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Page 1
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.
Turan S, Mumm S, Alavanda C, Kaygusuz BS, Gurpinar Tosun B, Arman A, Huskey M, Guran T, Duan S, Bereket A, Whyte MP. Turan S, et al. Among authors: bereket a. JBMR Plus. 2022 Jul 28;6(8):e10663. doi: 10.1002/jbm4.10663. eCollection 2022 Aug. JBMR Plus. 2022. PMID: 35991533 Free PMC article.
Dysosteosclerosis (DSS), the term coined in 1968 for ultrarare dysplasia of the skeleton featuring platyspondyly with focal appendicular osteosclerosis, has become generic by encompassing the genetic heterogeneity recently reported for this phenotype. ...
Dysosteosclerosis (DSS), the term coined in 1968 for ultrarare dysplasia of the skeleton featuring platyspondyly with focal appendicu …
Adrenal steroids reference ranges in infancy determined by LC-MS/MS.
Enver EO, Vatansever P, Guran O, Bilgin L, Boran P, Turan S, Haklar G, Bereket A, Guran T. Enver EO, et al. Among authors: bereket a. Pediatr Res. 2022 Jul;92(1):265-274. doi: 10.1038/s41390-021-01739-5. Epub 2021 Sep 23. Pediatr Res. 2022. PMID: 34556810
METHODS: Age- and sex-specific plasma steroid concentrations were calculated in 324 healthy full-term neonates and infants (151 females). Percentile curves were devised. ...
METHODS: Age- and sex-specific plasma steroid concentrations were calculated in 324 healthy full-term neonates and infants (151 femal …
Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
Gurpinar Tosun B, Kendir Demirkol Y, Seven Menevse T, Kaygusuz SB, Ozbek MN, Altincik SA, Mammadova J, Cayir A, Doger E, Bayramoglu E, Nalbantoglu O, Yesiltepe Mutlu G, Aghayev A, Turan S, Bereket A, Guran T. Gurpinar Tosun B, et al. Among authors: bereket a. J Clin Endocrinol Metab. 2022 Jan 1;107(1):e106-e117. doi: 10.1210/clinem/dgab619. J Clin Endocrinol Metab. 2022. PMID: 34415991
As complete biochemical remission cannot be achieved, a long-term surveillance of these patients is required....
As complete biochemical remission cannot be achieved, a long-term surveillance of these patients is required....
Personalized approach to childhood obesity: Lessons from gut microbiota and omics studies. Narrative review and insights from the 29th European childhood obesity congress.
Gawlik A, Salonen A, Jian C, Yanover C, Antosz A, Shmoish M, Wasniewska M, Bereket A, Wudy SA, Hartmann MF, Thivel D, Matusik P, Weghuber D, Hochberg Z. Gawlik A, et al. Among authors: bereket a. Pediatr Obes. 2021 Oct;16(10):e12835. doi: 10.1111/ijpo.12835. Epub 2021 Jul 23. Pediatr Obes. 2021. PMID: 34296826 Review.
We hypothesize that diagnosing a child as someone with obesity captures only part of the phenotype; and that metabolomics, genomics, transcriptomics and analyses of the gut microbiome, could add precision to the term "obese," providing novel corresponding biomarkers. Ident …
We hypothesize that diagnosing a child as someone with obesity captures only part of the phenotype; and that metabolomics, genomics, transcr …
Postoperative and Long-Term Endocrinologic Complications of Craniopharyngioma.
Bereket A. Bereket A. Horm Res Paediatr. 2020;93(9-10):497-509. doi: 10.1159/000515347. Epub 2021 Apr 1. Horm Res Paediatr. 2020. PMID: 33794526 Free article. Review.
Hypopituitarism, increased cardiovascular risk, hypothalamic damage, hypothalamic obesity, visual and neurological deficits, and impaired bone health and cognitive function are the morbidities affecting the well-being of these patients in the long term. Key Messages: Timel …
Hypopituitarism, increased cardiovascular risk, hypothalamic damage, hypothalamic obesity, visual and neurological deficits, and impaired bo …
Cranial MRI Abnormalities and Long-term Follow-up of the Lesions in 770 Girls With Central Precocious Puberty.
