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Tumor microenvironment‐dependent epigenetic imprinting in the vasculature predicts colon cancer outcome.
- Published in:
- Cancer Communications, 2023, v. 43, n. 11, p. 1280, doi. 10.1002/cac2.12489
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- Article
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
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- Scientific Reports, 2015, p. 11649, doi. 10.1038/srep11649
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- Article
Experimental Epileptogenesis in a Cell Culture Model of Primary Neurons from Rat Brain: A Temporal Multi-Scale Study.
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- Cells (2073-4409), 2021, v. 10, n. 11, p. 3004, doi. 10.3390/cells10113004
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- Article
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
- Published in:
- 2019
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- Publication type:
- journal article
The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.
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- Neurogenetics, 2018, v. 19, n. 4, p. 215, doi. 10.1007/s10048-018-0555-7
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- Article
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
- Published in:
- 2017
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- Publication type:
- journal article
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35506-0
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- Article
Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants.
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- Rheumatology, 2019, v. 58, n. 5, p. 915, doi. 10.1093/rheumatology/key448
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- Article
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.
- Published in:
- Nature Communications, 2017, v. 8, n. 5, p. 15466, doi. 10.1038/ncomms15466
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- Article
Corrigendum: Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis.
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- Nature Communications, 2015, v. 6, n. 7, p. 7741, doi. 10.1038/ncomms8741
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- Article
Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis.
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- Nature Communications, 2015, v. 6, n. 2, p. 6046, doi. 10.1038/ncomms7046
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- Article
Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.
- Published in:
- BMC Medical Genetics, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s12881-017-0447-y
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- Article
GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 472, doi. 10.1186/1471-2105-11-472
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- Article
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
- Published in:
- 2019
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- Publication type:
- journal article
Choline transporter-like1 ( CHER1) is crucial for plasmodesmata maturation in Arabidopsis thaliana.
- Published in:
- Plant Journal, 2017, v. 89, n. 2, p. 394, doi. 10.1111/tpj.13393
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- Article
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1161, doi. 10.1038/ejhg.2011.98
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- Publication type:
- Article
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 186, doi. 10.1038/ejhg.2010.144
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- Article
Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 689, doi. 10.1038/ng0615-689c
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- Article
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
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- Nature Genetics, 2010, v. 42, n. 11, p. 996, doi. 10.1038/ng.688
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- Article
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
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- 2018
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- Publication type:
- journal article
Rare Copy Number Variants Are a Common Cause of Short Stature.
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- PLoS Genetics, 2013, v. 9, n. 3, p. 1, doi. 10.1371/journal.pgen.1003365
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- Article
Severe manifestation of Rauch‐Azzarello syndrome associated with biallelic deletion of CTNND2.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 180, doi. 10.1111/cge.14532
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- Article
Clinical and molecular delineation of spondylocostal dysostosis type 3.
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- Clinical Genetics, 2021, v. 99, n. 6, p. 851, doi. 10.1111/cge.13952
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- Article
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
- Published in:
- Kidney International, 2014, v. 86, n. 3, p. 589, doi. 10.1038/ki.2014.72
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- Article
Interspecies Single‐Cell RNA‐Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic Targets.
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- JBMR Plus, 2022, v. 6, n. 7, p. 1, doi. 10.1002/jbm4.10631
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- Article
Integrative bioinformatics analysis characterizing the role of <italic>EDC3</italic> in mRNA decay and its association to intellectual disability.
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- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0358-6
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- Article
High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder.
- Published in:
- BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0299-5
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- Article
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
- Published in:
- 2016
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- Publication type:
- journal article
Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritis.
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- 2019
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- Publication type:
- journal article
Network- and systems-based re-engineering of dendritic cells with non-coding RNAs for cancer immunotherapy.
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- Theranostics, 2021, v. 11, n. 3, p. 1412, doi. 10.7150/thno.53092
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- Publication type:
- Article
Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.
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- Journal of Investigative Dermatology, 2015, v. 135, n. 10, p. 2538, doi. 10.1038/jid.2015.186
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- Article
MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation.
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- Human Mutation, 2015, v. 36, n. 1, p. 87, doi. 10.1002/humu.22711
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- Article
Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila.
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- Human Mutation, 2014, v. 35, n. 12, p. 1495, doi. 10.1002/humu.22697
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- Article
protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.
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- Human Molecular Genetics, 2019, v. 28, n. 15, p. 2531, doi. 10.1093/hmg/ddz075
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- Article
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.
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- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6552, doi. 10.1093/hmg/ddv347
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- Article
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3172, doi. 10.1093/hmg/ddv069
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- Article
Manifestation of epilepsy in a patient with EED‐related overgrowth (Cohen–Gibson syndrome).
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 292, doi. 10.1002/ajmg.a.62496
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- Article
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 50, doi. 10.1002/ajmg.a.60679
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- Article
Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2872, doi. 10.1002/ajmg.a.40640
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- Article
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3162, doi. 10.1002/ajmg.a.36766
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- Article
NDST1 missense mutations in autosomal recessive intellectual disability.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2753, doi. 10.1002/ajmg.a.36723
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- Article
Biallelic SEMA3A defects cause a novel type of syndromic short stature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2880, doi. 10.1002/ajmg.a.36250
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- Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
- Published in:
- 2021
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- Publication type:
- journal article
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.
- Published in:
- 2019
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- Publication type:
- journal article
TRIM28 haploinsufficiency predisposes to Wilms tumor.
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- International Journal of Cancer, 2019, v. 145, n. 4, p. 941, doi. 10.1002/ijc.32167
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- Article
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
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- International Journal of Cancer, 2017, v. 140, n. 1, p. 95, doi. 10.1002/ijc.30428
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- Publication type:
- Article
DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis.
- Published in:
- Arthritis Research & Therapy, 2017, v. 19, p. 1, doi. 10.1186/s13075-017-1276-2
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- Publication type:
- Article
Novel Loci for Non-Syndromic Coarctation of the Aorta in Sporadic and Familial Cases.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0126873
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- Article