NF-[kappa] B and MAPKs are involved in resistin-caused ADAMTS-5 induction in human chondrocytes OF Hatipoglu, KO Yaykasli, M Dogan, E Yaykasli, O Bender, T Yasar, ... Clinical and Investigative Medicine (Online) 38 (4), E248, 2015 | 15 | 2015 |
Yeni Nesil Dizileme (YND) hakkında bilinenler (literatür taraması) M DOĞAN, E Recep, Y Hüseyin, R ÖZMERDİVENLİ Duzce Medical Journal 19 (1), 27-30, 2017 | 10 | 2017 |
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c. 3524C> G (p. Ser1175Cys)) variant in PNPLA6 gene M Doğan, R Eröz, E Öztürk Ophthalmic Genetics 42 (3), 276-282, 2021 | 8 | 2021 |
Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder M Dogan, K Teralı, R Eroz, H Demirci, K Kocabay Molecular Biology Reports 48, 701-708, 2021 | 7 | 2021 |
Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel M Doğan, R Eröz, S Bolu, H Yüce, A Gezdirici, İ Arslanoğlu, K Teralı Molecular Biology Reports 49 (8), 7483-7495, 2022 | 6 | 2022 |
Clinical and molecular findings in a Turkish family who had a (c. 869-1G> A) splicing variant in PSEN1 gene with a rare condition: the variant alzheimer's disease with spastic … M Doğan, R Eröz, M Tecellioğlu, A Gezdirici, I Barış Current Alzheimer Research 19 (3), 223-235, 2022 | 6 | 2022 |
Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Young S Bolu, R Eroz, M Dogan, I Arslanoglu, I Dundar Indian Pediatrics 57, 1037-1039, 2020 | 6 | 2020 |
Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity M Doğan, R Eröz, K Terali, A Gezdirici, S Bolu Molecular Biology Reports 48 (2), 1465-1474, 2021 | 5 | 2021 |
Atypical presentation in patients with 17 α-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature S Bolu, R Eröz, M Tekin, M Doğan Turk J Pediatr 62 (5), 851-7, 2020 | 5 | 2020 |
A seven years old girl with Klippel-Feil Syndrome, bilateral sprengel deformity, congenital unilateral renal agenesis and a heterozygous mutation M680I (G> C) in the MEFV gene E Recep, M DOĞAN, B Semih, Y Hüseyin Konuralp Medical Journal 9 (2), 167-170, 2017 | 5 | 2017 |
A family with novel homozygous deletion mutation (c. 1255delT; p. Phe419Serfs* 12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus S Bolu, R Eröz, M Doğan, İ Arslanoğlu, H Uzun, F Timur Turkish Archives of Pediatrics/Türk Pediatri Arşivi 55 (4), 434, 2020 | 4 | 2020 |
MEFV Geni 761_764dupCCGC p. Asn256Argfs70, c. 761_764dupCCGC Mutasyonlu Türkiyeden Bir Aile, Onların Klinik Özellikleri ve Literatür Taraması. R Eroz, M Dogan, H Yuce, R Ozmerdivenli Konuralp Medical Journal/Konuralp Tip Dergisi 8 (3), 2016 | 4 | 2016 |
A Turkish Family with A89T (p. Ala89Thr, c. 265G> A) Mutation on The MEFV Gene, Their Clinical Findings and Review of The Literature R ERÖZ, M DOĞAN, H YÜCE, K KOCABAY, E YÜKSEL Fırat Üniversitesi Sağlık Bilimleri Tıp Dergisi 30 (2), 67-70, 2016 | 4 | 2016 |
Deficiency of alkaline ceramidase 3 with infancy-onset progressive leukoencephalopathy: a second case report H Kilic, M Dogan, S Sahin, S Saltik, C Yalcinkaya Acta Neurologica Belgica 121 (6), 1867-1870, 2021 | 2 | 2021 |
The relationship between phenotypical findings and different karyotypes in children with turner syndrome S Bolu, R Eroz, I Arslanoglu, M Dogan | 2 | 2021 |
MEFV GENİNDE S288Y (P. SER863TYR, C. 863 C> A) MUTASYONU VE KLİNİĞİNİN ARAŞTIRILMASI M Doğan, K Kocabay, E Gün, R Özmerdivenli, R Eröz Duzce Medical Journal 18 (2), 66-68, 2016 | 2 | 2016 |
Leptin induction of aggrecanases-1 and-2 genes expression in human chondrocytes is mediated by p38 mitogen-activated protein kinase pathway (CCR5P. 265) O Hatipoglu, K Yaykasli, M Dogan, E Yaykasli, E Kaya, M Ozsahin, M Uslu The Journal of Immunology 192 (1_Supplement), 181.19-181.19, 2014 | 2 | 2014 |
Turner sendromu ve alopesi universalis birlikteliği: 45, X/46, X, i (X)(q10) karyotipli bir olgu K Murat, M Doğan Ortadoğu Tıp Dergisi 11 (4), 631-633, 2019 | 1 | 2019 |
Biyotinidaz Eksikliği Şüphesiyle Başvuran Hastaların Klinik Bulguları ve BTD Geni Moleküler Analizi Sonuçları E Recep, B TURAN, M DOĞAN, Y Hüseyin, K KOCABAY, ... Duzce Medical Journal 20 (3), 77-80, 2018 | 1 | 2018 |
Turner Sendromlu Olgularımızın Karyotip Kompozisyonlarının Başvuru Şikayetleri ve Antropometrik Verileri ile Birlikte Değerlendirilmesi M Dogan, E Recep, B Semih, Y Hüseyin Konuralp Medical Journal 10 (2), 248-252, 2018 | 1 | 2018 |