IRIS
Novelli, Antonio
 Distribuzione geografica
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Continente #
AS - Asia 6.324
NA - Nord America 5.419
SA - Sud America 1.928
EU - Europa 1.344
AF - Africa 283
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 15.304
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Nazione #
US - Stati Uniti d'America 4.942
SG - Singapore 1.964
BR - Brasile 1.439
BD - Bangladesh 1.358
CN - Cina 1.045
IT - Italia 891
HK - Hong Kong 714
VN - Vietnam 323
MX - Messico 206
IN - India 204
CA - Canada 164
AR - Argentina 156
TR - Turchia 96
IQ - Iraq 91
CO - Colombia 79
EC - Ecuador 77
ID - Indonesia 77
ZA - Sudafrica 76
PK - Pakistan 68
RU - Federazione Russa 61
VE - Venezuela 60
GB - Regno Unito 58
DE - Germania 52
SA - Arabia Saudita 52
FR - Francia 51
PH - Filippine 48
MA - Marocco 47
NL - Olanda 47
TN - Tunisia 39
MY - Malesia 38
UA - Ucraina 38
CL - Cile 36
JM - Giamaica 32
ES - Italia 30
PY - Paraguay 27
UZ - Uzbekistan 27
AE - Emirati Arabi Uniti 23
EG - Egitto 21
JO - Giordania 21
NP - Nepal 21
AZ - Azerbaigian 20
PE - Perù 19
KE - Kenya 18
UY - Uruguay 16
BO - Bolivia 15
CR - Costa Rica 15
ET - Etiopia 15
DZ - Algeria 14
HN - Honduras 13
IL - Israele 12
LB - Libano 12
KG - Kirghizistan 11
OM - Oman 11
JP - Giappone 10
KZ - Kazakistan 10
RS - Serbia 10
CZ - Repubblica Ceca 9
PL - Polonia 9
PS - Palestinian Territory 9
TH - Thailandia 9
AL - Albania 8
BE - Belgio 8
KR - Corea 8
TT - Trinidad e Tobago 8
DO - Repubblica Dominicana 7
NI - Nicaragua 7
SN - Senegal 7
BY - Bielorussia 6
IE - Irlanda 6
LY - Libia 6
NG - Nigeria 6
PA - Panama 6
PT - Portogallo 6
SI - Slovenia 6
TW - Taiwan 6
KW - Kuwait 5
BH - Bahrain 4
CH - Svizzera 4
DK - Danimarca 4
GE - Georgia 4
GT - Guatemala 4
HU - Ungheria 4
MU - Mauritius 4
QA - Qatar 4
RO - Romania 4
SE - Svezia 4
SV - El Salvador 4
SY - Repubblica araba siriana 4
BA - Bosnia-Erzegovina 3
BB - Barbados 3
GA - Gabon 3
GR - Grecia 3
KH - Cambogia 3
LA - Repubblica Popolare Democratica del Laos 3
LT - Lituania 3
RE - Reunion 3
XK - ???statistics.table.value.countryCode.XK??? 3
ZW - Zimbabwe 3
AM - Armenia 2
AT - Austria 2
Totale 15.244
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Città #
San Jose 2.479
Singapore 999
Ashburn 774
Hong Kong 702
Beijing 530
Santa Clara 181
Mexico City 168
New York 153
Rome 128
Ho Chi Minh City 126
São Paulo 110
Los Angeles 78
Hanoi 71
Milan 70
Buffalo 58
Dallas 48
Naples 46
Dhaka 42
Rio de Janeiro 42
Baghdad 37
Toronto 34
Belo Horizonte 33
Istanbul 33
Orem 28
Brasília 27
Chicago 27
Quito 27
Bologna 26
Curitiba 26
Porto Alegre 26
Medellín 24
Palermo 24
Johannesburg 23
Tashkent 23
Riyadh 22
Campinas 21
Kingston 21
Amman 20
Santiago 20
Turin 20
Caracas 19
Montreal 19
Salvador 19
Verona 19
Mumbai 18
Figino 17
Guayaquil 17
Baku 16
Bari 16
Casablanca 16
Catania 16
Kuala Lumpur 16
Nairobi 16
Philadelphia 16
Cape Town 15
Chennai 15
Haiphong 15
Jakarta 15
Jeddah 15
Montevideo 15
Buenos Aires 14
Florence 14
Goiânia 14
Phoenix 14
Tunis 14
Brooklyn 13
Charlotte 13
Karachi 13
Lahore 13
Addis Ababa 12
Atlanta 12
Miami 12
Asunción 11
Cairo 11
Delhi 11
Fortaleza 11
Houston 11
Las Vegas 11
Osasco 11
Petaling Jaya 11
Sorocaba 11
São Bernardo do Campo 11
Campo Grande 10
Erbil 10
Lima 10
London 10
Muscat 10
New Delhi 10
San José 10
Washington 10
Bishkek 9
Bogotá 9
Da Nang 9
Guarulhos 9
Padua 9
Pretoria 9
Queens 9
Berlin 8
Biên Hòa 8
Council Bluffs 8
Totale 8.112
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Nome #
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene 153
Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype-phenotype correlation 118
7q11.23 microduplication syndrome: Clinical and neurobehavioral profiling 111
Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging Phenotype 95
9q34.3 microduplications lead to Neurodevelopmental Disorders through EHMT1 overexpression 93
Non-Invasive Prenatal Test Analysis Opens a Pandora’s Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome 89
De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation 84
Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysis 83
Intractable diarrhea in infancy and molecular analysis: We are beyond the tip of the iceberg 79
Prenatal CFAP53-related laterality defect: case report and review of the literature 77
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 76
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders 74
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe 73
Evaluation of relative radiometric correction techniques on Landsat 8 OLI sensor data 72
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients 70
A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes 69
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports 67
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias 67
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum 66
Exploring the Clinical Spectrum of HUWE1-Related Neurodevelopmental Disorder: Five New Patients and Literature Review 65
3q29 Microdeletion: A mental Retardation Disorder Unassociated With a Recognizable Phenotype in Two Mother-Daughter Pairs 65
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2 64
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports 62
Microcephalic osteodysplastic primordial dwarfism typeIIand pachygyria: Morphometric analysis in a 2-year-old girl 60
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation 59
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability 59
When embryology meets genetics: the definition of developmentally incompetent preimplantation embryos (DIPE)-the consensus of two Italian scientific societies 58
