| Nome |
# |
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A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions, file e2f56eda-8dde-3eaf-e053-3a05fe0a5d97
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165
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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation, file e2f56ed9-77c5-3eaf-e053-3a05fe0a5d97
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132
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Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH, file e2f56ed9-638d-3eaf-e053-3a05fe0a5d97
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128
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New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach, file e2f56ed9-9458-3eaf-e053-3a05fe0a5d97
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111
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Genetic counseling during COVID-19 pandemic: Tuscany experience, file e2f56ed9-8a09-3eaf-e053-3a05fe0a5d97
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94
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A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study, file e2f56ed9-743e-3eaf-e053-3a05fe0a5d97
|
90
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Diagnostic implications of genetic copy number variation in epilepsy plus, file e2f56ed9-85aa-3eaf-e053-3a05fe0a5d97
|
86
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De novo unbalanced translocations have a complex history/aetiology, file e2f56ed9-6889-3eaf-e053-3a05fe0a5d97
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84
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PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib, file e2f56eda-50bd-3eaf-e053-3a05fe0a5d97
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84
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A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation, file e2f56ed9-4f78-3eaf-e053-3a05fe0a5d97
|
73
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Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome, file e2f56ed9-eb9f-3eaf-e053-3a05fe0a5d97
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72
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RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism, file e2f56ed9-9807-3eaf-e053-3a05fe0a5d97
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70
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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes, file 207d7df9-a947-4ee3-9ca0-af1df272377f
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69
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Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice, file e2f56eda-68c3-3eaf-e053-3a05fe0a5d97
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64
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Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM, file e2f56ed9-a246-3eaf-e053-3a05fe0a5d97
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61
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Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases, file e2f56ed9-688f-3eaf-e053-3a05fe0a5d97
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59
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The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis, file b00c257b-23a3-4c0b-a024-764d5c320771
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57
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Case report of an atypical early onset X-linked retinoschisis in monozygotic twins, file e2f56ed9-6395-3eaf-e053-3a05fe0a5d97
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53
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SLMSuite: a suite of algorithms for segmenting genomic profiles, file e2f56ed9-6392-3eaf-e053-3a05fe0a5d97
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50
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Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review, file e2f56ed9-ae2a-3eaf-e053-3a05fe0a5d97
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50
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Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype, file e2f56ed9-afd1-3eaf-e053-3a05fe0a5d97
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50
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Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis, file e2f56ed9-ae28-3eaf-e053-3a05fe0a5d97
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48
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Determinants of vitamin D levels in children and adolescents with Down syndrome, file e2f56ed9-75a1-3eaf-e053-3a05fe0a5d97
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47
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Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation, file e2f56ed9-7608-3eaf-e053-3a05fe0a5d97
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45
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A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G, file a8ad3af2-2038-446b-b2fd-f0e3f0503d1c
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42
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Distal renal tubular acidosis: a systematic approach from diagnosis to treatment, file e2f56ed9-ddb6-3eaf-e053-3a05fe0a5d97
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41
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Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection, file e2f56eda-8b72-3eaf-e053-3a05fe0a5d97
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36
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Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature, file e2f56eda-a8b9-3eaf-e053-3a05fe0a5d97
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27
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A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population, file e2f56eda-a125-3eaf-e053-3a05fe0a5d97
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23
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Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19, file f18bfd47-c9fd-44d2-9c43-bac6f10abe9b
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17
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STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways, file e2f56eda-b56e-3eaf-e053-3a05fe0a5d97
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16
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Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2, file e2f56eda-7199-3eaf-e053-3a05fe0a5d97
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15
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Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females, file 383200a4-4768-4f22-b68b-e149bb506ac7
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14
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Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder, file e2f56eda-9a8f-3eaf-e053-3a05fe0a5d97
|
12
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Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies, file 9fe124b5-1704-4ba5-87a5-923792b6bf0d
|
10
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Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay, file 13afcd02-3302-4f9a-96c5-c88a9ec26cc8
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9
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SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome, file 2ba2009a-1558-4209-9d61-68d7204ddb58
|
8
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Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder, file e2f56ed9-743d-3eaf-e053-3a05fe0a5d97
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4
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MICRORNAS PROFILE IN PAEDIATRIC GBMS, file e2f56ed9-77be-3eaf-e053-3a05fe0a5d97
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4
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Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report, file e2f56ed9-dc9f-3eaf-e053-3a05fe0a5d97
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4
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Decision trees to evaluate the risk of developing multiple sclerosis, file 43795037-e08d-455c-8bc3-67e839449d78
|
3
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MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS, file e2f56ed9-6884-3eaf-e053-3a05fe0a5d97
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3
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Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia?, file e2f56ed9-6885-3eaf-e053-3a05fe0a5d97
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3
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Multiorgan Infiltration by CD8+ T Cells and 1p;16p Translocation in a Patient with Hypogammaglobulinemia and a Reduced Number of B Cells, file 51604ab0-c0be-4bad-9aef-fb08011fdb36
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2
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Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching, file e2f56ed3-b8ba-3eaf-e053-3a05fe0a5d97
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2
