Research & Literature

Ibuprofen-associated acute kidney injury in dehydrated children with acute gastroenteritis.

Balestracci A, Ezquer M, Elmo ME, et al.

Pediatric nephrology (Berlin, Germany) 2015; (30(10)):1873-8 doi:10.1007/s00467-015-3105-7.

Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

Kerr EN, Bhan A, Héon E

Clinical genetics 2016; (89(4)):426-433 doi:10.1111/cge.12614.

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

Angulo MA, Butler MG, Cataletto ME

Journal of endocrinological investigation 2015; (38(12)):1249-63 doi:10.1007/s40618-015-0312-9.

Renal dysplasia in Bardet-Biedl syndrome.

Ristoska Bojkovska N, Spahiu L, Janchevska A, et al.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) 2015; (36(1)):211-5.

Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).

Knockenhauer KE, Schwartz TU

The Journal of biological chemistry 2015; (290(32)):19569-83 doi:10.1074/jbc.M115.649202.

[Prader-Willi syndrome in 2015].

Tauber M, Thuilleaux D, Bieth É

Medecine sciences : M/S 2015; (31(10)):853-60 doi:10.1051/medsci/20153110011.

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.

Kim MK, Kwak SH, Kang S, et al.

Diabetes & metabolism journal 2015; (39(5)):439-43 doi:10.4093/dmj.2015.39.5.439.

Anesthetic considerations for patients with Bardet-Biedl syndrome: a case series and review of the literature.

Smith BB, Barbara DW, Hyder JA, Smith MM

Paediatric anaesthesia 2016; (26(4)):429-37 doi:10.1111/pan.12848.

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.

Khan MA, Mohan S, Zubair M, Windpassinger C

BMC medical genetics 2016; (17()):10 doi:10.1186/s12881-016-0271-9.

Renal transplantation in Bardet-Biedl Syndrome.

Haws RM, Joshi A, Shah SA, et al.

Pediatric nephrology (Berlin, Germany) 2016; (31(11)):2153-61 doi:10.1007/s00467-016-3415-4.

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Forsythe E, Sparks K, Best S, et al.

Journal of the American Society of Nephrology : JASN 2017; (28(3)):963-970 doi:10.1681/ASN.2015091029.

Epidemiology of Acute Kidney Injury in Critically Ill Children and Young Adults.

Kaddourah A, Basu RK, Bagshaw SM, et al.

The New England journal of medicine 2017; (376(1)):11-20 doi:10.1056/NEJMoa1611391.

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

Esposito G, Testa F, Zacchia M, et al.

BMC medical genetics 2017; (18(1)):10 doi:10.1186/s12881-017-0372-0.

Sleep disordered breathing in Bardet-Biedl Syndrome.

Yeung JC, Katwa UA, Lee GS

International journal of pediatric otorhinolaryngology 2017; (102()):127-132 doi:10.1016/j.ijporl.2017.09.004.

Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.

Weihbrecht K, Goar WA, Pak T, et al.

Medical research archives 2017; (5(9)) doi:10.18103/mra.v5i9.1526.

BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex.

Nozaki S, Katoh Y, Kobayashi T, Nakayama K

PloS one 2018; (13(3)):e0195005 doi:10.1371/journal.pone.0195005.

Ciliopathy: Bardet-Biedl Syndrome.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2018; (1085()):171-174 doi:10.1007/978-3-319-95046-4_33.

Oliguria and Acute Kidney Injury in Critically Ill Children: Implications for Diagnosis and Outcomes.

Kaddourah A, Basu RK, Goldstein SL, et al.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2019; (20(4)):332-339 doi:10.1097/PCC.0000000000001866.

Asymptomatic Versus Symptomatic Idiopathic Intracranial Hypertension in Children.

Gondi KT, Chen KS, Gratton SM

Journal of child neurology 2019; (34(12)):751-756 doi:10.1177/0883073819858455.

Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.

Niederlova V, Modrak M, Tsyklauri O, et al.

Human mutation 2019; (40(11)):2068-2087 doi:10.1002/humu.23862.

Bardet-Biedl Syndrome with a Kidney Transplant, Esophageal Adenocarcinoma, and Postoperative Complications.

