| Nome |
# |
|
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression, file e309ade1-7717-3969-e053-3a05fe0a2c94
|
171
|
|
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking, file e309ade0-a582-3969-e053-3a05fe0a2c94
|
165
|
|
POPDC2 a novel susceptibility gene for conduction disorders, file e309ade4-dfb5-3969-e053-3a05fe0a2c94
|
159
|
|
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy, file e309ade0-d00c-3969-e053-3a05fe0a2c94
|
124
|
|
Merkel cell carcinomas arising in autoimmune disease affected patients treated with biologic drugs including anti-TNF, file e309ade1-8ae4-3969-e053-3a05fe0a2c94
|
96
|
|
Detection of Merkel Cell Polyomavirus DNA in Serum Samples of Healthy Blood Donors, file e309ade1-8d8e-3969-e053-3a05fe0a2c94
|
68
|
|
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries, file e309ade3-3b50-3969-e053-3a05fe0a2c94
|
58
|
|
Physical and transcriptional characterization of human urinary stem cell populations, file e309ade2-5afd-3969-e053-3a05fe0a2c94
|
53
|
|
High Human Papillomavirus DNA loads in Inflammatory Middle Ear Diseases, file e309ade4-6c0b-3969-e053-3a05fe0a2c94
|
52
|
|
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies, file e309ade2-9ddb-3969-e053-3a05fe0a2c94
|
50
|
|
SERPINA1 Gene Promoter Is Differentially Methylated in Peripheral Blood Mononuclear Cells of Pregnant Women, file e309ade2-b51e-3969-e053-3a05fe0a2c94
|
47
|
|
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family, file e309ade2-1ad6-3969-e053-3a05fe0a2c94
|
43
|
|
Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4, file e309ade4-7ca8-3969-e053-3a05fe0a2c94
|
43
|
|
Methylation of SERPINA1 gene promoter may predict chronic obstructive pulmonary disease in patients affected by acute coronary syndrome, file e309ade4-6eb0-3969-e053-3a05fe0a2c94
|
37
|
|
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing, file e309ade5-88ed-3969-e053-3a05fe0a2c94
|
32
|
|
High Human Papillomavirus DNA loads in Inflammatory Middle Ear Diseases, file e309ade4-a68d-3969-e053-3a05fe0a2c94
|
30
|
|
Solving unsolved rare neurological diseases—a Solve-RD viewpoint, file e309ade4-dee0-3969-e053-3a05fe0a2c94
|
27
|
|
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data, file e309ade4-e7f2-3969-e053-3a05fe0a2c94
|
23
|
|
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy, file e309ade2-c7c0-3969-e053-3a05fe0a2c94
|
18
|
|
MTHFR gene promoter hypermethylation correlates with semen samples of infertile couples with recurrence spontaneous abortion, file e309ade0-3a11-3969-e053-3a05fe0a2c94
|
16
|
|
Gene expression changes in progression of cervical neoplasia revealed by microarray analysis of cervical neoplastic keratinocytes, file e309ade0-ce94-3969-e053-3a05fe0a2c94
|
16
|
|
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype, file e309ade1-3a17-3969-e053-3a05fe0a2c94
|
14
|
|
Hypermethylation-induced inactivation of the IRF6 gene as a possible early event in progression of vulvar squamous cell carcinoma associated with lichen sclerosus, file e309ade0-e16b-3969-e053-3a05fe0a2c94
|
13
|
|
Effects of Synthetic Peptides on the Inflammatory Response and Their Therapeutic Potential., file e309ade0-36af-3969-e053-3a05fe0a2c94
|
12
|
|
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases, file e309ade4-f9a4-3969-e053-3a05fe0a2c94
|
12
|
|
Brugada Syndrome: More than a Monogenic Channelopathy, file 92c4f55e-a6b8-42b3-ab09-fa54c28e0156
|
10
|
|
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study, file e309ade2-c0a5-3969-e053-3a05fe0a2c94
|
10
|
|
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes, file e309ade4-e7f0-3969-e053-3a05fe0a2c94
|
10
|
|
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype, file e309ade0-3a91-3969-e053-3a05fe0a2c94
|
9
|
|
Association of retinoic acid receptor ß gene with onset and progression of lichen sclerosus-associated vulvar squamous cell carcinoma, file e309ade1-ddb1-3969-e053-3a05fe0a2c94
|
9
|
|
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain, file e309ade3-d269-3969-e053-3a05fe0a2c94
|
9
|
|
Tracing Males From Different Continents by Genotyping JC Polyomavirus in DNA From Semen Samples, file e309ade1-0384-3969-e053-3a05fe0a2c94
|
8
|
|
In vitro mitochondrial failure and oxidative stress mimic biochemical features of Alzheimer disease, file e309ade0-4215-3969-e053-3a05fe0a2c94
|
7
|
|
DMD gene molecular genetic characterization in Eastern Europe and non European countries, file e309ade2-61c0-3969-e053-3a05fe0a2c94
