| Nome |
# |
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PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol, file e3ad8916-cf57-da0e-e053-3705fe0a2b96
|
843
|
|
A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus., file e3ad8916-cf64-da0e-e053-3705fe0a2b96
|
638
|
|
Variable phenotype in 17q12 microdeletions: Clinical and molecular
characterization of a new case, file e3ad8916-bb96-da0e-e053-3705fe0a2b96
|
630
|
|
La Genomica in Sanità Pubblica.
Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione., file e3ad891b-5ea0-da0e-e053-3705fe0a2b96
|
382
|
|
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder, file e3ad8924-bc83-da0e-e053-3705fe0a2b96
|
295
|
|
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1, file e3ad891d-b27f-da0e-e053-3705fe0a2b96
|
283
|
|
2P15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment, file e3ad8919-e015-da0e-e053-3705fe0a2b96
|
272
|
|
Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?, file e3ad8916-cd5d-da0e-e053-3705fe0a2b96
|
255
|
|
Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome, file e3ad8916-d4d9-da0e-e053-3705fe0a2b96
|
250
|
|
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders, file e3ad8916-8b00-da0e-e053-3705fe0a2b96
|
221
|
|
Intrauterine growth pattern and birthweight discordance in twin pregnancies: a retrospective study, file e3ad8916-ce7f-da0e-e053-3705fe0a2b96
|
185
|
|
Whole-body magnetic resonance imaging in the diagnosis and follow-up of multicentric infantile myofibromatosis: A case report, file e3ad891a-b50b-da0e-e053-3705fe0a2b96
|
176
|
|
An acute headache due a nodulary swell- ing of the skull, file e3ad8916-860e-da0e-e053-3705fe0a2b96
|
174
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|
Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study, file e3ad8916-c9dd-da0e-e053-3705fe0a2b96
|
160
|
|
Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery, file e3ad8916-c9db-da0e-e053-3705fe0a2b96
|
156
|
|
A novel GABRB3 variant in Dravet syndrome: Case report and literature review, file e3ad8924-c9a8-da0e-e053-3705fe0a2b96
|
154
|
|
Susceptibility to heart defects in down syndrome is associated with single nucleotide polymorphisms in has 21 interferon receptor cluster and vegfa genes, file e3ad8924-95e6-da0e-e053-3705fe0a2b96
|
147
|
|
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?, file e3ad891f-6005-da0e-e053-3705fe0a2b96
|
142
|
|
Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future, file e3ad8916-c8d1-da0e-e053-3705fe0a2b96
|
136
|
|
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review, file e3ad891f-365c-da0e-e053-3705fe0a2b96
|
123
|
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16P11.2 MICRODELETION/MICRODUPLICATION SYNDROME: FURTHER CHARACTERIZATION
OF A CRITICAL REGION FOR NEUROPSYCHIATRIC DEVELOPMENT, file e3ad8916-d28c-da0e-e053-3705fe0a2b96
|
118
|
|
The role of polymorphisms of thiopurine methyltransferase in therapy with Azathioprine: preliminary study Journal of Biological Research, file e3ad891d-f2b4-da0e-e053-3705fe0a2b96
|
110
|
|
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series, file e3ad891c-f7dd-da0e-e053-3705fe0a2b96
|
101
|
|
COPY NUMBER VARIATIONS IN THE ETIOLOGY OF AUTISM SPECTRUM DISORDERS, file e3ad8916-ceed-da0e-e053-3705fe0a2b96
|
90
|
|
X-linked intellectual disability, file e3ad8918-c5c9-da0e-e053-3705fe0a2b96
|
87
|
|
Leri-Weill’s syndrome: clinical, radiological and genetic investigations in five patients, file e3ad8919-e67b-da0e-e053-3705fe0a2b96
|
72
|
|
