المؤلفون: Rhythm Pharmaceuticals, Inc.

المصدر: Whole Genetic Approach in Early Genetic Identification of Obesity (WEGIO)

المصدر: A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation

المصدر: A Phase 3 Multi-Center, 1-Year, Open-Label Study of Setmelanotide in Pediatric Patients Aged 2 to <6 Years of Age With Rare Genetic Causes of Obesity

المساهمون: Shaghaf Alhallak, med student

المصدر: Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report
Ankleshwaria C, Prajapati B, Parmar S, Rathod V, Patel H, Dhorajiya D, Chavda N, Parmar K, Pathan F, Chauhan M. Bardet-Biedl Syndrome Presenting in Adulthood. Indian J Nephrol. 2022 Nov-Dec;32(6):633-636. doi: 10.4103/ijn.ijn_320_21. Epub 2022 Oct 2.
Oliaei F, Narimani H. Bardet-Biedl 9 Syndrome, A Rare Mutation. Iran J Kidney Dis. 2020 Mar;14(2):157-159.
Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE. Bardet-Biedl syndrome: a case series. J Med Case Rep. 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31.
Tsegaw A, Teshome T. Bardet-Biedl Syndrome in an Ethiopian. Int Med Case Rep J. 2021 Mar 19;14:177-181. doi: 10.2147/IMCRJ.S299421. eCollection 2021.
Shrinkhal, Singh A, Agrawal A, Mittal SK, Udenia H, Bandu GH. A rare case of Bardet-Biedl syndrome. Taiwan J Ophthalmol. 2019 Oct 17;10(2):138-140. doi: 10.4103/tjo.tjo_62_19. eCollection 2020 Apr-Jun.

المؤلفون: Lewandowski, Dominik, Gao, Fangyuan, Imanishi, Sanae, Tworak, Aleksander, Bassetto, Marco, Dong, Zhiqian, Pinto, Antonio, Tabaka, Marcin, Kiser, Philip, Imanishi, Yoshikazu, Skowronska-Krawczyk, Dorota, Palczewski, Krzysztof

المصدر: Journal of Biological Chemistry. 300(5)

مصطلحات موضوعية: Bardet-Biedl syndrome, PPARα signaling, RPE deposits, adiponectin receptor 1, age-related macular degeneration, ceramide synthesis inhibition, ceramides, fatty acid oxidation, fatty acid transport, lipid metabolism, omega-3 fatty acids, omega-6 fatty acids, polyunsaturated fatty acids, retinal degeneration, retinitis pigmentosa, Animals, Receptors, Adiponectin, Mice, Ceramides, Retina, Mice, Knockout, Fatty Acids, Unsaturated, Retinal Pigment Epithelium, Macular Degeneration

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7bp4f62z
https://escholarship.org/content/qt7bp4f62z/qt7bp4f62z.pdf

المؤلفون: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

المساهمون: Lisa Guay Woodford, Principal Investigator, MD

المصدر: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))

المؤلفون: Kentistou, K.A., Jernström, H., Ong, Ken K.

المصدر: Nature Genetics EpiHealth: Epidemiology for Health. 56(7):1397-1411

مصطلحات موضوعية: Adolescent, Animals, Child, Female, Gene Frequency, Genome-Wide Association Study, Humans, Menarche, Mice, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Puberty, Delayed, Precocious, Receptors, G-Protein-Coupled, cyclic nucleotide, follitropin, G protein coupled receptor, gonadorelin, histone demethylase, somatomedin, zinc finger protein, adult, animal experiment, Article, Bardet Biedl syndrome, bioluminescence resonance energy transfer, blood donor, chromatin immunoprecipitation, controlled study, DNA damage response, female, gene frequency, gene linkage disequilibrium, gene mapping, genetic risk score, happy puppet syndrome, human, hypogonadotropic hypogonadism, menopause, mouse, nonhuman, ovarian reserve, overlapping gene, precocious puberty, protein interaction, puberty, RNA sequencing, signal transduction, adolescent, animal, child, delayed puberty, genetics, genome-wide association study, menarche, multifactorial inheritance, single nucleotide polymorphism, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/75bc120b-b5f0-4c79-99c6-3d8ca9ac7cec
http://dx.doi.org/10.1038/s41588-024-01798-4

المؤلفون: Natalia Fourla, Nikolaos Drimalas, Ioannis Michael Vlastos

المصدر: Sinusitis, Vol 8, Iss 2, Pp 63-67 (2024)

مصطلحات موضوعية: Bardet–Biedl syndrome, ciliopathy, nasal polyps, bifid epiglottis, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2673-351X/8/2/8; https://doaj.org/toc/2673-351X

URL الوصول: https://doaj.org/article/bcd226ccad0e4b60bc84c0546bc98310

المؤلفون: Metin Cetiner, Ilja Finkelberg, Felix Schiepek, Lars Pape, Raphael Hirtz, Anja K. Büscher

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-22 (2024)

مصطلحات موضوعية: Bardet–Biedl syndrome, Shear wave elastography, Attenuation imaging coefficient, Shear wave dispersion, Hepatic steatosis, Liver fibrosis, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1b8199a635b84986a28267ea2cec97ed

المؤلفون: Agnieszka Murawska, Kamil Możdżeń, Grzegorz Horosin, Edward Pędziwiatr, Joanna Makowska, Jakub Pośpiech, Konrad Kaleta, Dorota Drożdż, Katarzyna Zachwieja

المصدر: Pediatria Polska, Vol 99, Iss 4, Pp 378-384 (2024)

مصطلحات موضوعية: case report, mutation, ciliopathy, bardet-biedl syndrome, ttc8, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Case-report-of-twins-with-Bardet-Biedl-syndrome-exhibiting-a-rare-mutation-in-the-TTC8-gene,127,54958,1,1.html; https://doaj.org/toc/0031-3939; https://doaj.org/toc/2300-8660