Helvacıoğlu D, Demircioğlu Turan S, Güran T, Atay Z, Dağçınar A, Bezen D, Özturan EK, Darendeliler F, Yüksel A, Dursun F, Kılınç S, Semiz S, Abalı S, Yıldız M, Önder A, Bereket A. Helvacıoğlu D, et al. Among authors: bereket a. J Clin Endocrinol Metab. 2021 Jun 16;106(7):e2557-e2566. doi: 10.1210/clinem/dgab190. J Clin Endocrinol Metab. 2021. PMID: 33765130
Recently, the incidence of girls with CPP has increased mostly in 6-8 year olds, in whom the necessity of magnetic resonance imaging (MRI) is debated. OBJECTIVE: To investigate the frequency, long-term outcome and potential predictors of CNS lesions in a large cohort of gi …
Recently, the incidence of girls with CPP has increased mostly in 6-8 year olds, in whom the necessity of magnetic resonance imaging (MRI) i …
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.
Kaygusuz SB, Alavanda C, Kirkgoz T, Eltan M, Yavas Abali Z, Helvacioglu D, Guran T, Ata P, Bereket A, Turan S. Kaygusuz SB, et al. Among authors: bereket a. Calcif Tissue Int. 2021 May;108(5):576-586. doi: 10.1007/s00223-020-00784-2. Epub 2021 Jan 2. Calcif Tissue Int. 2021. PMID: 33386952 Review.
Here, we aimed to investigate clinical/genotypic features and long-term follow-up of 13 new cases with VDDR-IA and genotype-phenotype correlation of reported cases in the literature. ...Eight patients had reached their final height at the time of the study and, for whom, l …
Here, we aimed to investigate clinical/genotypic features and long-term follow-up of 13 new cases with VDDR-IA and genotype-phenotype …
Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation.
Gulcan-Kersin S, Kirkgoz T, Eltan M, Rzayev T, Ata P, Bilgen H, Ozek E, Bereket A, Turan S. Gulcan-Kersin S, et al. Among authors: bereket a. Horm Res Paediatr. 2020;93(5):313-321. doi: 10.1159/000510623. Epub 2020 Nov 4. Horm Res Paediatr. 2020. PMID: 33147586
We report a case with NSHPT diagnosed on the first day of life (DoL) and successfully treated with cinacalcet as the first-line treatment from the 2nd DoL up to the age of 18 months. CASE REPORT: A full-term baby evaluated for weight loss at postnatal 14th hour and found t …
We report a case with NSHPT diagnosed on the first day of life (DoL) and successfully treated with cinacalcet as the first-line treatment fr …
Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism.
Bugrul F, Abali ZY, Kirkgoz T, Cerit KK, Canmemis A, Turan S, Tugtepe H, Picard JY, Bereket A, Guran T. Bugrul F, et al. Among authors: bereket a. Sex Dev. 2019;13(5-6):264-270. doi: 10.1159/000510466. Epub 2020 Sep 19. Sex Dev. 2019. PMID: 32961540
PMDS is characterized by the presence of a uterus, fallopian tubes, cervix, and upper vagina in fully virilised 46,XY males. Both surgical management and long-term follow-up of these patients are challenging. Four cases with PMDS presented with cryptorchidism and inguinal …
PMDS is characterized by the presence of a uterus, fallopian tubes, cervix, and upper vagina in fully virilised 46,XY males. Both surgical m …
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
Demirbilek H, Cayir A, Flanagan SE, Yıldırım R, Kor Y, Gurbuz F, Haliloğlu B, Yıldız M, Baran RT, Akbas ED, Demiral M, Ünal E, Arslan G, Vuralli D, Buyukyilmaz G, Al-Khawaga S, Saeed A, Al Maadheed M, Khalifa A, Onal H, Yuksel B, Ozbek MN, Bereket A, Hattersley AT, Hussain K, De Franco E. Demirbilek H, et al. Among authors: bereket a. J Clin Endocrinol Metab. 2020 Dec 1;105(12):e4351-9. doi: 10.1210/clinem/dgaa613. J Clin Endocrinol Metab. 2020. PMID: 32893856 Free PMC article.
OBJECTIVE: To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A enhancer mutations. SETTING: Twelve tertiary pediatric endocrine referral centers. ...Our results expand the disease phenotype, identifying recurrent extrapancreati …
OBJECTIVE: To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A enhancer mutations. SETT …
26 results