| Nome |
# |
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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-a9c8-2581-e053-d805fe0acbaa
|
557
|
|
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair, file e27ce426-b566-2581-e053-d805fe0acbaa
|
516
|
|
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, file e27ce42f-3632-2581-e053-d805fe0acbaa
|
397
|
|
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders, file e27ce42e-c8b5-2581-e053-d805fe0acbaa
|
340
|
|
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications, file e27ce428-b9cb-2581-e053-d805fe0acbaa
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336
|
|
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome, file e27ce426-fd39-2581-e053-d805fe0acbaa
|
208
|
|
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization., file e27ce428-20c4-2581-e053-d805fe0acbaa
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207
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|
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient, file e27ce426-bcbf-2581-e053-d805fe0acbaa
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197
|
|
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes, file e27ce426-d7eb-2581-e053-d805fe0acbaa
|
183
|
|
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes, file e27ce42b-f0f5-2581-e053-d805fe0acbaa
|
180
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|
PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts, file e27ce42b-8e2a-2581-e053-d805fe0acbaa
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176
|
|
The KCNQ1OT1 Imprinting Control Region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases., file e27ce426-db25-2581-e053-d805fe0acbaa
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175
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|
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file e27ce427-03be-2581-e053-d805fe0acbaa
|
165
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Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair, file e27ce426-d3d1-2581-e053-d805fe0acbaa
|
154
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Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement, file e27ce42d-90e7-2581-e053-d805fe0acbaa
|
152
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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype., file e27ce426-c1d4-2581-e053-d805fe0acbaa
|
151
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Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review, file e27ce431-cd02-2581-e053-d805fe0acbaa
|
146
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|
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells, file e27ce42c-5e51-2581-e053-d805fe0acbaa
|
142
|
|
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-1580-2581-e053-d805fe0acbaa
|
136
|
|
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant, file e27ce42d-b5b3-2581-e053-d805fe0acbaa
|
135
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|
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability, file e27ce426-b16e-2581-e053-d805fe0acbaa
|
133
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CNS involvement in OFD1 syndrome: A clinical, molecular, and neuroimaging study, file e27ce42b-8b19-2581-e053-d805fe0acbaa
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130
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Recessive gene disruptions in autism spectrum disorder, file e27ce42e-e4b1-2581-e053-d805fe0acbaa
|
111
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Lateralized and segmental overgrowth in children, file e27ce434-838d-2581-e053-d805fe0acbaa
|
107
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|
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes, file e27ce42a-dc62-2581-e053-d805fe0acbaa
|
104
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Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results, file e27ce42c-8ed6-2581-e053-d805fe0acbaa
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103
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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability, file e27ce42d-90e9-2581-e053-d805fe0acbaa
|
94
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|
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-238b-2581-e053-d805fe0acbaa
|
90
|
|
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome, file e27ce42e-809a-2581-e053-d805fe0acbaa
|
86
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Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples, file e27ce429-adb7-2581-e053-d805fe0acbaa
|
78
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|
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce431-7ebb-2581-e053-d805fe0acbaa
|
78
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|
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus, file e27ce42f-72a1-2581-e053-d805fe0acbaa
|
77
|
|
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height, file e27ce434-b217-2581-e053-d805fe0acbaa
|
77
|
|
Esophageal duplication cyst in newborn, file e27ce42f-529e-2581-e053-d805fe0acbaa
|
74
|
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New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04b-2581-e053-d805fe0acbaa
|
69
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Pharmacological and clinical evaluation of deferasirox formulations for treatment tailoring, file e27ce432-7fb8-2581-e053-d805fe0acbaa
|
65
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|
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5), file e27ce430-b008-2581-e053-d805fe0acbaa
|
64
|
|
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question, file e27ce432-483f-2581-e053-d805fe0acbaa
|
62
|
|
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e27ce435-5c41-2581-e053-d805fe0acbaa
|
56
|
|
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes, file e27ce42f-5361-2581-e053-d805fe0acbaa
