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About 1,062 results

ALLMedicine™ Bardet-Biedl Syndrome Center

Research & Reviews  531 results

The BBSome: a nexus controlling energy metabolism in the brain.
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...

Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spect...
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...

Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect s...
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...

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy pheno...
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...

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Clinicaltrials.gov  531 results

The BBSome: a nexus controlling energy metabolism in the brain.
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...

Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spect...
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...

Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect s...
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...

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy pheno...
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...

see more →