URL الوصول: https://doaj.org/article/2a94d7b1ff1b484e880c9d2e24e47ed3

المؤلفون: Azka Noor, Digbijay Kunwar, Zahra Tasneem, Saad Ameer Ishaq

المصدر: Clinical Case Reports, Vol 13, Iss 1, Pp n/a-n/a (2025)

مصطلحات موضوعية: Bardet‐Biedl syndrome, genetic testing, McKusick‐Kaufman syndrome, primary amenorrhea, reproductive anomalies, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/3afe735864e447499d2f68f335cea4da

المؤلفون: Lucía Guggeri, Ileana Sosa-Redaelli, Magdalena Cárdenas-Rodríguez, Martina Alonso, Gisell González, Hugo Naya, Victoria Prieto-Echagüe, Paola Lepanto, Jose L. Badano

المصدر: Adipocyte, Vol 13, Iss 1 (2024)

مصطلحات موضوعية: Adipose tissue, cilia, zebrafish, Bardet–Biedl syndrome, follistatin-like 1, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Cytology, QH573-671, Physiology, QP1-981

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2162-3945; https://doaj.org/toc/2162-397X

URL الوصول: https://doaj.org/article/b44af926083b4f2f94ebc55100f5afcf

المصدر: A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GA, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clement K, Argente J. Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alstrom syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period. Lancet Diabetes Endocrinol. 2022 Dec;10(12):859-868. doi: 10.1016/S2213-8587(22)00277-7. Epub 2022 Nov 7. Erratum In: Lancet Diabetes Endocrinol. 2023 Feb;11(2):e2. doi: 10.1016/S2213-8587(22)00360-6.
Haws RM, Gordon G, Han JC, Yanovski JA, Yuan G, Stewart MW. The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alstrom syndrome: Phase 3 trial design. Contemp Clin Trials Commun. 2021 May 3;22:100780. doi: 10.1016/j.conctc.2021.100780. eCollection 2021 Jun.

المساهمون: dr. Laura C. G. de Graaff-Herder, Principal investigator

المصدر: GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age

المؤلفون: Bakht Babar, Muqsit Ali Shaukat, Misbah Manzoor, Samina Bibi, Hashim Khan

المصدر: International Journal of Medical Students, Vol 12, Iss 2 (2024)

مصطلحات موضوعية: Bardet biedl syndrome, Laurence moon bardet biedl syndrome, Diabetes Mellitus, Medicine (General), R5-920, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://ijms.info/IJMS/article/view/1932; https://doaj.org/toc/2076-6327

URL الوصول: https://doaj.org/article/d30aeeb041aa443dbc0f6fbf8cf6806f

المؤلفون: Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang, Xiumin Wang

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: Bardet-Biedl syndrome (BBS), Rare disease, Next-generation sequencing, Gene variation, Genotype–phenotype correlation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/2eaf7a9dcdbe465184b42f9cf01c5e8d

المؤلفون: Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Ciliopathy, Bardet-biedl syndrome, Alström syndrome, Oral-facial-digital syndrome, Joubert syndrome, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/73060ee9b5c9490996048dfd21858c78

المؤلفون: Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P. M. Cremers, Susanne Roosing, Tamar Ben-Yosef

المصدر: Current Issues in Molecular Biology, Vol 46, Iss 3, Pp 2566-2575 (2024)

مصطلحات موضوعية: retina, retinitis pigmentosa, rod–cone dystrophy, BBS9, Bardet–Biedl syndrome, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/46/3/163; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/957bdc72c35d4714ac632f1170ffbc9d

المؤلفون: Tang, Vincent Duong, Egense, Alena, Yiu, Glenn, Meyers, Elijah, Moshiri, Ala, Shankar, Suma P

مصطلحات موضوعية: Alstrom syndrome, Bardet Biedl syndrome, Genetic testing, Genome sequencing, Refsum disease, Retinal dystrophies, Neurosciences, Clinical Research, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Brain Disorders, Eye Disease and Disorders of Vision, Genetics, Detection, screening and diagnosis, Aetiology, 4.2 Evaluation of markers and technologies, 2.1 Biological and endogenous factors, Eye

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5md1z5c6

المؤلفون: Pechhacker, Monika K Grudzinska, Jacobson, Samuel G, Drack, Arlene V, Di Scipio, Matteo, Strubbe, Ine, Pfeifer, Wanda, Duncan, Jacque L, Dollfus, Helene, Goetz, Nathalie, Muller, Jean, Vincent, Andrea L, Aleman, Tomas S, Tumber, Anupreet, Van Cauwenbergh, Caroline, De Baere, Elfride, Bedoukian, Emma, Leroy, Bart P, Maynes, Jason T, Munier, Francis L, Tavares, Erika, Saleh, Eman, Vincent, Ajoy, Heon, Elise

المصدر: Investigative Ophthalmology & Visual Science. 62(15)

مصطلحات موضوعية: Rare Diseases, Neurosciences, Eye Disease and Disorders of Vision, Clinical Research, Eye, Adolescent, Adult, Bardet-Biedl Syndrome, Chaperonins, Child, Child, Preschool, Electroretinography, Female, Humans, Male, Microtubule-Associated Proteins, Middle Aged, Mutation, Missense, Optical Imaging, Refraction, Ocular, Retina, Retinal Dystrophies, Retrospective Studies, Tomography, Optical Coherence, Visual Acuity, Visual Field Tests, Visual Fields, blindness, Bardet Biedl syndrome, retinal degeneration, genetics, natural history, end points, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4f15j5sp
https://escholarship.org/content/qt4f15j5sp/qt4f15j5sp.pdf