IRIS
Novelli, Antonio
 Distribuzione geografica
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Continente #
AS - Asia 993
SA - Sud America 469
NA - Nord America 219
EU - Europa 207
AF - Africa 17
Totale 1.905
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Nazione #
SG - Singapore 756
BR - Brasile 448
US - Stati Uniti d'America 144
HK - Hong Kong 109
IT - Italia 106
MX - Messico 65
CN - Cina 37
DE - Germania 26
TR - Turchia 19
GB - Regno Unito 18
IN - India 17
NL - Olanda 17
BD - Bangladesh 13
UA - Ucraina 10
IQ - Iraq 9
AR - Argentina 8
RU - Federazione Russa 8
CA - Canada 6
ID - Indonesia 6
MA - Marocco 6
JP - Giappone 5
NP - Nepal 5
VE - Venezuela 5
CO - Colombia 4
FR - Francia 4
PK - Pakistan 4
ZA - Sudafrica 4
CZ - Repubblica Ceca 3
ES - Italia 3
PL - Polonia 3
SA - Arabia Saudita 3
TN - Tunisia 3
UZ - Uzbekistan 3
EC - Ecuador 2
IE - Irlanda 2
JM - Giamaica 2
KE - Kenya 2
KG - Kirghizistan 2
PT - Portogallo 2
SE - Svezia 2
SI - Slovenia 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AZ - Azerbaigian 1
CL - Cile 1
DO - Repubblica Dominicana 1
EG - Egitto 1
HN - Honduras 1
IL - Israele 1
PY - Paraguay 1
SN - Senegal 1
Totale 1.905
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Città #
Singapore 476
Hong Kong 99
Mexico City 60
Rome 60
São Paulo 31
Beijing 30
Rio de Janeiro 15
Belo Horizonte 13
Santa Clara 13
Bologna 10
Istanbul 9
Brasília 7
Campinas 7
Curitiba 7
Porto Alegre 7
Ashburn 5
Boydton 5
Jena 5
Campo Grande 4
Dhaka 4
Goiânia 4
Salvador 4
Xi'an 4
Anápolis 3
Bauru 3
Campina Grande 3
Caracas 3
Chennai 3
Chino 3
Contagem 3
Erbil 3
Fortaleza 3
Guarulhos 3
Houston 3
Jequié 3
Juiz de Fora 3
Krefeld 3
Milan 3
New Delhi 3
New York 3
Nova Iguaçu 3
Osasco 3
Riyadh 3
São Caetano do Sul 3
São José do Rio Preto 3
Adrogué 2
Agadir 2
Americana 2
Atlanta 2
Barbacena 2
Belford Roxo 2
Belém 2
Bilbao 2
Bishkek 2
Bitonto 2
Boa Vista 2
Brescia 2
Brooklyn 2
Caruaru 2
Casablanca 2
Chicago 2
Coronel Fabriciano 2
Cotia 2
Council Bluffs 2
Dublin 2
Duhok 2
Dąbrowa Górnicza 2
Florianópolis 2
Gothenburg 2
Guarujá 2
Hazleton 2
Hortolândia 2
Indaiatuba 2
Itabira 2
Itaquaquecetuba 2
Jacobina 2
Juazeiro do Norte 2
Karachi 2
Kathmandu 2
Kayseri 2
Kingston 2
Kütahya 2
Lagoa da Prata 2
Lanham 2
Lisbon 2
Londrina 2
Lorena 2
Los Angeles 2
Maceió 2
Magé 2
Manhuaçu 2
Maringá 2
Matinhos 2
Mauá 2
Miami 2
Nairobi 2
Naples 2
Nova Era 2
Novo Horizonte 2
Ourinhos 2
Totale 1.055
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Nome #
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene 98
Evaluation of relative radiometric correction techniques on Landsat 8 OLI sensor data 36
Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysis 31
Optical Genome Mapping: where molecular techniques give up 16
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability 15
Autoantibodies against type I IFNs in patients with critical influenza pneumonia 14
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies 14
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia 13
Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? 13
NOVEL MICROEMULSION FORMULATION REDUCES ACID-HYDROLYSIS OF RADIOPROTECTOR WR-2721 12
A lymphotactin-producing monoclonal T-cell lymphoproliferative disorder with extreme lymphocytopenia and progressive leukoencephalopathy [11] 11
The use of geomorphological descriptors and landsat-8 spectral indices data for flood areas evaluation: A case study of Lato river basin 11
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 11
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies 11
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings 10
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum 10
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients 10
Identification of a robust DNA methylation signature for Fanconi anemia 9
TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations 9
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis 9
Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics 9
When embryology meets genetics: the definition of developmentally incompetent preimplantation embryos (DIPE)-the consensus of two Italian scientific societies 9
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease 9
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization 9
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children 9
A new national survey of centers for cognitive disorders and dementias in Italy 9
COVID‐19 and genetic variants of protein involved in the SARS‐CoV‐2 entry into the host cells 9
Prenatal CFAP53-related laterality defect: case report and review of the literature 9
Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience 9
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision 9
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome Medicine, (2023), 15, 1, (22), 10.1186/s13073-023-01173-8) 8
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 8
A Spatially-Explicit Economic and Financial Assessment of Closed-Loop Ground-Source Geothermal Heat Pumps: A Case Study for the Residential Buildings of Valle d'Aosta Region 8
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D 8
