| Nome |
# |
|
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome, file e0feeaa4-d73c-44d2-e053-6605fe0a8db0
|
232
|
|
Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations, file e0feeaa4-e12b-44d2-e053-6605fe0a8db0
|
230
|
|
Clonality analysis of immunoglobulin gene rearrangement by next-generation sequencing in endemic burkitt lymphoma suggests antigen drive activation of bcr as opposed to sporadic burkitt lymphoma, file e0feeaa5-8ea4-44d2-e053-6605fe0a8db0
|
177
|
|
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies., file e0feeaa4-c371-44d2-e053-6605fe0a8db0
|
174
|
|
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
|
164
|
|
Omic Approach in Non-Smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine, file e0feeaa6-8085-44d2-e053-6605fe0a8db0
|
154
|
|
Preserved speech variant is allelic of classic Rett syndrome, file e0feeaa4-c209-44d2-e053-6605fe0a8db0
|
142
|
|
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes, file e0feeaa8-237e-44d2-e053-6605fe0a8db0
|
140
|
|
Analysis of the Phenotypes in the Rett Networked Database, file e0feeaa8-2b3e-44d2-e053-6605fe0a8db0
|
139
|
|
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome, file e0feeaa4-fb2f-44d2-e053-6605fe0a8db0
|
136
|
|
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants, file e0feeaa8-3af0-44d2-e053-6605fe0a8db0
|
135
|
|
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care, file e0feeaa7-e023-44d2-e053-6605fe0a8db0
|
134
|
|
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders, file e0feeaa7-8291-44d2-e053-6605fe0a8db0
|
132
|
|
Mutations in FN1 cause glomerulopathy with fibronectin deposits, file e0feeaa4-c225-44d2-e053-6605fe0a8db0
|
125
|
|
Non-collagen genes role in digenic Alport syndrome, file e0feeaa8-35e4-44d2-e053-6605fe0a8db0
|
120
|
|
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability., file e0feeaa4-c346-44d2-e053-6605fe0a8db0
|
118
|
|
Is complement alternative pathway disregulation involved in veno-occlusive disease of the liver?, file e0feeaa4-c370-44d2-e053-6605fe0a8db0
|
117
|
|
Commentary: Potential links between hepadnavirus and bornavirus sequences in the host genome and cancer, file e0feeaa7-a7d7-44d2-e053-6605fe0a8db0
|
117
|
|
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability, file e0feeaa7-fe02-44d2-e053-6605fe0a8db0
|
116
|
|
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder, file e0feeaa7-d654-44d2-e053-6605fe0a8db0
|
115
|
|
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases, file e0feeaa7-5463-44d2-e053-6605fe0a8db0
|
113
|
|
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders, file e0feeaa7-8261-44d2-e053-6605fe0a8db0
|
113
|
|
Evidence of digenic inheritance in Alport syndrome, file e0feeaab-c770-44d2-e053-6605fe0a8db0
|
111
|
|
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant, file e0feeaa7-fa4e-44d2-e053-6605fe0a8db0
|
110
|
|
null, file e0feeaaa-249a-44d2-e053-6605fe0a8db0
|
108
|
|
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder, file e0feeaa4-f3cf-44d2-e053-6605fe0a8db0
|
107
|
|
Alport syndrome: impact of digenic inheritance in patients management, file e0feeaab-67e0-44d2-e053-6605fe0a8db0
|
107
|
|
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome, file e0feeaa4-e882-44d2-e053-6605fe0a8db0
|
105
|
|
Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging, file e0feeaa7-82f1-44d2-e053-6605fe0a8db0
|
105
|
|
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, file e0feeaa8-ceda-44d2-e053-6605fe0a8db0
|
92
|
|
Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network, file e0feeaa9-21a2-44d2-e053-6605fe0a8db0
|
76
|
|
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation, file e0feeaa9-3c5a-44d2-e053-6605fe0a8db0
|
74
|
|
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients, file e0feeaa8-527c-44d2-e053-6605fe0a8db0
|
71
|
|
A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier, file e0feeaa9-e823-44d2-e053-6605fe0a8db0
|
71
|
|
null, file e0feeaaa-1f34-44d2-e053-6605fe0a8db0
|
67
|
|
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
|
66
|
|
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases, file e0feeaa8-bf24-44d2-e053-6605fe0a8db0
|
64
|
|
null, file e0feeaaa-52ef-44d2-e053-6605fe0a8db0
|
63
|
|
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report, file e0feeaa9-618d-44d2-e053-6605fe0a8db0
|
61
|
|
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks, file e0feeaaa-5497-44d2-e053-6605fe0a8db0
|
61
|
|
Digenic Alport Syndrome, file 6073b408-ee67-427c-bc3e-b254d28e918a
|
60
|
|
Visual impairment in FOXG1-mutated individuals and mice, file e0feeaab-c56c-44d2-e053-6605fe0a8db0
|
57
|
|
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability, file e0feeaa5-6d82-44d2-e053-6605fe0a8db0
|
54
|
|
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability., file e0feeaab-b7d2-44d2-e053-6605fe0a8db0
|
49
|
|
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
|
|
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases, file c3dd8963-2407-40af-810b-3e3996e34f62
|
42
|
|
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males., file e8887f01-8ecd-408c-a6e4-5b1d8e6d5c42
|
41
|
|
Evidence of predisposing epimutation in retinoblastoma, file e0feeaab-6d4c-44d2-e053-6605fe0a8db0
|
38
|
|
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients, file 0d4aac84-4a5c-4047-b15a-0985b9a24b17
