Hühne T, Polichronidou IM, Finkelberg I, et al.

Impact of the melanocortin-4 receptor agonist setmelanotide on MASLD and kidney function in Bardet-Biedl syndrome

J Clin Endocrinol Metab.
Published online September 4, 2025 · DOI: 10.1210/clinem/dgaf483

https://pubmed.ncbi.nlm.nih.gov/40903014

Beales PL, Cetiner M, Haqq AM, et al.

Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management

Obes Rev. 2025;26(7):e13915. · DOI: 10.1111/obr.13915

cbi.nlm.nih.gov/40186386/

Kieckhöfer E, Günzler J, Matthiessen PA, et al.

Loss of Bbs8 leads to cystic kidney disease in mice with reduced acetylation of ciliary alpha-tubulin through HDAC2

Preprint. bioRxiv. 2025;2024.03.07.583949.
Published: 2025 Jun 17. · DOI: 10.1101/2024.03.07.583949

https://pubmed.ncbi.nlm.nih.gov/40667253/

Finkelberg I, Polichronidou IM, Hühne T, et al.

Patient and caregiver experiences with a patient-support program for setmelanotide treatment of patients with Bardet-Biedl syndrome

Orphanet J Rare Dis. 2025;20(1):290.
Published 2025 Jun 8. · DOI: 10.1186/s13023-025-03835-9

https://pubmed.ncbi.nlm.nih.gov/40

Dollfus H, Lilien MR, Maffei P, et al.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Eur J Hum Genet. 2024;32(11):1347-1360. · DOI: 10.1038/s41431-024-01634-7

https://pubmed.ncbi.nlm.nih.gov/39085583

Cetiner M, Finkelberg I, Schiepek F, Pape L, Hirtz R, Büscher AK.

Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome

Orphanet J Rare Dis. 2024;19(1):425.
Published 2024 Nov 12. · DOI: 10.1186/s13023-024-03400-w

https://pubmed.ncbi.nlm.nih.gov/39533427

Cetiner M, Bergmann C, Bettendorf M, et al.

Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom
[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome]

Klin Padiatr. 2024;236(5):269-279. · DOI: 10.1055/a-2251-5382

https://pubmed.ncbi.nlm.nih.gov/38458231

Pape L, Cetiner M, König J, et al.

Bardet-Biedl syndrome. Monatsschr Kinderheilkd.

Published online 2024. · DOI: 10.1007/s00112-024-02030-7

https://link.springer.com/article/10.1007/s00112-024-02030-7

Cetiner M, Schiepek F, Finkelberg I, Hirtz R, Büscher AK.

Validation of attenuation imaging coefficient, shear wave elastography, and dispersion as emerging tools for non-invasive evaluation of liver tissue in children

Front Pediatr. 2023;11:1020690.
Published 2023 Apr 17. · DOI: 10.3389/fped.2023.1020690

https://pubmed.ncbi.nlm.nih.gov/37138563/

Dahmer-Heath M, Schriever V, Kollmann S, et al.

Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies

J Med Genet. 2021;58(9):629-636. · DOI: 10.1136/jmedgenet-2020-107192

https://pubmed.ncbi.nlm.nih.gov/32917769/

Gimpel C, Avni FE, Bergmann C, et al.

Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews.

JAMA Pediatr. 2018;172(1):74-86. · DOI: 10.1001/jamapediatrics.2017.3938
https://pubmed.ncbi.nlm.nih.gov/29181500/

Büscher AK, Cetiner M, Büscher R, Wingen AM, Hauffa BP, Hoyer PF

Obesity in patients with Bardet-Biedl syndrome: influence of appetite-regulating hormones

Pediatr Nephrol. 2012;27(11):2065-2071. · DOI: 10.1007/s00467-012-2220-y

https://pubmed.ncbi.nlm.nih.gov/22669322/