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About 1,058 results

ALLMedicine™ Bardet-Biedl Syndrome Center

Research & Reviews  529 results

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...

A missense mutation in IFT74, encoding for an essential component for intraflagellar tr...
https://doi.org/10.1007/s00439-021-02270-7 10.1093/humrep/dev251 10.1016/j.cub.2015.11.001 10.1126/science.1240985 10.1021/acs.jproteome.6b00972 10.1016/j.cub.2015.04.060 10.1093/humupd/dmp048 10.1038/s41467-017-02792-7 10.1093/hmg/ddp029 10.1016/j.ajhg.2018.03.007 10.1038/srep34232 10.1136/jmedgenet-2018-105486 10.1101/cshperspect.a028076 10.1101/cshperspect.a021998 10.1111/cge.12737 10.1038/s41431-020-0594-z 10.1210/clinem/dgaa551 10.1242/jcs.187120 10.1016/j.ajhg.2015.04.023 10.1093/biolre/iox029 10.1136/jmedgenet-2019-106011 10.1016/j.ajhg.2019.02.020 10.1136/jmedgenet-2018-105952 10.1016/j.ajhg.2020.06.004 10.1093/hmg/ddy034 10.1016/j.ajhg.2019.10.007 10.1186/s13059-016-0974-4 10.1002/humu.23862 10.1083/jcb.151.3.709 10.1016/S0070-2153(08)00802-8 10.4103/0301-4738.194328 10.1152/ajpcell.00450.2019 10.1038/nrm.2017.60 10.1038/nrm952 10.1091/mbc.E15-08-0578 10.1093/biolre/ioz071 10.1095/biolreprod.111.091132 10.1007/s00439-020-02113-x 10.1007/978-3-319-95046-4_33 10.1042/BC20100104 10.1016/j.jprot.2012.12.008 10.1091/mbc.E16-05-0318 10.1016/j.ydbio.2017.09.023 10.1002/cm.21427
Human Genetics; Lorès P, Kherraf ZE et. al.

Mar 10th, 2021 - Cilia and flagella are formed around an evolutionary conserved microtubule-based axoneme and are required for fluid and mucus clearance, tissue homeostasis, cell differentiation and movement. The formation and maintenance of cilia and flagella req...

see more →

Clinicaltrials.gov  529 results

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...

A missense mutation in IFT74, encoding for an essential component for intraflagellar tr...
https://doi.org/10.1007/s00439-021-02270-7 10.1093/humrep/dev251 10.1016/j.cub.2015.11.001 10.1126/science.1240985 10.1021/acs.jproteome.6b00972 10.1016/j.cub.2015.04.060 10.1093/humupd/dmp048 10.1038/s41467-017-02792-7 10.1093/hmg/ddp029 10.1016/j.ajhg.2018.03.007 10.1038/srep34232 10.1136/jmedgenet-2018-105486 10.1101/cshperspect.a028076 10.1101/cshperspect.a021998 10.1111/cge.12737 10.1038/s41431-020-0594-z 10.1210/clinem/dgaa551 10.1242/jcs.187120 10.1016/j.ajhg.2015.04.023 10.1093/biolre/iox029 10.1136/jmedgenet-2019-106011 10.1016/j.ajhg.2019.02.020 10.1136/jmedgenet-2018-105952 10.1016/j.ajhg.2020.06.004 10.1093/hmg/ddy034 10.1016/j.ajhg.2019.10.007 10.1186/s13059-016-0974-4 10.1002/humu.23862 10.1083/jcb.151.3.709 10.1016/S0070-2153(08)00802-8 10.4103/0301-4738.194328 10.1152/ajpcell.00450.2019 10.1038/nrm.2017.60 10.1038/nrm952 10.1091/mbc.E15-08-0578 10.1093/biolre/ioz071 10.1095/biolreprod.111.091132 10.1007/s00439-020-02113-x 10.1007/978-3-319-95046-4_33 10.1042/BC20100104 10.1016/j.jprot.2012.12.008 10.1091/mbc.E16-05-0318 10.1016/j.ydbio.2017.09.023 10.1002/cm.21427
Human Genetics; Lorès P, Kherraf ZE et. al.

Mar 10th, 2021 - Cilia and flagella are formed around an evolutionary conserved microtubule-based axoneme and are required for fluid and mucus clearance, tissue homeostasis, cell differentiation and movement. The formation and maintenance of cilia and flagella req...

see more →