|
7
|
|
Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients, file e309ade5-3a03-3969-e053-3a05fe0a2c94
|
7
|
|
Huntington's disease-like presentation in Spinocerebellar ataxia type 12, file e309ade1-3b6e-3969-e053-3a05fe0a2c94
|
6
|
|
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14, file e1c5a79b-c4e9-4a6d-936b-ffa09e2f1ab5
|
5
|
|
Paternal germline mosaicism in collagen VI related myopathies, file e309ade0-88d5-3969-e053-3a05fe0a2c94
|
5
|
|
Differential inhibition of signaling pathways by two new imidazo-pyrazoles molecules in fMLF-OMe- and IL8-stimulated human neutrophil., file e309ade0-c2b2-3969-e053-3a05fe0a2c94
|
5
|
|
A Family with γ-Thalassemia and High Hb A2 Levels, file e309ade1-37e0-3969-e053-3a05fe0a2c94
|
5
|
|
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384], file e309ade1-fbb5-3969-e053-3a05fe0a2c94
|
5
|
|
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain, file e309ade2-3de1-3969-e053-3a05fe0a2c94
|
5
|
|
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project, file 3e3b76fe-d67a-4d39-9418-302226c6b280
|
4
|
|
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing, file c0585547-5de8-41a7-b376-b31a069906dd
|
4
|
|
Differential activation of protein kinase C isoforms following chemical ischemia in rat cerebral cortex slices., file e309ade0-2284-3969-e053-3a05fe0a2c94
|
4
|
|
Structural characterization of promoter sequences of the gene coding human PKI55 protein, a protein kinase C inhibitor, file e309ade0-28aa-3969-e053-3a05fe0a2c94
|
4
|
|
N-Aryl-2-phenyl-2,3-dihydro-imidazo[1,2-b]pyrazole-1-carboxamides 7-substituted strongly inhibiting both fMLP-OMe- and IL-8-induced human neutrophil chemotaxis, file e309ade0-33d4-3969-e053-3a05fe0a2c94
|
4
|
|
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation, file e309ade0-41aa-3969-e053-3a05fe0a2c94
|
4
|
|
Tracing Males From Different Continents by Genotyping JC Polyomavirus in DNA From Semen Samples, file e309ade0-fbef-3969-e053-3a05fe0a2c94
|
4
|
|
Effects of PKI55 protein, an endogenous protein kinase C modulator, on specific PKC isoforms activity and on human T cells proliferation, file e309ade1-99d0-3969-e053-3a05fe0a2c94
|
4
|
|
Hypermethylation-induced inactivation of IRF6 and RARΒ genes as potential prognostic biomarker in vulvar squamous cell carcinoma, file e309ade2-4be8-3969-e053-3a05fe0a2c94
|
4
|
|
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies, file e309ade2-5900-3969-e053-3a05fe0a2c94
|
4
|
|
Study of synthetic peptides derived from the PKI55 protein, a protein kinase C modulator, in human neutrophils stimulated by the methyl ester derivative of the hydrophobic N-formyl tripeptide for-Met-Leu-Phe-OH., file e309ade0-256e-3969-e053-3a05fe0a2c94
|
3
|
|
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia, file e309ade1-6d4b-3969-e053-3a05fe0a2c94
|
3
|
|
Report of a novel ATP7A mutation causing distal motor neuropathy, file e309ade2-5029-3969-e053-3a05fe0a2c94
|
3
|
|
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases, file e309ade5-2daf-3969-e053-3a05fe0a2c94
|
3
|
|
Mice genetic immunization with plasmid DNA encoding a secreted form of HSV-1 gB induces a protective immune response against herpes simplex virus type 1 infection, file e309ade0-381b-3969-e053-3a05fe0a2c94
|
2
|
|
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report, file e309ade0-4575-3969-e053-3a05fe0a2c94
|
2
|
|
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice, file e309ade0-487e-3969-e053-3a05fe0a2c94
|
2
|
|
Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4, file e309ade2-c830-3969-e053-3a05fe0a2c94
|
2
|
|
POPDC2 a novel susceptibility gene for conduction disorders, file e309ade2-e09b-3969-e053-3a05fe0a2c94
|
2
|
|
Brugada ECG pattern in hypertrophic cardiomyopathy: Brugada phenocopy or overlapping syndrome?, file e309ade5-2f16-3969-e053-3a05fe0a2c94
|
2
|
|
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing, file 4876a58a-fcba-4f94-b1a6-85bc75853965
|
1
|
|
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe, file 77d97f8b-295a-4730-9556-9f4e4d3cc5d6
|
1
|
|
null, file e309ade0-c0b1-3969-e053-3a05fe0a2c94
|
1
|
|
Involvement of specific PKC isoforms in atopic asthma patients, file e309ade1-968c-3969-e053-3a05fe0a2c94
|
1
|
|
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies, file e309ade2-c1b3-3969-e053-3a05fe0a2c94
|
1
|
| Totale |
1.570 |