|
33
|
|
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19, file 96f4df86-86ac-462c-8a12-3ca958289b45
|
30
|
|
Expert consensus guidelines for the genetic diagnosis of Alport syndrome, file e0feeaab-c829-44d2-e053-6605fe0a8db0
|
30
|
|
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy, file eea1da74-3789-4d68-96c1-767675171a30
|
27
|
|
Epilepsy in Rett syndrome - Lessons from the Rett networked database, file e0feeaab-bf0f-44d2-e053-6605fe0a8db0
|
22
|
|
null, file e0feeaab-b657-44d2-e053-6605fe0a8db0
|
21
|
|
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative, file 7dfdc292-6ca7-4a4f-a0ec-8903fa986824
|
20
|
|
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues, file b27bf0e9-010f-47e6-a116-48649af66e36
|
20
|
|
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
|
20
|
|
Clinical and molecular characterization of COVID-19 hospitalized patients, file 125e504f-f9c2-4d04-8ea6-eb60ed7246fe
|
19
|
|
COVID-19: a challenge and an opportunity, file e97ff014-1f3c-4709-bf92-e03e162471b3
|
19
|
|
null, file e0feeaaa-063d-44d2-e053-6605fe0a8db0
|
18
|
|
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder, file b20c7c6d-3484-4c52-b23e-882128b7e281
|
16
|
|
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts, file e0feeaab-68b5-44d2-e053-6605fe0a8db0
|
16
|
|
C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age, file 530676af-72b7-4a15-b48a-51204a80e40d
|
13
|
|
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes, file ebc57d5c-8d48-406c-b361-06dd583c7b6b
|
12
|
|
An explainable model of host genetic interactions linked to COVID-19 severity, file a40b8f9e-8132-42fb-ba8e-085aaa454eda
|
11
|
|
Whole-genome sequencing reveals host factors underlying critical COVID-19, file b47ac884-9c8d-4cf9-84ab-2c6dfbaa52e5
|
11
|
|
SELP Asp603Asn and severe thrombosis in COVID-19 males, file e0feeaaa-35ce-44d2-e053-6605fe0a8db0
|
10
|
|
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males, file 434b66aa-b383-4316-9027-8d28bd50a93f
|
9
|
|
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology, file e0feeaa6-2181-44d2-e053-6605fe0a8db0
|
9
|
|
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay., file e0feeaab-6df6-44d2-e053-6605fe0a8db0
|
9
|
|
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor, file e0feeaab-b43d-44d2-e053-6605fe0a8db0
|
9
|
|
null, file e0feeaa9-7c6e-44d2-e053-6605fe0a8db0
|
8
|
|
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues, file 4b6371f4-5458-443b-941a-cf972c6ace63
|
6
|
|
null, file d08e5ad0-9793-4637-b684-47b319c87cec
|
6
|
|
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis, file d3e278d5-ea93-4501-8e66-9ffa44309c22
|
6
|
|
Rett syndrome: revised diagnostic criteria and nomenclature., file e0feeaa4-e881-44d2-e053-6605fe0a8db0
|
6
|
|
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research, file 2280e542-6881-4bb1-813e-9235d2285d2d
|
5
|
|
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity, file d7cf9e79-1409-43ab-b33c-176302109711
|
5
|
|
Expert consensus guidelines for the genetic diagnosis of Alport syndrome, file e0feeaa8-4176-44d2-e053-6605fe0a8db0
|
5
|
|
Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family, file e0feeaa4-e7c1-44d2-e053-6605fe0a8db0
|
4
|
|
Advances in Alport syndrome diagnosis using next-generation sequencing, file e0feeaa4-e805-44d2-e053-6605fe0a8db0
|
4
|
|
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA., file e0feeaa4-ec13-44d2-e053-6605fe0a8db0
|
4
|
|
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases, file e0feeaa4-ec8c-44d2-e053-6605fe0a8db0
|
4
|
|
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder, file e0feeaa5-6d7e-44d2-e053-6605fe0a8db0
|
4
|
|
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype, file e0feeaa8-3580-44d2-e053-6605fe0a8db0
|
4
|
|
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay, file 5ed185b5-d73e-435b-bd2a-6d488d221ce8
|
3
|
|
FOXG1 is responsible for the congenital variant of Rett syndrome., file e0feeaa4-ebb1-44d2-e053-6605fe0a8db0
|
3
|
|
A Unique Patient Presenting with Concomitant Klinefelter Syndrome, Alport Syndrome and Craniopharyngioma., file e0feeaa4-ec10-44d2-e053-6605fe0a8db0
|
3
|
|
Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome, file e0feeaa4-ec12-44d2-e053-6605fe0a8db0
|
3
|
|
Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation, file e0feeaa5-0245-44d2-e053-6605fe0a8db0
|
3
|
|
2q24-q31 deletion: report of a case and review of the literature, file e0feeaa5-e918-44d2-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
|
|
null, file e0feeaa7-e022-44d2-e053-6605fe0a8db0
|
3
|
|
Evidence of predisposing epimutation in retinoblastoma, file e0feeaa7-f940-44d2-e053-6605fe0a8db0
|
3
|
|
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study, file 512d6119-39f2-474c-a2fd-045eb023d546
|
2
|
|
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation, file e0feeaa4-c1ee-44d2-e053-6605fe0a8db0
|
2
|
|
Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome, file e0feeaa4-db36-44d2-e053-6605fe0a8db0
|
2
|
|
The Italian XLMR bank: a clinical and molecular database, file e0feeaa4-df66-44d2-e053-6605fe0a8db0
|
2
|
|
Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome, file e0feeaa4-e7dc-44d2-e053-6605fe0a8db0
|
2
|
|
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus., file e0feeaa4-ec26-44d2-e053-6605fe0a8db0
|
2
|
| Totale |
5.565 |