Yankov G, Mihalova T, Petkov R, et al.

Case reports in surgery 2019; (2019()):8983174 doi:10.1155/2019/8983174.

Requirement of IFT-B-BBSome complex interaction in export of GPR161 from cilia.

Nozaki S, Castro Araya RF, Katoh Y, Nakayama K

Biology open 2019; (8(9)) doi:10.1242/bio.043786.

Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.

Ludlam WG, Aoba T, Cuéllar J, et al.

The Journal of biological chemistry 2019; (294(44)):16385-16399 doi:10.1074/jbc.RA119.010150.

Renal features of Bardet Biedl syndrome: A single center experience.

Atmış B, Karabay-Bayazıt A, Melek E, et al.

The Turkish journal of pediatrics 2019; (61(2)):186-192.

[The Bardet-Biedl Syndrome - Diagnosis and Follow-up].

Rohrschneider K, Bolz HJ

Klinische Monatsblatter fur Augenheilkunde 2020; (237(3)):239-247 doi:10.1055/a-1118-3748.

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.

Gouronc A, Zilliox V, Jacquemont ML, et al.

Clinical genetics 2020; (98(2)):166-171 doi:10.1111/cge.13768.

Update in Pediatric Pseudotumor Cerebri Syndrome.

Beres SJ

Seminars in neurology 2020; (40(3)):286-293 doi:10.1055/s-0040-1708847.

[Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies].

Gimpel C, Bergmann C, Brinkert F, et al.

Klinische Padiatrie 2020; (232(5)):228-248 doi:10.1055/a-1179-0728.

Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.

Pomeroy J, Krentz AD, Richardson JG, et al.

Pediatric obesity 2021; (16(2)):e12703 doi:10.1111/ijpo.12703.

Anesthetic management of a patient with Bardet-Biedl syndrome undergoing renal transplantation: A case report.

Yaman F, Çekmen N

Medicine 2020; (99(38)):e22300 doi:10.1097/MD.0000000000022300.

Acute kidney injury in children hospitalized for acute gastroenteritis: prevalence and risk factors.

Marzuillo P, Baldascino M, Guarino S, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(6)):1627-1635 doi:10.1007/s00467-020-04834-7.

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.

Hey CAB, Larsen LJ, Tümer Z, et al.

International journal of molecular sciences 2021; (22(3)) doi:10.3390/ijms22031345.

Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.

Zacchia M, Blanco FDV, Torella A, et al.

Clinical kidney journal 2021; (14(6)):1545-1551 doi:10.1093/ckj/sfaa182.

Novel homozygous protein-truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet-Biedl syndrome.

Tang HY, Xie F, Dai RC, Shi XL

Molecular genetics & genomic medicine 2021; (9(8)):e1731 doi:10.1002/mgg3.1731.

Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet-Biedl Syndrome.

Dormegny L, Velizarova R, Schroder CM, et al.

Nature and science of sleep 2021; (13()):1913-1919 doi:10.2147/NSS.S320660.

Papilledema: A review of etiology, pathophysiology, diagnosis, and management.

Xie JS, Donaldson L, Margolin E

Survey of ophthalmology 2022; (67(4)):1135-1159 doi:10.1016/j.survophthal.2021.11.007.

Identification of a Novel Homozygous Mutation in BBS10 Gene in an Iranian Family with Bardet-Biedl Syndrome.

Dehani M, Zare-Abdollahi D, Bushehri A, et al.

Avicenna journal of medical biotechnology 2021; (13(4)):230-233.

Kidney failure in Bardet-Biedl syndrome.

Meyer JR, Krentz AD, Berg RL, et al.

Clinical genetics 2022; (101(4)):429-441 doi:10.1111/cge.14119.

Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families.

Akbaroghli S, Kooshavar D, Golchehre Z, et al.

Iranian journal of child neurology 2022; (16(1)):123-133 doi:10.22037/ijcn.v16i1.31650.

Idiopathic intracranial hypertension in a child with Bardet-Biedl syndrome.

