Works matching DE "LAURENCE-Moon-Biedl syndrome"
Results: 410
Structural basis for membrane targeting of the BBSome by ARL6.
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- Nature Structural & Molecular Biology, 2014, v. 21, n. 12, p. 1035, doi. 10.1038/nsmb.2920
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- Article
Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.
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- Documenta Ophthalmologica, 2024, v. 149, n. 2, p. 133, doi. 10.1007/s10633-024-09985-8
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- Article
Bardet–Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.
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- 2023
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- Case Study
Novel biallelic splice-site BBS1 variants in Bardet–Biedle syndrome: a case report of the first Japanese patient.
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- Documenta Ophthalmologica, 2020, v. 141, n. 1, p. 77, doi. 10.1007/s10633-020-09752-5
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- Article
Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique (Communicated by Mireille Claustres).
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- Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241
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- Article
Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening techniqueCommunicated by Mireille Claustres.
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- Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241
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- Article
P-51 Association of Bardet-Biedl syndrome with differences of sex development and pituitary hypoplasia.
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- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.053
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- Article
In This Issue.
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- Journal of Cell Biology, 2013, v. 201, n. 2, p. 168
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- Article
Maxence Nachury: A transporting view of the primary cilium.
- Published in:
- 2010
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- Interview
The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella.
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- Journal of Cell Biology, 2009, v. 187, n. 7, p. 1117, doi. 10.1083/jcb.200909183
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- Article
BBS proteins run an export business.
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- Journal of Cell Biology, 2009, v. 187, n. 7, p. 936, doi. 10.1083/jcb.1877iti3
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- Article
Mechanism of transport of IFT particles in C. elegans cilia by the concerted action of kinesin-II and OSM-3 motors.
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- Journal of Cell Biology, 2006, v. 174, n. 7, p. 1035, doi. 10.1083/jcb.200606003
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- Article
A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4514967
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- Article
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.
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- 2023
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- Publication type:
- Case Study
CPLANE Complex and Ciliopathies.
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- Biomolecules (2218-273X), 2022, v. 12, n. 6, p. 847, doi. 10.3390/biom12060847
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- Article
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.
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- 2019
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- Publication type:
- Case Study
Effect of setmelanotide, a melanocortin-4 receptor agonist, on obesity in Bardet-Biedl syndrome.
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- Diabetes, Obesity & Metabolism, 2020, v. 22, n. 11, p. 2133, doi. 10.1111/dom.14133
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- Article
Bardet-Biedl Syndrome: An Atypical Phenotype in Brothers with a Proven BBS1 Mutation.
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- Ophthalmic Genetics, 2008, v. 29, n. 3, p. 128, doi. 10.1080/13816810802216464
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- Article
Asymptomatic Renal Cell Carcinoma as a Finding of Bardet Biedl Syndrome.
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- Ophthalmic Genetics, 2008, v. 29, n. 1, p. 33, doi. 10.1080/13816810701762642
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- Article
Bardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos?
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- Ophthalmic Genetics, 2007, v. 28, n. 2, p. 95, doi. 10.1080/13816810701209545
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- Article
The major gene for Bardet-Biedl syndrome is BBS.
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- Ophthalmic Genetics, 2003, v. 24, n. 2, p. 127, doi. 10.1076/opge.24.2.127.13999
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- Article
Bardet-Biedl syndrome: a review of Chinese literature and a reportof two cases.
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- Ophthalmic Genetics, 1998, v. 19, n. 2, p. 107, doi. 10.1076/opge.19.2.107.2315
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- Article
Diseases of the primary cilia: a clinical characteristics review.
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- Pediatric Nephrology, 2025, v. 40, n. 3, p. 611, doi. 10.1007/s00467-024-06528-w
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- Article
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
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- Pediatric Nephrology, 2023, v. 38, n. 2, p. 605, doi. 10.1007/s00467-022-05616-z
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- Article
Renal transplantation in Bardet-Biedl Syndrome.
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- Pediatric Nephrology, 2016, v. 31, n. 11, p. 2153, doi. 10.1007/s00467-016-3415-4
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- Article
Obesity in patients with Bardet-Biedl syndrome: influence of appetite-regulating hormones.
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- Pediatric Nephrology, 2012, v. 27, n. 11, p. 2065, doi. 10.1007/s00467-012-2220-y
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- Article
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.