CONGENITAL DIAPHRAGMATIC HERNIA AND ESOPHAGEAL ATRESIA: THE IMPORTANCE OF RESPIRATORY FOLLOW-UP IN CONGENITAL THORACIC MALFORMATION, file e3ad8916-f15e-da0e-e053-3705fe0a2b96
|
71
|
|
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: A case report and review of the literature, file e3ad8924-95e0-da0e-e053-3705fe0a2b96
|
68
|
|
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes, file e3ad8924-980c-da0e-e053-3705fe0a2b96
|
68
|
|
WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION., file e3ad8918-7d27-da0e-e053-3705fe0a2b96
|
64
|
|
Unusual paroxysmal autonomic manifestations in a 22 month old girl, file e3ad8918-4129-da0e-e053-3705fe0a2b96
|
48
|
|
Invasive pneumococcal diseases in children aged 1-59 months in sicily, Italy: Importance of active family paediatrician surveillance and vaccination coverage, file e3ad8916-cdf0-da0e-e053-3705fe0a2b96
|
41
|
|
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood, file e3ad8927-be7d-da0e-e053-3705fe0a2b96
|
39
|
|
Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism, file e3ad891b-d4ca-da0e-e053-3705fe0a2b96
|
34
|
|
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome, file e3ad8928-5214-da0e-e053-3705fe0a2b96
|
19
|
|
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability, file e3ad8928-1cff-da0e-e053-3705fe0a2b96
|
16
|
|
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders, file e3ad891f-6ac1-da0e-e053-3705fe0a2b96
|
12
|
|
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders, file e3ad8927-b9d2-da0e-e053-3705fe0a2b96
|
12
|
|
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature, file 38367df9-b807-4bc6-9bd7-4ff388b3a548
|
11
|
|
Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene, file 73d07229-e241-4a8e-b442-6e77cc10e37b
|
11
|
|
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid, file c6d44886-5875-4811-a80c-8103240ddb25
|
8
|
|
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly, file 4cac2817-138a-49df-ae49-70927f4e37ac
|
7
|
|
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies, file e3ad8928-1d01-da0e-e053-3705fe0a2b96
|
7
|
|
Apolipoprotein E genotypic frequencies among Down syndrome patients imply early unsuccessful aging for ApoE4 carriers, file e3ad8919-4ae1-da0e-e053-3705fe0a2b96
|
5
|
|
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire, file e3ad8919-d5aa-da0e-e053-3705fe0a2b96
|
5
|
|
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform, file e3ad891b-7fd6-da0e-e053-3705fe0a2b96
|
5
|
|
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification, file e3ad8924-fb37-da0e-e053-3705fe0a2b96
|
5
|
|
4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization, file e3ad8918-c48a-da0e-e053-3705fe0a2b96
|
4
|
|
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients, file e3ad8919-fd39-da0e-e053-3705fe0a2b96
|
4
|
|
Identification of novel mutations in L1CAM gene by a DHPLC-based assay, file e3ad891b-67f9-da0e-e053-3705fe0a2b96
|
4
|
|
2P15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment, file e3ad8924-4d87-da0e-e053-3705fe0a2b96
|
4
|
|
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily, file 3c00f9f0-2677-4137-88be-5addce17feb6
|
3
|
|
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes, file e3ad8915-84a4-da0e-e053-3705fe0a2b96
|
3
|
|
A novel L1CAM mutation in a fetus detected by prenatal diagnosis, file e3ad8915-84a7-da0e-e053-3705fe0a2b96
|
3
|
|
14q13.1-21.1 Deletion Encompassing the HPE8 Locus in an Adolescent With Intellectual Disability and Bilateral Microphthalmia, But Without Holoprosencephaly, file e3ad8916-72b8-da0e-e053-3705fe0a2b96
|
3
|
|
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION, file e3ad8919-b936-da0e-e053-3705fe0a2b96
|
