| Nome |
# |
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Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance, file e0feeaa8-3583-44d2-e053-6605fe0a8db0
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164
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Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine, file e0feeaa6-8085-44d2-e053-6605fe0a8db0
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157
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Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome, file e0feeaa4-fb2f-44d2-e053-6605fe0a8db0
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136
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Non-collagen genes role in digenic Alport syndrome, file e0feeaa8-35e4-44d2-e053-6605fe0a8db0
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120
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Evidence of digenic inheritance in Alport syndrome, file e0feeaab-c770-44d2-e053-6605fe0a8db0
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111
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Alport syndrome: impact of digenic inheritance in patients management, file e0feeaab-67e0-44d2-e053-6605fe0a8db0
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107
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Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome, file e0feeaa9-add6-44d2-e053-6605fe0a8db0
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66
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RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report, file e0feeaa9-618d-44d2-e053-6605fe0a8db0
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62
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Visual impairment in FOXG1-mutated individuals and mice, file e0feeaab-c56c-44d2-e053-6605fe0a8db0
|
57
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iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome, file e0feeaab-ab72-44d2-e053-6605fe0a8db0
|
48
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The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males., file e8887f01-8ecd-408c-a6e4-5b1d8e6d5c42
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42
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Evidence of predisposing epimutation in retinoblastoma, file e0feeaab-6d4c-44d2-e053-6605fe0a8db0
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38
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Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients, file 0d4aac84-4a5c-4047-b15a-0985b9a24b17
|
34
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Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19, file 96f4df86-86ac-462c-8a12-3ca958289b45
|
32
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Expert consensus guidelines for the genetic diagnosis of Alport syndrome, file e0feeaab-c829-44d2-e053-6605fe0a8db0
|
30
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Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients, file e0feeaab-0e66-44d2-e053-6605fe0a8db0
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21
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Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder, file b20c7c6d-3484-4c52-b23e-882128b7e281
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16
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Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes, file ebc57d5c-8d48-406c-b361-06dd583c7b6b
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13
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An explainable model of host genetic interactions linked to COVID-19 severity, file a40b8f9e-8132-42fb-ba8e-085aaa454eda
|
12
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Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay., file e0feeaab-6df6-44d2-e053-6605fe0a8db0
|
9
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13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay, file 5ed185b5-d73e-435b-bd2a-6d488d221ce8
|
5
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Expert consensus guidelines for the genetic diagnosis of Alport syndrome, file e0feeaa8-4176-44d2-e053-6605fe0a8db0
|
5
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Advances in Alport syndrome diagnosis using next-generation sequencing, file e0feeaa4-e805-44d2-e053-6605fe0a8db0
|
4
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|
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA., file e0feeaa4-ec13-44d2-e053-6605fe0a8db0
|
4
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|
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases, file e0feeaa4-ec8c-44d2-e053-6605fe0a8db0
|
4
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MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype, file e0feeaa8-3580-44d2-e053-6605fe0a8db0
|
4
|
|
FOXG1 is responsible for the congenital variant of Rett syndrome., file e0feeaa4-ebb1-44d2-e053-6605fe0a8db0
|
3
|
|
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome, file e0feeaa5-f002-44d2-e053-6605fe0a8db0
|
3
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null, file e0feeaa7-e022-44d2-e053-6605fe0a8db0
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3
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|
Evidence of predisposing epimutation in retinoblastoma, file e0feeaa7-f940-44d2-e053-6605fe0a8db0
|
3
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Pathogen-sugar interactions revealed by universal saturation transfer analysis, file 83e3ea53-7dd8-465d-985b-a21f380e98c4
|
2
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The Italian XLMR bank: a clinical and molecular database, file e0feeaa4-df66-44d2-e053-6605fe0a8db0
|
2
|
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Private inherited microdeletion/microduplications: implications in clinical practice, file e0feeaa5-ea61-44d2-e053-6605fe0a8db0
|
2
|
|
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation, file e0feeaa7-17ff-44d2-e053-6605fe0a8db0
|
2
|
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Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma, file e0feeaa8-16f5-44d2-e053-6605fe0a8db0
|
2
|
|
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype, file e0feeaa8-9464-44d2-e053-6605fe0a8db0
|
2
|
|
Alport syndrome: impact of digenic inheritance in patients management, file e0feeaab-67e1-44d2-e053-6605fe0a8db0
|
2
|
|
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease, file e0feeaa4-df5d-44d2-e053-6605fe0a8db0
|
1
|
|
Clinical and molecular characterization of Italian patients affected by Cohen syndrome, file e0feeaa4-e3cc-44d2-e053-6605fe0a8db0
|
1
|
|
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms., file e0feeaa4-e427-44d2-e053-6605fe0a8db0
|
1
|
|
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett Syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication, file e0feeaa4-e4b6-44d2-e053-6605fe0a8db0
|
1
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|
Rett syndrome: the complex nature of a monogenic disease, file e0feeaa4-e69c-44d2-e053-6605fe0a8db0
|
1
|
|
iPS cells to model CDKL5-related disorders, file e0feeaa4-e806-44d2-e053-6605fe0a8db0
|
1
|
|
Array comparative genomic hybridization in retinoma and retinoblastoma tissues., file e0feeaa4-e87e-44d2-e053-6605fe0a8db0
|
1
|
|
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls, file e0feeaa4-f54d-44d2-e053-6605fe0a8db0
|
1
|
|
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing, file e0feeaa5-8d1f-44d2-e053-6605fe0a8db0
|
1
|
|
Visual impairment in FOXG1-mutated individuals and mice, file e0feeaa5-e7eb-44d2-e053-6605fe0a8db0
|
1
|
|
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features, file e0feeaa5-f387-44d2-e053-6605fe0a8db0
|
1
|
|
Genomic differences between retinoma and retinoblastoma., file e0feeaa6-1476-44d2-e053-6605fe0a8db0
|
1
|
|
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age, file e0feeaa7-0c9e-44d2-e053-6605fe0a8db0
|
1
|
|
Italian Rett database and biobank, file e0feeaa7-1c63-44d2-e053-6605fe0a8db0
|
1
|
|
The XLMR gene ACSL4 plays a role in dendritic spine architecture, file e0feeaa7-2dca-44d2-e053-6605fe0a8db0
|
1
|
|
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome, file e0feeaa7-7f45-44d2-e053-6605fe0a8db0
|
1
|
|
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism, file e0feeaa9-e3fa-44d2-e053-6605fe0a8db0
|
1
|
|
Evidence of digenic inheritance in Alport syndrome, file e0feeaa9-f086-44d2-e053-6605fe0a8db0
|
1
|
|
VAV1 HAPLOINSUFFICIENCY IN COMMON VARIABLE IMMUNODEFICIENCY WITH DEFECTIVE T CELL FUNCTION, file e0feeaaa-a2c4-44d2-e053-6605fe0a8db0
|
1
|
| Totale |
1.346 |