Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study S Groeneweg, FS van Geest, A Abacı, A Alcantud, GP Ambegaonkar, ... The Lancet Diabetes & Endocrinology 8 (7), 594-605, 2020 | 70 | 2020 |
Adrenocortical carcinoma in atypical Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2 M Eltan, EA Ates, K Cerit, TS Menevse, SB Kaygusuz, N Eker, P Bagci, ... Pediatric blood & cancer 67 (1), e28042, 2020 | 10 | 2020 |
Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency T Seven Menevse, Y Kendir Demirkol, B Gurpinar Tosun, E Bayramoglu, ... The Journal of Clinical Endocrinology & Metabolism 107 (5), e1924-e1931, 2022 | 7 | 2022 |
Catch-up growth and discontinuation of fludrocortisone treatment in aldosterone synthase deficiency B Gurpinar Tosun, Y Kendir Demirkol, T Seven Menevse, SB Kaygusuz, ... The Journal of Clinical Endocrinology & Metabolism 107 (1), e106-e117, 2022 | 6 | 2022 |
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume E Arslan Ates, M Eltan, B Sahin, B Gurpinar Tosun, T Seven Menevse, ... European journal of endocrinology 186 (5), K25-K31, 2022 | 4 | 2022 |
Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty T Kırkgöz, SB Kaygusuz, C Alavanda, D Helvacıoğlu, ZY Abalı, BG Tosun, ... Journal of Pediatric Endocrinology and Metabolism 36 (4), 401-408, 2023 | 3 | 2023 |
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C D Cicek, N Warr, G Yesil, H Kocak Eker, F Bas, S Poyrazoglu, ... European journal of endocrinology 186 (1), 65-72, 2022 | 2 | 2022 |
Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants A Francisco, AMY Goler, CDC Navarro, A Onder, M Yildiz, ... European Journal of Endocrinology 190 (2), 130-138, 2024 | 1 | 2024 |
Efficacy of the novel degludec/aspart insulin co-formulation in children and adolescents with type 1 diabetes: A real-life experience with one year of IDegAsp therapy in poorly … T Kırkgöz, M Eltan, SB Kaygusuz, ZY Abalı, D Helvacıoğlu, TS Menevşe, ... Journal of clinical research in pediatric endocrinology 14 (1), 10, 2022 | 1 | 2022 |
Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment T Seven Menevse, Y Iwasaki, Z Yavas Abali, B Gurpinar Tosun, ... Hormone Research in Paediatrics 97 (4), 404-415, 2024 | | 2024 |
Venous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment. Y Iwasaki, D Helvacioglu, Ö Dogru, O Bugdayci, SM Cyr, T Güran, ... Hormone Research in Paediatrics, 2023 | | 2023 |
Evaluation of Mitochondrial Bioenergetic Function in Mitochondrial and Type 1 Diabetes BG Tosun, A Francisco, CDC Navarro, TS Menevse, H Polat, BO Hismi, ... HORMONE RESEARCH IN PAEDIATRICS 96, 181-182, 2023 | | 2023 |
Lack of NAD(P) plus transhydrogenase activity in patients with primary adrenal insufficiency due to NNT mutations A Francisco, AMY Goler, CD Carvalho Navarro, A Onder, M Yildiz, ... HORMONE RESEARCH IN PAEDIATRICS 96, 79-79, 2023 | | 2023 |
Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature T Kirkgoz, S Abali, A Seker, B Gurpinar Tosun, M Eltan, D Helvacioglu, ... Hormone Research in Paediatrics, 1-11, 2023 | | 2023 |
Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central T KIRKGÖZ, S KAYGUSUZ, C Alavanda, D Helvacioglu, Z Abali, ... JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM 36 (4), 2023 | | 2023 |
Wide phenotypical spectrum with the same karyotype: Mixed gonadal dysgenesis T SEVEN MENEVŞE, B GÜRPINAR TOSUN, S DEMİRCİOĞLU, ... | | 2022 |
Wide phenotypical spectrum with the same karyotype: Mixed gonadal dysgenesis TS Menevse, BG Tosun, D Helvacioglu, ZY Abali, H Kirmizibekmez, ... HORMONE RESEARCH IN PAEDIATRICS 95 (SUPPL 2), 566-566, 2022 | | 2022 |
Glucagon response to hypoglycemia during extended oral glucose tolerance test in children with cystic fibrosis and comparing with healthy peers B HALİLOĞLU, T SEVEN MENEVŞE, B GÜRPINAR TOSUN, T GÜRAN, ... | | 2022 |
Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high normal testicular volume T Guran, EA Ates, M Eltan, B Sahin, BG Tosun, TS Menevse, BB Geckinli, ... SEXUAL DEVELOPMENT 16 (SUPPL 1), 61-62, 2022 | | 2022 |
Supplementary material to: Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study F van Geest, S Groeneweg, E van den Akker, I Bacos, D Barca, ... Journal of Clinical Endocrinology and Metabolism, 2021 | | 2021 |