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- Pediatric Nephrology, 2012, v. 27, n. 1, p. 7, doi. 10.1007/s00467-010-1751-3
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- Article
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.
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- Pediatric Nephrology, 2011, v. 26, n. 8, p. 1181, doi. 10.1007/s00467-010-1697-5
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- Article
Ciliopathies: an expanding disease spectrum.
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- Pediatric Nephrology, 2011, v. 26, n. 7, p. 1039, doi. 10.1007/s00467-010-1731-7
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- Article
Bardet–Biedl syndrome: beyond the cilium.
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- Pediatric Nephrology, 2007, v. 22, n. 7, p. 926, doi. 10.1007/s00467-007-0435-0
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- Article
Acute poststreptococcal glomerulonephritis in a child with Bardet-Biedl syndrome.
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- Pediatric Nephrology, 2002, v. 17, n. 1, p. 70, doi. 10.1007/s004670200012
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- Article
Experiences in Physical Education with Bardet-Biedl Syndrome: An Interpretative Phenomenological Analysis Case Study.
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- Journal of Blindness Innovation & Research, 2020, v. 10, n. 2, p. N.PAG, doi. 10.5241/10-185
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- Article
The Clinical and Mutational Spectrum of Bardet–Biedl Syndrome in Saudi Arabia.
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- Genes, 2024, v. 15, n. 6, p. 762, doi. 10.3390/genes15060762
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- Article
Syndromic Retinitis Pigmentosa: A 15-Patient Study.
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- Genes, 2024, v. 15, n. 4, p. 516, doi. 10.3390/genes15040516
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- Article
Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alström and Bardet–Biedl Syndromes.
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- Genes, 2023, v. 14, n. 9, p. 1784, doi. 10.3390/genes14091784
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- Article
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome.
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- Genes, 2023, v. 14, n. 5, p. 1113, doi. 10.3390/genes14051113
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- Article
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
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- Genes, 2023, v. 14, n. 2, p. 404, doi. 10.3390/genes14020404
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- Article
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2 , BBS7, and EVC2 Mutations.
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- Genes, 2023, v. 14, n. 1, p. 84, doi. 10.3390/genes14010084
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- Article
Proteomic and Transcriptomic Landscapes of Alström and Bardet–Biedl Syndromes.
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- Genes, 2022, v. 13, n. 12, p. 2370, doi. 10.3390/genes13122370
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- Article
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog.
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- Genes, 2021, v. 12, n. 11, p. 1771, doi. 10.3390/genes12111771
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- Article
Bardet–Biedl Syndrome—Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype–Phenotype Correlations.
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- Genes, 2021, v. 12, n. 9, p. 1353, doi. 10.3390/genes12091353
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- Article
Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance.
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- Genes, 2020, v. 11, n. 11, p. 1283, doi. 10.3390/genes11111283
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- Article
Deletion in the Bardet–Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs.
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- Genes, 2020, v. 11, n. 9, p. 1090, doi. 10.3390/genes11091090
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- Article
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes.
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- Genes, 2019, v. 10, n. 12, p. 1047, doi. 10.3390/genes10121047
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- Article
Bilateral spontaneous quadriceps tendon ruptures in a patient with Bardet-Biedl syndrome.
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- 2004
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- Publication type:
- commentary
Partial Atrioventricular Septal Defect in a Case of Bardet-Biedl Syndrome: A Rare Association.
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- Acta Medica Iranica, 2023, v. 61, n. 11, p. 706
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- Article
Novel genotyping assay for a 212-kb deletion from the BBS9 gene, and frequency of the allele in pig populations in Vietnam.
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- Journal of Veterinary Diagnostic Investigation, 2024, v. 36, n. 6, p. 847, doi. 10.1177/10406387241282082
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- Article
The Case | Hexadactyly, blindness, obesity, and end-stage renal disease.
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- Kidney International, 2013, v. 84, n. 6, p. 1291, doi. 10.1038/ki.2013.180
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- Article
Disruption of Dopamine Receptor 1 Localization to Primary Cilia Impairs Signaling in Striatal Neurons.
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- Journal of Neuroscience, 2022, v. 42, n. 35, p. 6692, doi. 10.1523/JNEUROSCI.0497-22.2022
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- Article
The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 3, p. 957, doi. 10.3390/ijms26030957
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- Article