ALLMedicine™ Bardet-Biedl Syndrome Center
Research & Reviews 531 results
https://doi.org/10.1172/JCI148903
The Journal of Clinical Investigation; Blaess S, Wachten D
Apr 15th, 2021 - Bardet-Biedl syndrome (BBS) is a syndromic ciliopathy that has obesity as a cardinal feature. BBS is caused by mutations in BBS genes. BBS proteins control primary cilia function, and BBS mutations therefore lead to dysfunctional primary cilia. Ob...
https://doi.org/10.1038/s41390-021-01476-9 10.1007/s00467-010-1629-4 10.1038/s41588-018-0281-y 10.1093/ndt/gfn777 10.1016/j.jpurol.2014.03.004 10.1016/0037-198X(75)90035-8 10.1007/s00383-006-1755-z 10.1681/ASN.2005030239 10.1038/ki.2013.508 10.1016/j.ajhg.2012.10.007 10.2215/CJN.01640309 10.1038/s41436-019-0686-8 10.2215/CJN.03320410 10.1086/498323 10.1152/ajprenal.00150.2010 10.1002/ajmg.a.20097 10.1038/jhg.2015.116 10.1172/JCI8256 10.1242/dev.02861 10.1046/j.1523-1755.2003.00834.x 10.1681/ASN.2006111282 10.1186/s13059-014-0572-2 10.1111/jcmm.12952 10.1038/nature14475
Pediatric Research; Chen TJ, Song R et. al.
Apr 1st, 2021 - Multicystic dysplastic kidney (MCDK) is a common form of congenital kidney anomaly. The cause of MCDK is unknown. We investigated whether MCDK in children is linked to cytogenomic aberrations. We conducted array comparative genomic hybridization (...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7995718
BMC Medical Genomics; Suárez-González J, Seidel V et. al.
Mar 27th, 2021 - Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on a novel pathogenic variant in a consan...
https://doi.org/10.1111/cge.13962
Clinical Genetics; Mardy AH, Hodoglugil U et. al.
Mar 22nd, 2021 - Bardet-Biedl syndrome (BBS) is a rare ciliopathy characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity and renal anomalies with autosomal recessive inheritance. We describe a 6-year-old male with early onset retinal dystrophy...
https://doi.org/10.1080/13816810.2021.1888132
Ophthalmic Genetics; Aleman TS, O'Neil EC et. al.
Mar 17th, 2021 - Purpose: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 geneMethods: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations ove...
Clinicaltrials.gov 531 results
https://doi.org/10.1172/JCI148903
The Journal of Clinical Investigation; Blaess S, Wachten D
Apr 15th, 2021 - Bardet-Biedl syndrome (BBS) is a syndromic ciliopathy that has obesity as a cardinal feature. BBS is caused by mutations in BBS genes. BBS proteins control primary cilia function, and BBS mutations therefore lead to dysfunctional primary cilia. Ob...
https://doi.org/10.1038/s41390-021-01476-9 10.1007/s00467-010-1629-4 10.1038/s41588-018-0281-y 10.1093/ndt/gfn777 10.1016/j.jpurol.2014.03.004 10.1016/0037-198X(75)90035-8 10.1007/s00383-006-1755-z 10.1681/ASN.2005030239 10.1038/ki.2013.508 10.1016/j.ajhg.2012.10.007 10.2215/CJN.01640309 10.1038/s41436-019-0686-8 10.2215/CJN.03320410 10.1086/498323 10.1152/ajprenal.00150.2010 10.1002/ajmg.a.20097 10.1038/jhg.2015.116 10.1172/JCI8256 10.1242/dev.02861 10.1046/j.1523-1755.2003.00834.x 10.1681/ASN.2006111282 10.1186/s13059-014-0572-2 10.1111/jcmm.12952 10.1038/nature14475
Pediatric Research; Chen TJ, Song R et. al.
Apr 1st, 2021 - Multicystic dysplastic kidney (MCDK) is a common form of congenital kidney anomaly. The cause of MCDK is unknown. We investigated whether MCDK in children is linked to cytogenomic aberrations. We conducted array comparative genomic hybridization (...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7995718
BMC Medical Genomics; Suárez-González J, Seidel V et. al.
Mar 27th, 2021 - Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on a novel pathogenic variant in a consan...
https://doi.org/10.1111/cge.13962
Clinical Genetics; Mardy AH, Hodoglugil U et. al.
Mar 22nd, 2021 - Bardet-Biedl syndrome (BBS) is a rare ciliopathy characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity and renal anomalies with autosomal recessive inheritance. We describe a 6-year-old male with early onset retinal dystrophy...
https://doi.org/10.1080/13816810.2021.1888132
Ophthalmic Genetics; Aleman TS, O'Neil EC et. al.
Mar 17th, 2021 - Purpose: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the BBS7 geneMethods: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations ove...
