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Polygenic risk score portability for common diseases across genetically diverse populations.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00664-y
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- Publication type:
- Article
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
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- Human Genetics, 2006, v. 120, n. 2, p. 211, doi. 10.1007/s00439-006-0197-y
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- Publication type:
- Article
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 66, doi. 10.1007/s004390051011
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- Publication type:
- Article
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 8, p. 1181, doi. 10.1007/s00467-010-1697-5
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- Publication type:
- Article
Endoglin interacts with VEGFR2 to promote angiogenesis.
- Published in:
- FASEB Journal, 2018, v. 32, n. 6, p. 2934, doi. 10.1096/fj.201700867RR
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- Publication type:
- Article
Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development.
- Published in:
- FASEB Journal, 2014, v. 28, n. 3, p. 1248, doi. 10.1096/fj.13-239178
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- Publication type:
- Article
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00406-y
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- Publication type:
- Article
Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup’ik Eskimo Populations.
- Published in:
- Human Heredity, 2009, v. 67, n. 3, p. 193, doi. 10.1159/000181158
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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
Molecular genetic testing and the future of clinical genomics.
- Published in:
- Nature Reviews Genetics, 2013, v. 14, n. 6, p. 415, doi. 10.1038/nrg3493
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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
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
Thermosensory and mechanosensory perception in human genetic disease.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. R2, p. R146, doi. 10.1093/hmg/ddp412
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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
Small molecule intervention in microtubule-associated human disease.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 2, p. r291, doi. 10.1093/hmg/ddi269
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- Publication type:
- Article
Small molecule intervention in microtubule-associated human disease.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. suppl_2, p. R291, doi. 10.1093/hmg/ddi269
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- Publication type:
- Article
The oligogenic properties of Bardet–Biedl syndrome.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. suppl_1, p. R65
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- Publication type:
- Article
Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects.
- Published in:
- Science Signaling, 2017, v. 10, n. 500, p. 1, doi. 10.1126/scisignal.aal4055
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- Publication type:
- Article
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
- Published in:
- Brain: A Journal of Neurology, 2017, v. 140, n. 5, p. 1267, doi. 10.1093/brain/awx040
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- Publication type:
- Article
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
- Published in:
- 2017
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- Publication type:
- journal article
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
- Published in:
- Nature, 2012, v. 485, n. 7398, p. 363, doi. 10.1038/nature11091
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- Publication type:
- Article
Neuroscience: Imprinting in the brain.
- Published in:
- Nature, 2011, v. 475, n. 7356, p. 299, doi. 10.1038/475299a
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- Publication type:
- Article
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex.
- Published in:
- Nature, 2011, v. 473, n. 7345, p. 92, doi. 10.1038/nature09859
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- Publication type:
- Article
Journal club.
- Published in:
- 2008
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- Publication type:
- Letter
A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans.
- Published in:
- Genetics, 2014, v. 198, n. 2, p. 723, doi. 10.1534/genetics.114.168211
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- Publication type:
- Article
Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio.
- Published in:
- G3: Genes | Genomes | Genetics, 2018, v. 8, n. 7, p. 2215, doi. 10.1534/g3.118.200144
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- Publication type:
- Article
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 485, doi. 10.1038/ejhg.2010.207
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- Publication type:
- Article
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1366, doi. 10.1038/ng.2741
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- Publication type:
- Article
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103
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- Publication type:
- Article
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
- Published in:
- Nature Genetics, 2011, v. 43, n. 12, p. 1232, doi. 10.1038/ng.976
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- Publication type:
- Article
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 776, doi. 10.1038/ng.891
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- Publication type:
- Article
Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
- Published in:
- 2008
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- 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
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia.
- Published in:
- 2006
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- Publication type:
- Letter
Ciliary proteins and exencephaly.
- Published in:
- Nature Genetics, 2006, v. 38, n. 2, p. 135, doi. 10.1038/ng0206-135
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- Publication type:
- Article
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 275, doi. 10.1038/ng1511
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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
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
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
Correction: In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.
- Published in:
- 2015
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- Publication type:
- Correction Notice
Transient laminin beta 1a Induction Defines the Wound Epidermis during Zebrafish Fin Regeneration.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 8, p. 1, doi. 10.1371/journal.pgen.1005437
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- Publication type:
- Article
In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 7, p. 1, doi. 10.1371/journal.pgen.1005349
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- Publication type:
- Article
Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004372
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- Publication type:
- Article
Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003384
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- Publication type:
- Article
An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 3, p. 1, doi. 10.1371/journal.pgen.1000044
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- Publication type:
- Article
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture.
- Published in:
- PLoS Genetics, 2007, v. 3, n. 7, p. e119, doi. 10.1371/journal.pgen.0030119
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- Publication type:
- Article