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Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4035, doi. 10.3390/ijms24044035
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- Article
Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 10017, doi. 10.3390/ijms231710017
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- Article
Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5637, doi. 10.3390/ijms22115637
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- Article
Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3431, doi. 10.3390/ijms21103431
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- Article
Emerging Role of Genetic Alterations Affecting Exosome Biology in Neurodegenerative Diseases.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 17, p. 4113, doi. 10.3390/ijms20174113
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- Article
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
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- Human Genetics, 2024, v. 143, n. 6, p. 775, doi. 10.1007/s00439-024-02683-0
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- Article
Characterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams–Beuren syndrome region in chromosomal rearrangements.
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- Journal of Human Genetics, 2006, v. 51, n. 1, p. 68, doi. 10.1007/s10038-005-0326-9
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- Article
Hyper conserved elements in vertebrate mRNA 3′-UTRs reveal a translational network of RNA-binding proteins controlled by HuR.
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- Nucleic Acids Research, 2013, v. 41, n. 5, p. 3201, doi. 10.1093/nar/gkt017
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- Article
First cytogenetic study of a recurrent familial chordoma of the clivus.
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- International Journal of Cancer, 1999, v. 81, n. 1, p. 24, doi. 10.1002/(SICI)1097-0215(19990331)81:1<24::AID-IJC5>3.0.CO;2-O
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- Article
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome.
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- International Journal of Cancer, 1998, v. 77, n. 4, p. 504, doi. 10.1002/(SICI)1097-0215(19980812)77:4<504::AID-IJC5>3.0.CO;2-Y
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- Article
The 3' untranslated region of human Cyclin-Dependent Kinase 5Regulatory subunit 1 contains regulatory elements affectingtranscript stability.
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- BMC Molecular Biology, 2007, v. 8, p. 111, doi. 10.1186/1471-2199-8-111
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- Article
HDAC8 regulates canonical Wnt pathway to promote differentiation in skeletal muscles.
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- Journal of Cellular Physiology, 2019, v. 234, n. 5, p. 6067, doi. 10.1002/jcp.27341
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- Article
Centaurin-α<sub>2</sub> Interacts with β-Tubulin and Stabilizes Microtubules.
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- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052867
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- Article
The Role of miR-103 and miR-107 in Regulation of CDK5R1 Expression and in Cellular Migration.
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- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020038
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- Article
Identification of an atypical microdeletion generating the RNF135- SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.
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- Human Genetics, 2017, v. 136, n. 10, p. 1329, doi. 10.1007/s00439-017-1832-5
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- Article
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.
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- Human Genetics, 2004, v. 115, n. 1, p. 69, doi. 10.1007/s00439-004-1101-2
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- Article
NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.
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- Human Genetics, 2003, v. 113, n. 6, p. 551, doi. 10.1007/s00439-003-1009-2
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- Article
Genomic evidence versus characterisation of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in "balanced" chromosomal rearrangements. Reply.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 468, doi. 10.1007/s00439-002-0795-2
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- Article
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.
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- Human Genetics, 2002, v. 110, n. 4, p. 314, doi. 10.1007/s00439-002-0704-8
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- Article
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
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- Cancers, 2023, v. 15, n. 1, p. 59, doi. 10.3390/cancers15010059
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- Article
Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1531, doi. 10.1038/ejhg.2015.20
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- Article
MicroRNA-23b mediates urokinase and c-met downmodulation and a decreased migration of human hepatocellular carcinoma cells.
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- FEBS Journal, 2009, v. 276, n. 11, p. 2966, doi. 10.1111/j.1742-4658.2009.07014.x
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Educación financiera basada en los conocimientos financieros: un análisis en los beneficiarios del programa Campo Emprende.
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- Tesla Revista Científica, 2023, v. 3, n. 2, p. 1, doi. 10.55204/trc.v3i2.e182
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- Article
Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis.
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- International Journal of Cancer, 2003, v. 107, n. 3, p. 493, doi. 10.1002/ijc.11421
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- Article
A tumor suppressor locus in familial and sporadic chordoma maps to 1p36.
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- International Journal of Cancer, 2000, v. 87, n. 1, p. 68, doi. 10.1002/1097-0215(20000701)87:1<68::AID-IJC10>3.0.CO;2-V
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- Article
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR.
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- Annals of Human Genetics, 2024, v. 88, n. 3, p. 183, doi. 10.1111/ahg.12540
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- Article
The Contribution of Online Reviews for Quality Evaluation of Cultural Tourism Offers: The Experience of Italian Museums.
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- Sustainability (2071-1050), 2021, v. 13, n. 23, p. 13340, doi. 10.3390/su132313340
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- Article
Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.
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- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0171663
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- Article
Current therapeutic options and novel molecular markers in skull base chordomas.
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- Neurosurgical Review, 2012, v. 35, n. 1, p. 1, doi. 10.1007/s10143-011-0354-1
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- Article
Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients.
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- Genes, 2019, v. 10, n. 11, p. 892, doi. 10.3390/genes10110892
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Skull base chordomas: clinical outcome in a consecutive series of 45 patients with long-term follow-up and evaluation of clinical and biological prognostic factors.
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- Journal of Neurosurgery, 2016, v. 125, n. 2, p. 450, doi. 10.3171/2015.6.JNS142370
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- Article
Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2).
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- BMC Evolutionary Biology, 2007, v. 7, p. 39, doi. 10.1186/1471-2148-7-39
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- Article
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene.
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- Neurogenetics, 2023, v. 24, n. 3, p. 181, doi. 10.1007/s10048-023-00718-8
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- Article
Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.
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- Neurogenetics, 2008, v. 9, n. 2, p. 95, doi. 10.1007/s10048-007-0115-z
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- Article
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.
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- Neurogenetics, 2006, v. 7, n. 1, p. 59, doi. 10.1007/s10048-005-0026-9
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- Article
The miR-15/107 Family of microRNA Genes Regulates CDK5R1/p35 with Implications for Alzheimer's Disease Pathogenesis.
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- Molecular Neurobiology, 2017, v. 54, n. 6, p. 4329, doi. 10.1007/s12035-016-0002-4
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A 12-bp deletion ( 7818del12 ) in the c- kit protooncogene in a large Italian kindred with piebaldism.
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- Human Mutation, 1995, v. 6, n. 4, p. 343, doi. 10.1002/humu.1380060409
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- Article