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IPLEX Administration Improves Motor Neuron Survival and Ameliorates Motor Functions in a Severe Mouse Model of Spinal Muscular Atrophy.
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- Molecular Medicine, 2012, v. 18, n. 7, p. 1076, doi. 10.2119/molmed.2012.00056
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- Article
Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes.
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- Acta Diabetologica, 2014, v. 51, n. 4, p. 663, doi. 10.1007/s00592-014-0582-2
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- Article
MicroRNA genetic variations: association with type 2 diabetes.
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- Acta Diabetologica, 2013, v. 50, n. 6, p. 867, doi. 10.1007/s00592-013-0469-7
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- Article
TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy.
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- Acta Diabetologica, 2013, v. 50, n. 5, p. 789, doi. 10.1007/s00592-012-0418-x
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- Article
Pro-oncogenic action of LOX-1 and its splice variant LOX-1Δ4 in breast cancer phenotypes.
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- Cell Death & Disease, 2019, v. 10, n. 2, p. 1, doi. 10.1038/s41419-018-1279-1
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- Article
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.
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- Acta Myologica, 2020, v. 39, n. 4, p. 320, doi. 10.36185/2532-1900-036
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- Article
Indole-3-carbinol in vitro antiviral activity against SARS-Cov-2 virus and in vivo toxicity.
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- Cell Death Discovery, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41420-022-01280-2
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- Article
Volatile compounds emission from teratogenic human pluripotent stem cells observed during their differentiation in vivo.
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- Scientific Reports, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1038/s41598-018-29212-0
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- Article
A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.
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- Frontiers in Aging Neuroscience, 2016, p. 1, doi. 10.3389/fnagi.2016.00220
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- Article
A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program.
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- Acta Haematologica, 2009, v. 121, n. 4, p. 234, doi. 10.1159/000226423
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- Article
3′-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients.
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- Internal & Emergency Medicine, 2014, v. 9, n. 3, p. 273, doi. 10.1007/s11739-012-0857-y
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- Article
DSP -Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2490, doi. 10.3390/ijms24032490
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- Article
Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9875, doi. 10.3390/ijms22189875
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- Article
Specific miRNA and Gene Deregulation Characterize the Increased Angiogenic Remodeling of Thoracic Aneurysmatic Aortopathy in Marfan Syndrome.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 18, p. 6886, doi. 10.3390/ijms21186886
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- Article
Early Hippocampal i-LTP and LOX-1 Overexpression Induced by Anoxia: A Potential Role in Neurodegeneration in NPC Mouse Model.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 7, p. 1442, doi. 10.3390/ijms18071442
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- Article
SMA Human iPSC-Derived Motor Neurons Show Perturbed Differentiation and Reduced miR-335-5p Expression.
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- International Journal of Molecular Sciences, 2016, v. 17, n. 8, p. 1231, doi. 10.3390/ijms17081231
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- Article
A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA).
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- International Journal of Molecular Sciences, 2015, v. 16, n. 8, p. 18312, doi. 10.3390/ijms160818312
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- Article
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies.
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- Cell Biochemistry & Function, 2003, v. 21, n. 3, p. 263, doi. 10.1002/cbf.1021
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- Article
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
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- Article
Application of Next Generation Sequencing for personalized medicine for sudden cardiac death.
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- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00055
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- Article
Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy.
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- Genes, 2021, v. 13, n. 6, p. 793, doi. 10.3390/genes12060793
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- Article
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
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- Genes, 2019, v. 10, n. 10, p. 764, doi. 10.3390/genes10100764
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- Article
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 667, doi. 10.1038/sj.ejhg.5200707
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- Article
82. Cftr Gene Targeting in Murine ES Cells Mediated by the SFHR Technique.
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- Molecular Therapy, 2006, v. 13, p. S34, doi. 10.1016/j.ymthe.2006.08.100
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- Article
651. Oligonucleotide-Mediated Gene Repair Restores Full Length SMN mRNA Expression in Mutant-SMN Murine Fibroblasts
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- 2005
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- Abstract
568. In Vitro SFHR-Mediated Modification of SMA Locus in Different Human Trophoblast Cells
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- 2005
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- Abstract
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.668094
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- Article
Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis.
