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An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 1/2, p. 98, doi. 10.1159/000491567
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- Article
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
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- Journal of Clinical Investigation, 2012, v. 122, n. 4, p. 1233, doi. 10.1172/JCI60981
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- Article
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
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- PLoS Biology, 2019, v. 17, n. 10, p. 1, doi. 10.1371/journal.pbio.3000520
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- Article
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
- Published in:
- PLoS Biology, 2019, v. 17, n. 8, p. 1, doi. 10.1371/journal.pbio.3000414
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- Publication type:
- Article
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
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- PLoS Biology, 2019, v. 17, n. 9, p. 1, doi. 10.1371/journal.pbio.3000414
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- Article
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 10, doi. 10.1002/ajmg.a.36235
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- Article
Intellectual disability, unusual facial morphology and hand anomalies in sibs.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2401, doi. 10.1002/ajmg.a.36124
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- Article
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
- Published in:
- Nature Medicine, 2012, v. 18, n. 9, p. 1423, doi. 10.1038/nm.2860
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- Publication type:
- Article
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
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- Nature Genetics, 2014, v. 46, n. 1, p. 70, doi. 10.1038/ng.2829
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- Article
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
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- Nature Genetics, 2012, v. 44, n. 4, p. 381, doi. 10.1038/ng.1106
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- Article
Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
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- 2008
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- 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.
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- Nature Genetics, 2007, v. 39, n. 11, p. 1350, doi. 10.1038/ng.2007.12
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- Article
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
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- Nature Genetics, 2007, v. 39, n. 6, p. 727, doi. 10.1038/ng2038
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- Article
Hedgehogs on the road to polarity.
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- Nature Genetics, 2006, v. 38, n. 3, p. 277, doi. 10.1038/ng0306-277
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- Publication type:
- Article
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
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- 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.
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- Nature Genetics, 2004, v. 36, n. 9, p. 989, doi. 10.1038/ng1414
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- Article
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
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- Nature Genetics, 2004, v. 36, n. 5, p. 462, doi. 10.1038/ng1352
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- Publication type:
- Article
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 67, doi. 10.1038/79201
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- Publication type:
- Article
CD19<sup>+</sup>CD24<sup>hi</sup>CD38<sup>hi</sup> B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.01372
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- Article
Loss of <i>FTO</i> Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies.
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- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0087662
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- Article
Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney.
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- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082137
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- Publication type:
- Article
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
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- Human Genetics, 2011, v. 129, n. 1, p. 79, doi. 10.1007/s00439-010-0902-8
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- Publication type:
- Article
Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval.
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- Human Genetics, 2005, v. 116, n. 1/2, p. 62, doi. 10.1007/s00439-004-1184-9
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- Article
Obesity genes.
- Published in:
- Clinical Endocrinology, 1996, v. 45, n. 4, p. 373, doi. 10.1046/j.1365-2265.1996.8260837.x
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- Article
Bardet-Biedl syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 8, doi. 10.1038/ejhg.2012.115
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- Publication type:
- Article
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 485, doi. 10.1038/ejhg.2010.207
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- Article
Practical genetics series introduction: Information overload, a double-edged sword.
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- 2006
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- Publication type:
- Editorial
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3096, doi. 10.1093/brain/awt218
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- Article
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
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- PLoS Genetics, 2023, v. 19, n. 6, p. 1, doi. 10.1371/journal.pgen.1010796
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- Article
Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents.
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- Nature Communications, 2014, v. 5, n. 11, p. 5308, doi. 10.1038/ncomms6308
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- Article
Dissection of epistasis in oligogenic Bardet–Biedl syndrome.
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- 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.
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- Nature, 2003, v. 425, n. 6958, p. 628, doi. 10.1038/nature02030
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- Publication type:
- Article
Basal body stability and ciliogenesis requires the conserved component Poc1.
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- Journal of Cell Biology, 2009, v. 187, n. 6, p. 905, doi. 10.1083/jcb.200908019
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- Article
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0066-6
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- Article
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
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- Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
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- Article
Restoration of renal function in zebrafish models of ciliopathies.
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- 2008
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- Publication type:
- Report
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082
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- Publication type:
- Article
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
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- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1410
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- Publication type:
- Article
Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
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- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5441, doi. 10.1093/hmg/ddu267
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- Publication type:
- Article
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3362
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- Publication type:
- Article
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
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- Human Molecular Genetics, 2014, v. 23, n. 10, p. 2511, doi. 10.1093/hmg/ddt643
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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.
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- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4031, doi. 10.1093/hmg/ddt253
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- Publication type:
- Article
Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
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- Human Molecular Genetics, 2013, v. 22, n. 19, p. 3858, doi. 10.1093/hmg/ddt241
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- Publication type:
- Article
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.
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- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1835, doi. 10.1093/hmg/ddr615
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- Publication type:
- Article
Renal cancer and malformations in relatives of patients with Bardet‐Biedl syndrome.
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- Nephrology Dialysis Transplantation, 2000, v. 15, n. 12, p. 1977, doi. 10.1093/ndt/15.12.1977
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- Article
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 22, p. 2662, doi. 10.3390/cells12222662
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- Publication type:
- Article
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 7, p. 1306, doi. 10.1093/hmg/ddr013
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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