|
51
|
|
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder, file e27ce42c-4a3b-2581-e053-d805fe0acbaa
|
43
|
|
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies, file 4722b218-2248-4d8d-a066-df53efae7364
|
37
|
|
Recessive gene disruptions in autism spectrum disorder, file e27ce42f-3476-2581-e053-d805fe0acbaa
|
30
|
|
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome, file 0896349a-a018-4638-86d7-8bf5c47ffcac
|
24
|
|
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients, file e27ce430-8d26-2581-e053-d805fe0acbaa
|
24
|
|
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease, file e27ce434-4ab5-2581-e053-d805fe0acbaa
|
19
|
|
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients, file e27ce42e-c9f1-2581-e053-d805fe0acbaa
|
18
|
|
Recessive gene disruptions in autism spectrum disorder, file e27ce42f-3477-2581-e053-d805fe0acbaa
|
18
|
|
SOS1 mutations in Noonan syndrome:molecular spectrum, structural insights on pathogenic effects, andgenotype-phenotype correlations., file e27ce426-bd38-2581-e053-d805fe0acbaa
|
15
|
|
Mapping the human genetic architecture of COVID-19, file e27ce435-0d64-2581-e053-d805fe0acbaa
|
15
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|
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”, file e27ce435-a0d0-2581-e053-d805fe0acbaa
|
15
|
|
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients, file e27ce42c-7452-2581-e053-d805fe0acbaa
|
13
|
|
Prevalence of beckwith-wiedemann syndrome in North West of Italy, file e27ce426-fd37-2581-e053-d805fe0acbaa
|
9
|
|
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome, file e27ce435-4de9-2581-e053-d805fe0acbaa
|
9
|
|
Cryptic deletions are a common finding in balanced reciprocal and complex chromosome rearrangements: a study of 59 patients, file e27ce426-9e43-2581-e053-d805fe0acbaa
|
6
|
|
Prevention and management of hearing loss in syndromic craniosynostosis: A case series, file e27ce429-184b-2581-e053-d805fe0acbaa
|
6
|
|
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-157f-2581-e053-d805fe0acbaa
|
6
|
|
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism, file e27ce42b-f9be-2581-e053-d805fe0acbaa
|
6
|
|
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04c-2581-e053-d805fe0acbaa
|
6
|
|
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour, file e27ce426-abf6-2581-e053-d805fe0acbaa
|
4
|
|
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome, file e27ce426-b3ed-2581-e053-d805fe0acbaa
|
4
|
|
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot, file e27ce431-c9fa-2581-e053-d805fe0acbaa
|
4
|
|
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome, file e27ce435-0212-2581-e053-d805fe0acbaa
|
4
|
|
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts, file eb0c67bb-bde2-4459-af4c-b947b4534d65
|
4
|
|
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder, file 317fadea-2657-4e3d-b042-8c1365937726
|
3
|
|
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation, file 4a2ea4b2-97a1-427a-b5fa-bb6a62ce8d2f
|
3
|
|
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development, file 6c786e45-9770-4f98-b6fd-c8b4855bdfb7
|
3
|
|
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome, file e27ce426-b34d-2581-e053-d805fe0acbaa
|
3
|
|
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder, file e27ce42c-4956-2581-e053-d805fe0acbaa
|
3
|
|
Nomenclature and definition in asymmetric regional body overgrowth, file e27ce42d-1323-2581-e053-d805fe0acbaa
|
3
|
|
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome, file e27ce42d-99c1-2581-e053-d805fe0acbaa
|
3
|
|
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-4616-2581-e053-d805fe0acbaa
|
3
|
|
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-ab06-2581-e053-d805fe0acbaa
|
2
|
|
The overlap between Sotos and Beckwith-Wiedemann syndromes, file e27ce42a-723f-2581-e053-d805fe0acbaa
|
2
|
|
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol., file e27ce42a-8be7-2581-e053-d805fe0acbaa
|
2
|
|
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome, file e27ce42a-e5f1-2581-e053-d805fe0acbaa
|
2
|
|
Progressive extreme heterotopic calcification, file e27ce42c-259c-2581-e053-d805fe0acbaa
|
2
|
|
Cover Image, Volume 170A, Number 7, July 2016, file e27ce42c-2690-2581-e053-d805fe0acbaa
|
2
|
|
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome, file e27ce42d-99bd-2581-e053-d805fe0acbaa
|
2
|
|
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply, file e27ce42d-99bf-2581-e053-d805fe0acbaa
|
2
|
|
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-4617-2581-e053-d805fe0acbaa
|
2
|
|
Recessive gene disruptions in autism spectrum disorder, file e27ce42e-e4b2-2581-e053-d805fe0acbaa
|
2
|
|
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review, file e27ce431-c51a-2581-e053-d805fe0acbaa
|
2
|
|
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e27ce434-aeb3-2581-e053-d805fe0acbaa
|
2
|
|
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder, file 8f53b762-5590-461e-8d3b-db7c52aa94d2
|
1
|
|
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return, file dd95f770-bac2-44e2-a0a8-b3d4eb530d77
|
1
|
|
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome., file e27ce42a-a7e8-2581-e053-d805fe0acbaa
|
1
|
|
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results, file e27ce42d-b5b5-2581-e053-d805fe0acbaa
|
1
|
|
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele, file e27ce42d-b627-2581-e053-d805fe0acbaa
|
1
|
|
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, file e27ce42e-fdfb-2581-e053-d805fe0acbaa
|
1
|
|
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome, file e27ce432-6076-2581-e053-d805fe0acbaa
|
1
|
|
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”, file e27ce432-7166-2581-e053-d805fe0acbaa
|
1
|
|
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return, file fab4f1ea-62e9-4098-b177-7d3933490c0d
|
1
|
| Totale |
6.758 |