Works matching DE "LAURENCE-Moon-Biedl syndrome"
Results: 413
Low fluid shear stress promoted ciliogenesis via Dvl2 in hUVECs.
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- Histochemistry & Cell Biology, 2020, v. 154, n. 6, p. 639, doi. 10.1007/s00418-020-01908-3
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- Article
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
- Published in:
- 2021
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- Publication type:
- Correction Notice
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1031, doi. 10.1007/s00439-021-02270-7
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- Publication type:
- Article
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
- Published in:
- Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2
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- Article
RENAL DYSPLASIA IN BARDET-BIEDL SYNDROME.
- Published in:
- 2015
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- Publication type:
- Case Study
Supporting a Tsonga learner living with Bardet-Biedl syndrome, a rare complex disability.
- Published in:
- 2023
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- Publication type:
- Case Study
A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4514967
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- Publication type:
- Article
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.
- Published in:
- 2023
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- Publication type:
- Case Study
CPLANE Complex and Ciliopathies.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 6, p. 847, doi. 10.3390/biom12060847
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- Publication type:
- Article
EP18.45: Prenatal diagnosis, phenotype expansion and genetic analysis of Joubert syndrome with new MKS1 mutation.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 293, doi. 10.1002/uog.28780
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- Article
EP06.19: Prenatal diagnosis of Bardet‐Biedl Syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 152, doi. 10.1002/uog.28192
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- Publication type:
- Article
Fetal ascites in third trimester as an unreported prenatal finding of Bardet-Biedl syndrome and successful subsequent unaffected livebirth assisted by preimplantation genetic diagnosis.
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- Ultrasound in Obstetrics & Gynecology, 2023, v. 61, n. 5, p. 649, doi. 10.1002/uog.26114
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- Publication type:
- Article
P05.03: Antenatal sonographic and genetic diagnosis of two cases of Bardet‐Biedl syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 168, doi. 10.1002/uog.20915
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- Publication type:
- Article
Characterization of Bardet-Biedl syndrome by postmortem microfocus computed tomography (micro-CT).
- Published in:
- 2019
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- Publication type:
- Case Study
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1419025
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- Publication type:
- Article
Two novel variants in a Bardet‐Biedl syndrome type 5 patient with severe renal phenotype.
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- Nephrology, 2022, v. 27, n. 11, p. 897, doi. 10.1111/nep.14087
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- Publication type:
- Article
Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet–Biedl Syndrome.
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- Nature & Science of Sleep, 2021, v. 13, p. 1913, doi. 10.2147/NSS.S320660
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- Publication type:
- Article
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple.
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- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/159143
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- Publication type:
- Article
Bardet--Biedl syndrome: Case report from a tertiary-care hospital in Srinagar, India.
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- Our Dermatology Online / Nasza Dermatologia Online, 2023, v. 14, n. 1, p. 88, doi. 10.7241/ourd.20231.19
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- Publication type:
- Article
Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome.
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- Kidney & Blood Pressure Research, 2018, v. 42, n. 5, p. 784, doi. 10.1159/000484301
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- Publication type:
- Article
Association of circulating miRNAS in patients with Alstrőm and Bardet-Biedl syndromes with clinical course parameters.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1057056
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- Publication type:
- Article
Primary Cilia in Pancreatic β- and α-Cells: Time to Revisit the Role of Insulin-Degrading Enzyme.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.922825
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- Publication type:
- Article
KNOCKING DOWN THE DIAGNOSIS IN KNOCK KNEES.
- Published in:
- 2021
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- Publication type:
- Case Study
Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish.
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- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0213960
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- Publication type:
- Article
Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins.
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- Cellular & Molecular Life Sciences, 2011, v. 68, n. 17, p. 2951, doi. 10.1007/s00018-010-0603-4
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- Publication type:
- Article
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.
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- Cellular & Molecular Life Sciences, 2006, v. 63, n. 18, p. 2145, doi. 10.1007/s00018-006-6180-x
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- Publication type:
- Article
Microtubule transport defects in neurological and ciliary disease.
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- Cellular & Molecular Life Sciences, 2005, v. 62, n. 14, p. 1556, doi. 10.1007/s00018-005-5007-5
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- Publication type:
- Article
Tissue‐dependent differences in Bardet–Biedl syndrome gene expression.
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- Biology of the Cell (Wiley-Blackwell), 2020, v. 112, n. 2, p. 39, doi. 10.1111/boc.201900077
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- Publication type:
- Article
Ulk4 Is Essential for Ciliogenesis and CSF Flow.
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- Journal of Neuroscience, 2016, v. 36, n. 29, p. 7589, doi. 10.1523/JNEUROSCI.0621-16.2016
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- Publication type:
- Article
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.
- Published in:
- 2017
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- Publication type:
- journal article
Bardet-Biedl Syndrome-A Rare Cause of Cardiomyopathy.
- Published in:
- 2013
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- Publication type:
- Case Study
Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.
- Published in:
- Molecular Biology Reports, 2023, v. 50, n. 12, p. 9963, doi. 10.1007/s11033-023-08816-4
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- Publication type:
- Article
Identifying Candidate Disease Genes with High-Performance Computing.
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- Journal of Supercomputing, 2003, v. 26, n. 1, p. 7, doi. 10.1023/A:1024417200364
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- Publication type:
- Article
Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm.
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- Archives of Gynecology & Obstetrics, 2023, v. 308, n. 4, p. 1287, doi. 10.1007/s00404-022-06814-8
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- Publication type:
- Article
Genetics: Gene plus gene.
- Published in:
- Nature, 2010, v. 466, n. 7302, p. 10, doi. 10.1038/466010f
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- Article
Genetic analysis diagnosed Bardet–Biedl syndrome in a patient with a clinical diagnosis of Senior–Løken syndrome.
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- Renal Replacement Therapy, 2020, v. 6, n. 1, p. N.PAG, doi. 10.1186/s41100-020-00294-9
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- Publication type:
- Article
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.
- Published in:
- Human Genetics, 2013, v. 132, n. 1, p. 91, doi. 10.1007/s00439-012-1228-5
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- Publication type:
- Article
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
- Published in:
- Human Genetics, 2011, v. 129, n. 1, p. 79, doi. 10.1007/s00439-010-0902-8
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- Publication type:
- Article
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
- Published in:
- Human Genetics, 2010, v. 127, n. 5, p. 583, doi. 10.1007/s00439-010-0804-9
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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
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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- Publication type:
- Article
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
- Published in:
- Human Genetics, 2002, v. 110, n. 6, p. 561, doi. 10.1007/s00439-002-0733-3
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- Publication type:
- Article
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00311-2
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- Publication type:
- Article
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.
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- Journal of Clinical Medicine, 2022, v. 11, n. 24, p. 7531, doi. 10.3390/jcm11247531
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- Publication type:
- Article
Ubiquitin chains earmark GPCRs for BBSome-mediated removal from cilia.
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- Journal of Cell Biology, 2020, v. 219, n. 12, p. 1, doi. 10.1083/jcb.202003020
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- Article
In This Issue.
- Published in:
- Journal of Cell Biology, 2013, v. 201, n. 2, p. 168
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- Publication type:
- Article
A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report.
- Published in:
- Biomedical Reports, 2021, v. 15, n. 6, p. N.PAG, doi. 10.3892/br.2021.1479
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- Publication type:
- Article
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1869
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- Publication type:
- Article
Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1731
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- Publication type:
- Article