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Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation, file e2f56ed9-4f7c-3eaf-e053-3a05fe0a5d97
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2
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Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?, file e2f56ed9-6328-3eaf-e053-3a05fe0a5d97
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2
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Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency, file e2f56ed9-638f-3eaf-e053-3a05fe0a5d97
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2
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Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay, file e2f56ed9-6397-3eaf-e053-3a05fe0a5d97
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2
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Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?, file e2f56ed9-6398-3eaf-e053-3a05fe0a5d97
|
2
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Small supernumerary marker chromosomes: A legacy of trisomy rescue?, file e2f56ed9-6399-3eaf-e053-3a05fe0a5d97
|
2
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Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency, file e2f56ed9-6886-3eaf-e053-3a05fe0a5d97
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2
|
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Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis, file e2f56ed9-6888-3eaf-e053-3a05fe0a5d97
|
2
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Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos, file e2f56ed9-688d-3eaf-e053-3a05fe0a5d97
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2
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Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome, file e2f56ed9-6893-3eaf-e053-3a05fe0a5d97
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2
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Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders, file e2f56ed9-6894-3eaf-e053-3a05fe0a5d97
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2
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SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type, file e2f56ed9-6895-3eaf-e053-3a05fe0a5d97
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2
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Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion, file e2f56ed9-8542-3eaf-e053-3a05fe0a5d97
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2
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A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review, file e2f56ed9-8759-3eaf-e053-3a05fe0a5d97
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2
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Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations, file e2f56ed9-93e6-3eaf-e053-3a05fe0a5d97
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2
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A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family, file e2f56ed9-4f0a-3eaf-e053-3a05fe0a5d97
|
1
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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene, file e2f56ed9-4f79-3eaf-e053-3a05fe0a5d97
|
1
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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients, file e2f56ed9-4f7b-3eaf-e053-3a05fe0a5d97
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1
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Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome, file e2f56ed9-4f7d-3eaf-e053-3a05fe0a5d97
|
1
|
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Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene, file e2f56ed9-4fac-3eaf-e053-3a05fe0a5d97
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1
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Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012, file e2f56ed9-4fad-3eaf-e053-3a05fe0a5d97
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1
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Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25, file e2f56ed9-5440-3eaf-e053-3a05fe0a5d97
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1
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Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3gene, file e2f56ed9-5442-3eaf-e053-3a05fe0a5d97
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1
|
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Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome, file e2f56ed9-5443-3eaf-e053-3a05fe0a5d97
|
1
|
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De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s, file e2f56ed9-5445-3eaf-e053-3a05fe0a5d97
|
1
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Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante = Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia, file e2f56ed9-5b6c-3eaf-e053-3a05fe0a5d97
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1
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Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis, file e2f56ed9-61e4-3eaf-e053-3a05fe0a5d97
|
1
|
|
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication, file e2f56ed9-6324-3eaf-e053-3a05fe0a5d97
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1
|
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Bone mineral status and metabolism in patients with Williams-Beuren syndrome, file e2f56ed9-6325-3eaf-e053-3a05fe0a5d97
|
1
|
|
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia, file e2f56ed9-6329-3eaf-e053-3a05fe0a5d97
|
1
|
|
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting, file e2f56ed9-638b-3eaf-e053-3a05fe0a5d97
|
1
|
|
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere, file e2f56ed9-638c-3eaf-e053-3a05fe0a5d97
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1
|
|
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity, file e2f56ed9-6390-3eaf-e053-3a05fe0a5d97
|
1
|
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Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition, file e2f56ed9-6394-3eaf-e053-3a05fe0a5d97
|
1
|
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Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation, file e2f56ed9-639c-3eaf-e053-3a05fe0a5d97
|
1
|
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Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome, file e2f56ed9-63f6-3eaf-e053-3a05fe0a5d97
|
1
|
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Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis, file e2f56ed9-65f3-3eaf-e053-3a05fe0a5d97
|
1
|
|
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene, file e2f56ed9-6882-3eaf-e053-3a05fe0a5d97
|
1
|
|
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?, file e2f56ed9-6887-3eaf-e053-3a05fe0a5d97
|
1
|
|
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome, file e2f56ed9-688a-3eaf-e053-3a05fe0a5d97
|
1
|
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Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis, file e2f56ed9-688c-3eaf-e053-3a05fe0a5d97
|
1
|
|
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene, file e2f56ed9-688e-3eaf-e053-3a05fe0a5d97
|
1
|
|
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective, file e2f56ed9-6892-3eaf-e053-3a05fe0a5d97
|
1
|
|
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype, file e2f56ed9-6a4a-3eaf-e053-3a05fe0a5d97
|
1
|
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A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia, file e2f56ed9-6a76-3eaf-e053-3a05fe0a5d97
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1
|
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Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains, file e2f56ed9-6b2e-3eaf-e053-3a05fe0a5d97
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1
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Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts, file e2f56ed9-7370-3eaf-e053-3a05fe0a5d97
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1
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Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3, file e2f56ed9-7590-3eaf-e053-3a05fe0a5d97
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1
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Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia, file e2f56ed9-75a4-3eaf-e053-3a05fe0a5d97
|
1
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Bone mineral status in children and adolescents with klinefelter syndrome, file e2f56ed9-7605-3eaf-e053-3a05fe0a5d97
|
1
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Y-chromosome microdeletions are not associated with SHOX haploinsufficiency, file e2f56ed9-83f1-3eaf-e053-3a05fe0a5d97
|
1
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Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia, file e2f56ed9-853d-3eaf-e053-3a05fe0a5d97
|
1
|
|
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes, file e2f56ed9-853e-3eaf-e053-3a05fe0a5d97
|
1
|
|
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1, file e2f56ed9-8541-3eaf-e053-3a05fe0a5d97
|
1
|
|
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes, file e2f56ed9-875b-3eaf-e053-3a05fe0a5d97
|
1
|
| Totale |
2.207 |