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 58
Two Novel Biallelic Variants in the FARSA Gene: The First Italian Case and a Literature Review 58
2q31.2q32.3 Deletion Syndrome: Report of an Adult Patient 57
Cantù syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 56
Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality 56
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome 56
Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease 55
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort 55
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis 55
Congenital heart defects in molecularly confirmed KBG syndrome patients 54
Autoantibodies against type I IFNs in patients with life-threatening COVID-19 53
6p25 Interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder 53
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis 53
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome 52
Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report 51
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome 51
TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations 50
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review 50
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants 49
Deciphering Genetic Variants of Warfarin Metabolism in Children With Ventricular Assist Devices 49
Donor Splice-Site Mutation in CUL4B is Likely Cause of X-Linked Intellectual Disability 49
Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and genetic screening 49
Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype 49
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype 48
Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases 48
A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale 47
A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report 47
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology 47
Optical Genome Mapping: where molecular techniques give up 47
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis 47
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations 47
Homozygous Deletion in TUSC3 Causing Syndromic Intellectual Disability: A New Patient 46
335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features 46
A case report on filamin A gene mutation and progressive pulmonary disease in an infant A lung tissued derived mesenchymal stem cell study 45
Neonatal diagnosis of ACTA2-related disease: A case report and review of literature 45
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease 45
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 44
Identification of a robust DNA methylation signature for Fanconi anemia 44
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism 44
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 44
Thromboembolism after COVID-19 vaccine in patients with preexisting thrombocytopenia 43
IFNAR2Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis 43
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia 43
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 42
A Previously Undescribed De Novo 4p15 Deletion in a Patient With Apparently Isolated Metopic Craniosynostosis 42
Myoclonic Encephalopathy in 9q33-q34 Deletion Encompassing STXBP1 and SPTAN1 42
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease? 42
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients 42
Human neural stem cell transplantation in ALS: initial results from a phase I trial 42
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign 42
Sprengel Anomaly in Deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) Syndrome 41
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization 41
COVID‐19 and genetic variants of protein involved in the SARS‐CoV‐2 entry into the host cells 41
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies 41
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder 40
HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patients 40
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy 40
COVID-19: S-Peptide RBD 484–508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients 40
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review 40
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders 39
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation 39
Providing more evidence on LZTR1 variants in Noonan syndrome patients 39
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 39
3q27.3 microdeletional syndrome: A recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder 39
Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an “ultrasound first” approach 39
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient 39
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy 38
A lymphotactin-producing monoclonal T-cell lymphoproliferative disorder with extreme lymphocytopenia and progressive leukoencephalopathy [11] 38
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 38
17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature 38
Object-based greenhouse mapping using very high resolution satellite data and Landsat 8 time series 38
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation 38
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres 38
Totale 5.433
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Categoria #
all - tutte 61.177
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 61.177
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2024/20253.014 0 0 0 8 65 75 144 559 163 242 880 878
2025/202612.384 467 58 629 702 1.013 671 1.106 561 2.396 1.482 1.726 1.573
2026/2027398 398 0 0 0 0 0 0 0 0 0 0 0
Totale 15.796