About 525 results

ALLMedicine™ Bardet-biedl Syndrome Center

Research & Reviews  206 results

Novel homozygous protein-truncating mutation of BBS9 identified in a Chinese consanguin...
Molecular Genetics & Genomic Medicine; Tang HY, Xie F et. al.

Jul 2nd, 2021 - Bardet-Biedl syndrome (BBS) is a rare and genetically heterogeneous disease with a broad spectrum of clinical features, including but not limited to rod-cone dystrophy, postaxial polydactyly, central obesity, intellectual disability, hypogonadism,...

Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome.
Orphanet Journal of Rare Diseases; Pomeroy J, VanWormer JJ et. al.

Jun 15th, 2021 - Overweight and obesity are common features of the rare disease Bardet-Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in the health and well-being of people with...

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and...
https://doi.org/10.1007/s40620-021-01048-4 10.1038/nrg3031 10.1007/s00439-011-0964-2 10.1038/nrg3555 10.1038/s41436-020-00963-4 10.1016/S0140-6736(10)60236-X 10.1681/ASN.2008050507 10.1007/s00467-018-3985-4 10.1038/sj.ki.5002220 10.1002/humu.22103 10.1186/1471-2369-12-57 10.1046/j.1523-1755.2002.00326.x 10.1136/jmg.39.6.422 10.1086/316939 10.1002/ajmg.a.33650 10.1086/341031 10.1136/jmg.2009.073205 10.1002/1096-8628(20010115)98:2<148::AID-AJMG1024>3.0.CO;2-W 10.3324/haematol.2018.204990 10.1002/humu.9045 10.1681/ASN.2006101095 10.1681/ASN.2016101057 10.2215/CJN.10981114 10.7326/0003-4819-150-9-200905050-00006 10.1186/s40478-014-0100-3 10.1186/1471-2164-15-S3-S5 10.1038/ng.806 10.1093/nar/gkq603 10.1093/nar/gkn721 10.1093/nar/29.1.308 10.1038/nature09534 10.1016/j.jmoldx.2012.02.007 10.1681/ASN2012070650 10.1681/ASN.2015050583 10.1161/CIRCGENETICS.117.001768 10.1038/s41436-020-0816-3 10.1038/ng0695-151 10.1093/ndt/gfz121 10.1038/nature03187 10.1002/humu.20842 10.1016/j.ymgme.2007.05.004 10.1038/ki.2008.485 10.1038/nrneph.2010.18 10.1186/s12881-017-0372-0 10.1152/ajprenal.00224.2016 10.3390/ijms18040796 10.1093/ndt/gfm886
Journal of Nephrology; Zacchia M, Blanco FDV et. al.

May 8th, 2021 - Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients' diagnosis, prognosis, surveillance and therapy. The present study applied a Next Generation Sequencing (NGS)-based pane...

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Journal of Medical Genetics; Fadaie Z, Whelan L et. al.

Apr 29th, 2021 - Inherited retinal diseases (IRDs) can be caused by variants in >270 genes. The Bardet-Biedl syndrome 1 (BBS1) gene is one of these genes and may be associated with syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). Here, we...

A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by li...
PLoS Genetics; Pak TK, Carter CS et. al.

Apr 22nd, 2021 - Primary cilia are microtubule-based organelles present on most cells that regulate many physiological processes, ranging from maintaining energy homeostasis to renal function. However, the role of these structures in the regulation of behavior rem...

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Clinicaltrials.gov  3 results

Genetics and Clinical Characteristics of Bardet-Biedl Syndrome

Dec 3rd, 2019 - Although the Bardet-Biedl syndrome (BBS: severe obesity, polydactyly, learning disabilities, retinopathy, renal disease and cardiac malformations) was described more than 80 years ago, it is only over the past few years that extensive data on the ...

Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity

Oct 31st, 2018 - The purpose of the study is to determine the effect of setmelanotide (RM-493) on weight, hunger assessments and other factors in patients with rare genetic disorders of obesity, including POMC deficiency, LepR deficiency, Bardet-Biedl syndrome and...

Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults

Aug 7th, 2008 - This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure). The clinical, biological, ...

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News  1 results

A Retinal Disease With Systemic Associations

Jun 9th, 2004 - Clinical Presentation A 17-year-old male presented to our office with a history of difficulty seeing, particularly in the dark, for several years. His vision had gradually worsened since onset. He had been prescribed glasses by his optometrist, bu...

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