IRIS
ERRICHIELLO, EDOARDO
 Distribuzione geografica
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Continente #
NA - Nord America 889
EU - Europa 564
AS - Asia 341
SA - Sud America 2
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 1.798
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Nazione #
US - Stati Uniti d'America 883
IE - Irlanda 323
CN - Cina 292
IT - Italia 73
DE - Germania 46
FI - Finlandia 46
SG - Singapore 30
SE - Svezia 25
BE - Belgio 12
GB - Regno Unito 9
CA - Canada 6
UA - Ucraina 6
CH - Svizzera 5
IN - India 5
AZ - Azerbaigian 4
AE - Emirati Arabi Uniti 3
CZ - Repubblica Ceca 3
ES - Italia 3
JP - Giappone 3
RU - Federazione Russa 3
FR - Francia 2
RO - Romania 2
BO - Bolivia 1
CL - Cile 1
DK - Danimarca 1
EE - Estonia 1
EU - Europa 1
HR - Croazia 1
IL - Israele 1
IR - Iran 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LV - Lettonia 1
NZ - Nuova Zelanda 1
PL - Polonia 1
PT - Portogallo 1
Totale 1.798
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Città #
Dublin 323
Chandler 173
Boardman 93
Ashburn 70
Nanjing 58
New York 52
Beijing 46
Helsinki 43
Lawrence 38
Medford 38
Princeton 38
Wilmington 35
Ann Arbor 34
Shanghai 29
Shenyang 27
Nanchang 26
Jacksonville 24
Singapore 19
Jiaxing 18
Seattle 16
Pavia 14
Hebei 13
Los Angeles 13
Brussels 12
Changsha 12
Tianjin 10
Falls Church 9
Hangzhou 9
Milan 7
Norwalk 7
Dallas 6
Guangzhou 6
Woodbridge 6
Chicago 5
Baku 4
Florence 4
Ottawa 4
Pune 4
Washington 4
Zurich 4
Castelraimondo 3
Dubai 3
Jinan 3
London 3
Munich 3
Piscataway 3
Redwood City 3
Tokyo 3
Baoding 2
Berlin 2
Brno 2
Fairfield 2
Houston 2
Las Vegas 2
Maddaloni 2
Madrid 2
Moscow 2
Newark 2
Ningbo 2
Pognana Lario 2
San Francisco 2
Springfield 2
Toronto 2
Turin 2
Tübingen 2
Verolanuova 2
Wenden 2
Zhengzhou 2
Absecon 1
Biella 1
Borås 1
Changchun 1
Des Moines 1
Forest City 1
Frankfurt am Main 1
Fredensborg 1
Fremont 1
Handan 1
Harbin 1
Hefei 1
Heidelberg 1
Hengyang 1
Irpin 1
Jiaozuo 1
Kunming 1
La Paz 1
Lausanne 1
Leawood 1
Lisbon 1
Lod 1
Longyan 1
Ludwigshafen am Rhein 1
Meizhou 1
Moncalieri 1
New Delhi 1
Olomouc 1
Padova 1
Rockville 1
Seoul 1
Shijiazhuang 1
Totale 1.449
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Nome #
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 92
Patologia ereditaria da gain of function 89
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. 65
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 59
A Data Fusion Approach to Enhance Association Study in Epilepsy 57
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis 55
A genome-wide association study of myasthenia gravis 54
Discovering a familial Xp11.4 microduplication: Does the mother matter? 52
Ex vivo-expanded bone marrow CD34(+) for acute myocardial infarction treatment: in vitro and in vivo studies 51
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 48
Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant 48
Confini e medicina di precisione in coppie consanguinee di migranti: la ricezione della consulenza genetica successiva all'identificazione di patologie fetali 47
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations 46
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) 45
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 44
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients 43
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant 43
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23) 43
TBK1 is associated with ALS and ALS-FTD in Sardinian patients. 41
Myogenic potential of whole bone marrow mesenchymal stem cells in vitro and in vivo for usage in urinary incontinence 40
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 40
Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers? 39
Mitochondrial DNA variations in tumours: Drivers or passengers? 39
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome 38
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding 37
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 36
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome 36
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 34
Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21 34
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies 33
De novo unbalanced translocations have a complex history/aetiology 33
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis 29
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 29
Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes 27
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception? 27
Movement disorders in a family carrying ATP7A variant 25
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 23
Chromothripsis: evolution of de novo small supernumerary marker chromosomes from trisomies 21
Chromothriptic events in healthy people: pay attention to "innocent" insertional translocations 21
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis 20
Non-response to vaccines: still an enigma? B-cell transcription factor POU2F2/OCT2 is a potential candidate 19
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage 17
Ex vivo expanded bone marrow CD34+ for acute myocardial infarction treatment: in vitro and in vivo studies 17
Commentary on “Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis” 17
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: the relevance of neuroimaging findings 16
SCN2A and arrhythmia: A potential correlation? A case report and literature review 15
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders 15
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 14
Potential and immuno-modulant proprieties of mesenchymal stem cells from amniotic fluid 13
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum’s disease A pilot study 13
MESENCHYMAL STEM CELLS EXPANSION BY PLATING WHOLE BONE MARROW AT LOW CELLULAR DENSITY: A MORE ADVANTAGEOUS METHOD FOR CLINICAL USE 11
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 11
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements 10
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 9
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 8
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants 6
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 6
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 4
Totale 1.904
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Categoria #
all - tutte 10.547
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 10.547
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202077 0 0 0 0 1 1 1 3 2 5 64 0
2020/202180 5 4 2 2 2 19 1 16 14 7 6 2
2021/2022196 5 3 2 5 7 13 4 10 16 4 23 104
2022/2023723 76 53 12 28 32 53 46 31 350 8 24 10
2023/2024403 35 66 13 20 20 106 14 30 5 13 33 48
2024/2025145 23 73 32 13 4 0 0 0 0 0 0 0
Totale 1.904