Erratum: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (Genetics in Medicine (2023) 25(10), (S1098360023009401), (10.1016/j.gim.2023.100927)) 8
1p36 deletion syndrome and the aorta: A report of three new patients and a literature review 8
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 8
A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined 8
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 8
A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? 8
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features 8
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers 8
17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature 8
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 8
High-resolution SNP arrays in mental retardation diagnostics: How much do we gain 8
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involvingNRXN1: Report of five new cases 8
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect 8
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype 8
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 8
Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study 8
FOXI3 pathogenic variants cause one form of craniofacial microsomia 8
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 7
Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation 7
Erratum: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (The American Journal of Human Genetics (2023) 110(1) (120–145), (S000292972200502X), (10.1016/j.ajhg.2022.11.011)) 7
Spectrum of epilepsy in terminal 1p36 deletion syndrome 7
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (Frontiers in Psychiatry, (2024), 14, (1327802), 10.3389/fpsyt.2023.1327802) 7
15q11.2 microdeletion and hypoplastic left heart syndrome 7
Prevention of recurrent respiratory infections Inter-society Consensus 7
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis 7
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 7
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 7
HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patients 7
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 7
IFNAR2Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis 7
Current status of cationic liposome-mediated gene therapy in cystic fibrosis 7
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects 7
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 7
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability 7
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements 7
Exon-trapping assay improves clinical interpretation of COL11A1 and COL11A2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia 7
Pure trisomy 19p syndrome in an infant with an extra ring chromosome 7
CLINICAL AND THERAPEUTIC FEATURES OF 270 PATIENTS WITH MACROPHAGE ACTIVATION SYNDROME ENROLLED IN A MULTINATIONAL SURVEY 7
Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases 7
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome 7
Reproductive history of a healthy woman with mosaic duplication of chromosome 4p 7
KBG syndrome: Common and uncommon clinical features based on 31 new patients 7
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis 7
CUGC for lysinuric protein intolerance (LPI) 7
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood 7
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome 7
Combining ad hoc spectral indices based on LANDSAT-8 OLI/TIRS sensor data for the detection of plastic cover vineyard 6
Molecular cytogenetic characterization of two cases with cryptic rearrangements of the 6q subtelomeric region 6
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy 6
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation 6
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder 6
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome 6
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation 6
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome 6
Autoantibodies against type I IFNs in patients with life-threatening COVID-19 6
Phenocopy of Wolf-Hirschhorn Syndrome in a Patient With Duplication 12q13.3q14.1 6
Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient 6
Expression analysis of miRNA hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients supports its role in regulating ACE2 and DPP4 receptors 6
Cantù syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 6
Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study 6
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 6
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy 6
A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale 6
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome 6
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 6
Gonadotropin independent precocious puberty and adrenal insufficiency: common clinical presentation of different genetic defects 6
Totale 944
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Categoria #
all - tutte 9.024
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 9.024
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2024/20252.394 0 0 0 8 65 75 144 559 163 242 880 258
Totale 2.394