3
|
|
Epidemiological study of nonsyndromic hearing loss in sicilian newborns, file e3ad8919-c23d-da0e-e053-3705fe0a2b96
|
3
|
|
Array CGH defined interstitial deletion on chromosome 14: a new case, file e3ad891c-0b72-da0e-e053-3705fe0a2b96
|
3
|
|
Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features, file e3ad891c-2237-da0e-e053-3705fe0a2b96
|
3
|
|
IDENTIFICATION OF TWO NEW MUTATIONS IN TRPS 1 GENE LEADING TO THE THRICHO-RHINO-PHALANGEAL SYNDROME TYPE I AND III, file e3ad891c-a03d-da0e-e053-3705fe0a2b96
|
3
|
|
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer
syndrome., file e3ad891c-d2d6-da0e-e053-3705fe0a2b96
|
3
|
|
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders, file ff66187f-41e1-4551-aaf7-b2a74c2e9ce6
|
3
|
|
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility, file 0f7db257-8e3b-4aec-bcbc-92c4ed2b6d1e
|
2
|
|
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders, file 24c5c7b9-ea56-4958-8aaa-ce79ef75d083
|
2
|
|
10qter deletion: A new case, file e3ad8915-89bd-da0e-e053-3705fe0a2b96
|
2
|
|
Deletion of NSD1 exon 14 in Sotos syndrome: first description., file e3ad8915-df6d-da0e-e053-3705fe0a2b96
|
2
|
|
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH, file e3ad8916-5c12-da0e-e053-3705fe0a2b96
|
2
|
|
Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas, file e3ad8916-648e-da0e-e053-3705fe0a2b96
|
2
|
|
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome., file e3ad8916-6588-da0e-e053-3705fe0a2b96
|
2
|
|
Perlman sindrome: Clinical report and nine-year follow-up, file e3ad891a-0565-da0e-e053-3705fe0a2b96
|
2
|
|
A premature infant with Costello syndrome due to a rare G13C HRAS mutation, file e3ad891a-1a65-da0e-e053-3705fe0a2b96
|
2
|
|
PATTERNS ELETTROGASTROGRAFICI IN NATI PRETERMINE DA GRAVIDANZA SINGOL,A E MULTIPLA. Dati Preliminari, file e3ad891b-c848-da0e-e053-3705fe0a2b96
|
2
|
|
Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q., file e3ad891e-0213-da0e-e053-3705fe0a2b96
|
2
|
|
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L), file e3ad8925-92c9-da0e-e053-3705fe0a2b96
|
2
|
|
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene, file 9f72eff3-08f3-499d-9a67-164958f1544e
|
1
|
|
Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings., file e3ad8915-8cfd-da0e-e053-3705fe0a2b96
|
1
|
|
Epidemiologia Della Sordità Geneticamente Trasmessa Nella Popolazione Siciliana, file e3ad8915-ac54-da0e-e053-3705fe0a2b96
|
1
|
|
Epidemiologia Della Sordità Geneticamente Trasmessa Nella Popolazione Siciliana, file e3ad8915-ac55-da0e-e053-3705fe0a2b96
|
1
|
|
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation., file e3ad8916-5d37-da0e-e053-3705fe0a2b96
|
1
|
|
Clinical Significance of Rare Copy Number
Variations in Epilepsy. A Case-Control Survey Using Microarray-Based Comparative
Genomic Hybridization, file e3ad8916-72bf-da0e-e053-3705fe0a2b96
|
1
|
|
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C, file e3ad8919-dec8-da0e-e053-3705fe0a2b96
|
1
|
|
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis, file e3ad891a-2a14-da0e-e053-3705fe0a2b96
|
1
|
|
DELEZIONE CROMOSOMICA CRIPTICA 1p31.1: EFFICACIA DELLA TERAPIA COMBINATA CON L-TIROXINA, GH ED LHRHa PER MIGLIORARE LA PROGNOSI STATURALE, file e3ad891f-825b-da0e-e053-3705fe0a2b96
|
1
|
|
Oriental facial features, growth impairment, mental retardation, hypotonia, severe scoliosis, and precocious thelarche in females., file e3ad8922-35bb-da0e-e053-3705fe0a2b96
|
1
|
|
Very early prenatal diagnosis of Cockayne’s syndrome by coelocentesis, file e3ad8928-19a8-da0e-e053-3705fe0a2b96
|
1
|
| Totale |
6.840 |