Yu AT, Shah SP

Ophthalmic genetics 2022; (43(4)):534-537 doi:10.1080/13816810.2022.2050767.

Bardet-Biedl syndrome: a case series.

Elawad OAMA, Dafallah MA, Ahmed MMM, et al.

Journal of medical case reports 2022; (16(1)):169 doi:10.1186/s13256-022-03396-6.

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Nasser F, Kohl S, Kurtenbach A, et al.

Genes 2022; (13(7)) doi:10.3390/genes13071218.

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.

Haqq AM, Chung WK, Dollfus H, et al.

The lancet. Diabetes & endocrinology 2022; (10(12)):859-868 doi:10.1016/S2213-8587(22)00277-7.

Diabetes mellitus in Bardet Biedl syndrome.

Pomeroy J, Offenwanger KM, Timmler T

Current opinion in endocrinology, diabetes, and obesity 2023; (30(1)):27-31 doi:10.1097/MED.0000000000000788.

Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.

Morohashi T, Hayashi T, Mizobuchi K, et al.

Documenta ophthalmologica. Advances in ophthalmology 2023; (146(2)):165-171 doi:10.1007/s10633-022-09915-6.

Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome.

Ervin C, Norcross L, Mallya UG, et al.

Advances in therapy 2023; (40(5)):2394-2411 doi:10.1007/s12325-023-02443-y.

An evaluation of setmelanotide injection for chronic weight management in adult and pediatric patients with obesity due to Bardet-Biedl syndrome.

Lazareva J, Brady SM, Yanovski JA

Expert opinion on pharmacotherapy 2023; (24(6)):667-674 doi:10.1080/14656566.2023.2199152.

Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey.

Forsythe E, Mallya UG, Yang M, et al.

Orphanet journal of rare diseases 2023; (18(1)):182 doi:10.1186/s13023-023-02723-4.

Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population.

Abawi O, Wahab RJ, Kleinendorst L, et al.

The Journal of pediatrics 2023; (262()):113619 doi:10.1016/j.jpeds.2023.113619.

Early development and adaptive functioning in children with Bardet-Biedl syndrome.

Keifer E, Berg RL, Richardson JG, Haws RM

American journal of medical genetics. Part A 2024; (194(1)):31-38 doi:10.1002/ajmg.a.63391.

Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alström and Bardet-Biedl Syndromes.

Waszczykowska A, Jeziorny K, Barańska D, et al.

Genes 2023; (14(9)) doi:10.3390/genes14091784.

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China.

Xin-Yi Z, Yang-Li D, Ling-Hui Z

Frontiers in genetics 2023; (14()):1247557 doi:10.3389/fgene.2023.1247557.

Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.

Shoemaker A

Diabetes, obesity & metabolism 2024; (26 Suppl 2()):25-33 doi:10.1111/dom.15494.

[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].

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

Klinische Padiatrie 2024; (236(5)):269-279 doi:10.1055/a-2251-5382.

Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.

Deitch I, Itskov S, Panneman D, et al.

Current issues in molecular biology 2024; (46(3)):2566-2575 doi:10.3390/cimb46030163.

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.

Gao S, Zhang Q, Ding Y, et al.

Orphanet journal of rare diseases 2024; (19(1)):149 doi:10.1186/s13023-024-03150-9.

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.

Yu QX, Liu N, Zhen L, et al.

Prenatal diagnosis 2024; (44(9)):1105-1110 doi:10.1002/pd.6619.

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

Milibari D, Nowilaty SR, Ba-Abbad R

Genes 2024; (15(6)) doi:10.3390/genes15060762.

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

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

European journal of human genetics : EJHG 2024; (32(11)):1347-1360 doi:10.1038/s41431-024-01634-7.

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.

Nowak-Ciołek M, Ciołek M, Tomaszewska A, et al.

Frontiers in endocrinology 2024; (15()):1424819 doi:10.3389/fendo.2024.1424819.

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.

Orlova M, Gundorova P, Kadnikova V, Polyakov A

Frontiers in genetics 2024; (15()):1419025 doi:10.3389/fgene.2024.1419025.

Unveiling the Spectrum of Otorhinolaryngological Manifestations in Siblings With Bardet-Biedl Syndrome: A Report of Two Cases.

