- Çamurdan, Mahmut Orhun;
- Mancılar, Hanifenur;
- Alanay, Yasemin
Publication type:
Article
ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2474, doi. 10.1002/ajmg.a.61363
By:
- Akgun‐Dogan, Ozlem;
- Simsek‐Kiper, Pelin O.;
- Taskiran, Ekim;
- Lissewski, Christina;
- Brinkmann, Julia;
- Schanze, Denny;
- Göçmen, Rahşan;
- Cagdas, Deniz;
- Bilginer, Yelda;
- Utine, Gülen E.;
- Zenker, Martin;
- Ozen, Seza;
- Tezcan, İlhan;
- Alikasifoglu, Mehmet;
- Boduroğlu, Koray
Publication type:
Article
Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2009, doi. 10.1002/ajmg.a.40427
By:
- Simsek‐Kiper, Pelin O.;
- Taskiran, Ekim Z.;
- Kosukcu, Can;
- Urel‐Demir, Gizem;
- Akgun‐Dogan, Ozlem;
- Yilmaz, Guney;
- Utine, Gulen E.;
- Nishimura, Gen;
- Boduroglu, Koray;
- Alikasifoglu, Mehmet
Publication type:
Article
Clinical Utility of Molecular Autopsy in Fetal and Pediatric Patients with Suspected Genetic Disorders.
Published in:
Gümüshane Üniversitesi Saglik Bilimleri Dergisi, 2022, v. 11, n. 1, p. 82, doi. 10.37989/gumussagbil.1078850
By:
- AKGÜN-DOĞAN, Özlem;
- AĞAOĞLU, Nihat Buğra;
- ALANAY, Yasemin
Publication type:
Article
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.
Published in:
Journal of Cardiovascular Electrophysiology, 2022, v. 33, n. 2, p. 262, doi. 10.1111/jce.15306
By:
- Akgun‐Dogan, Ozlem;
- Ağaoğlu, Nihat B.;
- K. Demirkol, Yasemin;
- Doğanay, Levent;
- Ergül, Yakup;
- Karacan, Mehmet
Publication type:
Article
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Published in:
Diabetes, Obesity & Metabolism, 2023, v. 25, n. 7, p. 1950, doi. 10.1111/dom.15061
By:
- Yildirim Simsir, Ilgin;
- Tuysuz, Beyhan;
- Ozbek, Mehmet Nuri;
- Tanrikulu, Seher;
- Celik Guler, Merve;
- Karhan, Asuman Nur;
- Denkboy Ongen, Yasemin;
- Gunes, Nilay;
- Soyaltin, Utku Erdem;
- Altay, Canan;
- Nur, Banu;
- Ozalkak, Servan;
- Akgun Dogan, Ozlem;
- Dursun, Fatma;
- Pekkolay, Zafer;
- Eren, Mehmet Ali;
- Usta, Yusuf;
- Ozisik, Secil;
- Ozgen Saydam, Basak;
- Adiyaman, Suleyman Cem
Publication type:
Article
Clinical findings and molecular diagnosis in children with Bardet-Biedl Syndrome in Turkey: Identification of novel variants.
Published in:
Gulhane Medical Journal, 2022, v. 64, n. 2, p. 144, doi. 10.4274/gulhane.galenos.2021.73745
By:
- Akgün Doğan, Özlem;
- Buğra Ağaoğlu, Nihat
Publication type:
Article
Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 5, p. 657, doi. 10.1515/jpem-2021-0756
By:
- Kırmızıbekmez, Heves;
- Kendir Demirkol, Yasemin;
- Akgün Doğan, Özlem;
- Seymen, Gülcan;
- İnan Balcı, Elif;
- Atla, Pınar;
- Dursun, Fatma
Publication type:
Article
Anauxetic dysplasia: A rare clinical entity.
Published in:
Turkish Journal of Pediatrics, 2018, v. 60, n. 1, p. 89, doi. 10.24953/turkjped.2018.01.014
By:
- Akgün-Doğan, Özlem;
- Şimsek-Kiper, Pelin Özlem;
- Eda Utine, Gülen;
- Boduroğlu, Koray
Publication type:
Article
H syndrome with a novel homozygous SLC29A3 mutation in two sisters.
Published in:
Pediatric Dermatology, 2020, v. 37, n. 6, p. 1135, doi. 10.1111/pde.14322
By:
- Demir, Damla;
- Aktaş Karabay, Ezgi;
- Sözeri, Betül;
- Gürsoy, Fatıma;
- Akgün Doğan, Özlem;
- Topaktaş, Eylem;
- Zindancı, İlkin
Publication type:
Article
Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1412880
By:
- Yilmaz, Bengisu Guner;
- Akgun-Dogan, Ozlem;
- Ozdemir, Ozkan;
- Yuksel, Bayram;
- Ng, Ozden Hatirnaz;
- Bilguvar, Kaya;
- Ay, Beril;
- Ozkose, Gulsah Sebnem;
- Aydin, Eylul;
- Yigit, Ayca;
- Bulut, Aybike;
- Esen, Fatma Nisa;
- Beken, Serdar;
- Aktas, Selma;
- Demirel, Atalay;
- Arcagok, Baran Cengiz;
- Kazanci, Ebru;
- Bingol, İbrahim;
- Umur, Ozge;
- Sik, Guntulu
Publication type:
Article
Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1357365
By:
- Yilmaz, Kubra;
- Saygili, Seha;
- Canpolat, Nur;
- Akgun-Dogan, Ozlem;
- Yuruk Yildirim, Zeynep Nagehan;
- Cicek-Oksuz, Rumeysa Yasemin;
- Oner, Huseyin Adil;
- Aksu, Bagdagul;
- Akyel, Nazli Gulsum;
- Oguzhan-Hamis, Ozge;
- Dursun, Hasan;
- Yavuz, Sevgi;
- Cicek, Neslihan;
- Akinci, Nurver;
- Yilmaz, Esra Karabag;
- Agbas, Ayse;
- Nayir, Ahmet Nevzat;
- Konukoglu, Dildar;
- Kurugoglu, Sebuh;
- Sever, Lale
Publication type:
Article
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Published in:
Genes, 2023, v. 14, n. 6, p. 1179, doi. 10.3390/genes14061179
By:
- Parra, Alejandro;
- Rabin, Rachel;
- Pappas, John;
- Pascual, Patricia;
- Cazalla, Mario;
- Arias, Pedro;
- Gallego-Zazo, Natalia;
- Santana, Alfredo;
- Arroyo, Ignacio;
- Artigas, Mercè;
- Pachajoa, Harry;
- Alanay, Yasemin;
- Akgun-Dogan, Ozlem;
- Ruaud, Lyse;
- Couque, Nathalie;
- Levy, Jonathan;
- Porras-Hurtado, Gloria Liliana;
- Santos-Simarro, Fernando;
- Ballesta-Martinez, Maria Juliana;
- Guillén-Navarro, Encarna
Publication type:
Article
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1347474
By:
- Akgun-Dogan, Ozlem;
- Bengur, Ecenur Tuc;
- Ay, Beril;
- Ozkose, Gulsah Sebnem;
- Kar, Emre;
- Bengur, Fuat Baris;
- Bulut, Aybike S.;
- Yigit, Ayca;
- Aydin, Eylul;
- Esen, Fatma Nisa;
- Ozdemir, Ozkan;
- Yesilyurt, Ahmet;
- Alanay, Yasemin
Publication type:
Article

Found: 18