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- Annals of Human Genetics, 2020, v. 84, n. 6, p. 463, doi. 10.1111/ahg.12396
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- Article
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00883-8
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- Article
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.
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- Electrophoresis, 2016, v. 37, n. 5/6, p. 860, doi. 10.1002/elps.201500346
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- Article
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.
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- Familial Cancer, 2016, v. 15, n. 1, p. 123, doi. 10.1007/s10689-015-9836-6
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- Article
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.
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- Prenatal Diagnosis, 2004, v. 24, n. 10, p. 839, doi. 10.1002/pd.964
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- Article
An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.
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- Clinical Case Reports, 2020, v. 8, n. 8, p. 1445, doi. 10.1002/ccr3.2881
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- Article
Small Fragment Homologous Replacement: Evaluation of Factors Influencing Modification Efficiency in an Eukaryotic Assay System.
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- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030851
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- Article
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.
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- Neuroradiology Journal, 2015, v. 28, n. 3, p. 289, doi. 10.1177/1971400915591688
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- Article
Natriuretic peptides are neuroprotective on in vitro models of PD and promote dopaminergic differentiation of hiPSCs-derived neurons via the Wnt/β-catenin signaling.
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- Cell Death Discovery, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41420-021-00723-6
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- Article
Periodontal condition in growing subjects with Marfan Syndrome: a case-control study.
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- PeerJ, 2019, p. 1, doi. 10.7717/peerj.6606
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- Article
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene.
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- IUBMB Life, 1999, v. 47, n. 2, p. 337, doi. 10.1080/15216549900201363
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- Article
Recombinant CTFR detection in CF tracheal epithelial cells following in vitro liposomeme-mediated gene transfer.
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- IUBMB Life, 1997, v. 42, n. 4, p. 723, doi. 10.1080/15216549700203151
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- Article
Effects of Simulated Microgravity on Wild Type and Marfan hiPSCs-Derived Embryoid Bodies.
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- Cellular & Molecular Bioengineering, 2021, v. 14, n. 6, p. 613, doi. 10.1007/s12195-021-00680-1
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- Article
Targeting LOX-1 Inhibits Colorectal Cancer Metastasis in an Animal Model.
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- Frontiers in Oncology, 2019, p. 1, doi. 10.3389/fonc.2019.00927
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- Article
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0164-3
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- Publication type:
- Article
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
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- BMC Medical Genetics, 2004, v. 5, p. 8, doi. 10.1186/1471-2350-5-8
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- Article
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique.
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- BMC Medical Genetics, 2002, v. 3, p. 1
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- Article
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
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- Human Mutation, 2004, v. 23, n. 4, p. 396, doi. 10.1002/humu.9223
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- Article
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
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- Human Mutation, 1996, v. 8, n. 4, p. 369, doi. 10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.0.CO;2-0
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- Article
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.
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- Human Mutation, 1995, v. 5, n. 1, p. 23, doi. 10.1002/humu.1380050103
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- Article
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.
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- Human Mutation, 1993, v. 2, n. 5, p. 422, doi. 10.1002/humu.1380020517
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- Article
Cell Electrokinetic Fingerprint: A Novel Approach Based on Optically Induced Dielectrophoresis (ODEP) for In‐Flow Identification of Single Cells (Small Methods 8/2024).
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- Small Methods, 2024, v. 8, n. 8, p. 1, doi. 10.1002/smtd.202470045
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- Publication type:
- Article
Cell Electrokinetic Fingerprint: A Novel Approach Based on Optically Induced Dielectrophoresis (ODEP) for In‐Flow Identification of Single Cells.
- Published in:
- Small Methods, 2024, v. 8, n. 8, p. 1, doi. 10.1002/smtd.202300923
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- Publication type:
- Article