Padmanabhan K, Ashish S, Vijayan N, Hemanthkumar SM

Cureus 2024; (16(8)):e66233 doi:10.7759/cureus.66233.

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

Cetiner M, Finkelberg I, Schiepek F, et al.

Orphanet journal of rare diseases 2024; (19(1)):425 doi:10.1186/s13023-024-03400-w.

Adverse event profile of setmelanotide in obesity: an integrated assessment and systematic review using disproportionality analysis, case reports and meta-analysis.

Sridharan K, Sivaramakrishnan G

Expert opinion on drug safety 2026; (25(8)):1507-1516 doi:10.1080/14740338.2025.2465880.

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

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

Obesity reviews : an official journal of the International Association for the Study of Obesity 2025; (26(7)):e13915 doi:10.1111/obr.13915.

Clinical burden of hyperphagia, obesity and health outcomes in paediatric individuals with Bardet-Biedl syndrome: A CRIBBS data analysis.

Pomeroy J, Okorie U, Richardson JG, et al.

Pediatric obesity 2025; (20(9)):e70026 doi:10.1111/ijpo.70026.

Ophthalmologic Manifestations in Bardet-Biedl Syndrome: Emerging Therapeutic Approaches.

Rosado A, Rodriguez E, Izquierdo N

Medicina (Kaunas, Lithuania) 2025; (61(7)) doi:10.3390/medicina61071135.

Incidental diagnosis of Bardet-Biedl syndrome in a case of abdominal tuberculosis: a case report.

Andanappa A, Alla SSM, Malireddi A, et al.

Journal of medical case reports 2025; (19(1)):402 doi:10.1186/s13256-025-05455-0.

Under Pressure: Increased Intracranial Pressure in Infants and Children. Presented at the 2024 AOC/AACO/AAO Sunday Symposium.

Yuen T, Vyas A, Tahir S, Chang M

Journal of binocular vision and ocular motility 2025; (75(4)):95-107 doi:10.1080/2576117X.2025.2548363.

Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort.

Argente J, Haqq AM, Schorfheide JL, et al.

Obesity (Silver Spring, Md.) 2026; (34(3)):579-587 doi:10.1002/oby.70125.

Intellectual functioning in individuals with Bardet-Biedl syndrome.

Keifer E, Gabor R, Richardson JG, et al.

The Clinical neuropsychologist 2026; 1-16 doi:10.1080/13854046.2026.2648268.

Setmelanotide in Bardet-Biedl Syndrome: A Case Report.

Smith S, Sanfilippo E, Lee LW

Pediatric dermatology 2026; (43(5)):1196-1199 doi:10.1111/pde.70186.

Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria.

Pomeroy JJ, Richards J, Sweeney BR, et al.

American journal of medical genetics. Part A 2026; (200(10)):2181-2198 doi:10.1002/ajmg.a.70199.

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.

Nikolaeva AF, Boyko TV, Kadyshev VV, et al.

Genes 2026; (17(6)) doi:10.3390/genes17060614.

Assessment of Renal Changes in Bardet-Biedl Syndrome with Particular Emphasis on Kidney Size, Function, and Blood Pressure Control.

Moskal Z, Szmigielska A

Journal of mother and child 2026; (30(1)):123-128 doi:10.34763/jmotherandchild.20263001.d-26-00009.

Pediatric intracranial hypertension: A review of presenting symptoms, quality of life, and secondary causes.

Varma H, Aylward SC

Annals of the Child Neurology Society 2024; (2(1)):15-26 doi:10.1002/cns3.20057.

Bardet-Biedl Syndrome Presenting With Acute Kidney Injury Revealing Previously Undiagnosed Advanced Chronic Kidney Disease in a Young Adult: A Case Report.

Abbas A, Amjad N, Mufti AF, et al.

Clinical case reports 2026; (14(10)):e73672 doi:10.1002/ccr3.73672.

Obesity in Children Aged 2 to 12 Years: A Review.

Fox CK, Armstrong SC, Kelly AS

JAMA 2026; doi:10.1001/jama.2026.18806.