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Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
- Published in:
- 2008
- By:
- Publication type:
- Correction Notice
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2008, v. 40, n. 4, p. 443, doi. 10.1038/ng.97
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- Publication type:
- Article
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.
- Published in:
- Nature Genetics, 2007, v. 39, n. 11, p. 1350, doi. 10.1038/ng.2007.12
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- Publication type:
- Article
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 521, doi. 10.1038/ng1771
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- Publication type:
- Article
A manually curated functional annotation of the human X chromosome.
- Published in:
- 2005
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- Publication type:
- Letter
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
- Published in:
- Nature Genetics, 2004, v. 36, n. 9, p. 994, doi. 10.1038/ng1418
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- Publication type:
- Article
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 9, p. 989, doi. 10.1038/ng1414
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- Publication type:
- Article
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
- Published in:
- Nature Genetics, 2004, v. 36, n. 5, p. 462, doi. 10.1038/ng1352
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- Publication type:
- Article
The centrosome in human genetic disease.
- Published in:
- Nature Reviews Genetics, 2005, v. 6, n. 3, p. 194, doi. 10.1038/nrg1557
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- Publication type:
- Article
Beyond Mendel: an evolving view of human genetic disease transmission.
- Published in:
- 2002
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- Publication type:
- journal article
Human genetics and disease: Beyond mendel: an evolving view of human genetic disease transmission.
- Published in:
- Nature Reviews Genetics, 2002, v. 3, n. 10, p. 779, doi. 10.1038/nrg910
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- Publication type:
- Article
Impact of Bariatric Surgery on metabolic health in a Uruguayan cohort and the emerging predictive role of FSTL1.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65651-8
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- Publication type:
- Article
Author Correction: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.
- Published in:
- 2020
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- Publication type:
- Correction Notice
A novel form of Deleted in breast cancer 1 (DBC1) lacking the N-terminal domain does not bind SIRT1 and is dynamically regulated in vivo.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50789-7
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- Publication type:
- Article
Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49217-7
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- Publication type:
- Article
Dissection of epistasis in oligogenic Bardet–Biedl syndrome.
- Published in:
- Nature, 2006, v. 439, n. 7074, p. 326, doi. 10.1038/nature04370
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- Publication type:
- Article
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
- Published in:
- Nature, 2003, v. 425, n. 6958, p. 628, doi. 10.1038/nature02030
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- Publication type:
- Article
The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4031, doi. 10.1093/hmg/ddt253
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- Publication type:
- Article
Ciliary Entry of the Hedgehog Transcriptional Activator Gli2 Is Mediated by the Nuclear Import Machinery but Differs from Nuclear Transport in Being Imp-α/β1-Independent.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0162033
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- Publication type:
- Article
Bardet–Biedl syndrome: Is it only cilia dysfunction?
- Published in:
- FEBS Letters, 2015, v. 589, n. 22, p. 3479, doi. 10.1016/j.febslet.2015.07.031
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- Publication type:
- Article
The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 173, doi. 10.1093/hmg/ddl459
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- Publication type:
- Article
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 14, p. 1651, doi. 10.1093/hmg/ddg188
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- Publication type:
- Article
Characterization of primary cilia during the differentiation of retinal ganglion cells in the zebrafish.
- Published in:
- Neural Development, 2016, v. 11, p. 1, doi. 10.1186/s13064-016-0064-z
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- Publication type:
- Article
Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules.
- Published in:
- BMC Molecular Biology, 2014, v. 15, p. 1
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- Publication type:
- Article
Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 6, p. 1, doi. 10.1371/journal.pgen.1009896
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- Publication type:
- Article