IRIS
ERRICHIELLO, EDOARDO
 Distribuzione geografica
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Continente #
NA - Nord America 1.436
EU - Europa 1.085
AS - Asia 1.080
SA - Sud America 191
AF - Africa 13
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.808
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Nazione #
US - Stati Uniti d'America 1.401
CN - Cina 484
IE - Irlanda 324
SG - Singapore 261
DE - Germania 195
HK - Hong Kong 174
BR - Brasile 153
RU - Federazione Russa 139
FI - Finlandia 134
IT - Italia 118
VN - Vietnam 60
GB - Regno Unito 40
SE - Svezia 34
IN - India 29
CA - Canada 23
AR - Argentina 17
BE - Belgio 12
PL - Polonia 12
AT - Austria 11
BD - Bangladesh 11
ES - Italia 11
JP - Giappone 11
EC - Ecuador 8
FR - Francia 8
MX - Messico 8
TR - Turchia 8
UA - Ucraina 8
NL - Olanda 7
AZ - Azerbaigian 6
IQ - Iraq 6
CH - Svizzera 5
ZA - Sudafrica 5
AE - Emirati Arabi Uniti 4
CZ - Repubblica Ceca 4
LT - Lituania 4
PT - Portogallo 4
SA - Arabia Saudita 4
CL - Cile 3
MA - Marocco 3
PE - Perù 3
RO - Romania 3
CR - Costa Rica 2
DK - Danimarca 2
EG - Egitto 2
GR - Grecia 2
IL - Israele 2
KG - Kirghizistan 2
KR - Corea 2
LB - Libano 2
LV - Lettonia 2
PK - Pakistan 2
PY - Paraguay 2
TH - Thailandia 2
TN - Tunisia 2
UY - Uruguay 2
AL - Albania 1
BO - Bolivia 1
CO - Colombia 1
EE - Estonia 1
EU - Europa 1
HR - Croazia 1
ID - Indonesia 1
IR - Iran 1
JO - Giordania 1
KE - Kenya 1
KH - Cambogia 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
MD - Moldavia 1
NI - Nicaragua 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PH - Filippine 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TM - Turkmenistan 1
TO - Tonga 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 3.808
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Città #
Dublin 324
Chandler 173
Hong Kong 172
Ashburn 144
Dallas 137
Beijing 136
Munich 127
Singapore 127
Boardman 93
Helsinki 93
New York 69
Nanjing 58
Los Angeles 48
Lawrence 38
Medford 38
Princeton 38
Wilmington 35
Ann Arbor 34
Turku 32
Shanghai 31
Shenyang 27
Nanchang 26
Moscow 25
Redondo Beach 25
Jacksonville 24
Ho Chi Minh City 23
Buffalo 19
Jiaxing 18
Pavia 18
São Paulo 18
Seattle 16
The Dalles 16
Changsha 13
Hebei 13
Brussels 12
Cagliari 12
Hanoi 11
Milan 11
Montreal 11
Nuremberg 11
Tianjin 11
Tokyo 11
Columbus 10
Warsaw 10
Chicago 9
Falls Church 9
Hangzhou 9
Houston 9
London 9
Stockholm 9
Falkenstein 8
Guangzhou 8
Rio de Janeiro 8
Brooklyn 7
Denver 7
Norwalk 7
Telgate 7
Chennai 6
Haiphong 6
Phoenix 6
Poplar 6
Rome 6
San Francisco 6
Woodbridge 6
Ankara 5
Baku 5
Goiânia 5
Mexico City 5
Orem 5
Pune 5
Boston 4
Charlotte 4
Florence 4
Frankfurt am Main 4
Guayaquil 4
Jinan 4
Johannesburg 4
Jyväskylä 4
Lisbon 4
Ottawa 4
Santa Clara 4
Suzhou 4
Toronto 4
Vienna 4
Washington 4
Zurich 4
Amsterdam 3
Atlanta 3
Baghdad 3
Baoding 3
Biên Hòa 3
Castelraimondo 3
Dhaka 3
Dubai 3
Fortaleza 3
Harbin 3
Mirassol 3
Mumbai 3
New Delhi 3
Newark 3
Totale 2.622
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Nome #
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 249
A Data Fusion Approach to Enhance Association Study in Epilepsy 130
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 127
Patologia ereditaria da gain of function 121
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 104
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis 103
Confini e medicina di precisione in coppie consanguinee di migranti: la ricezione della consulenza genetica successiva all'identificazione di patologie fetali 99
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 95
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 95
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 88
Ex vivo-expanded bone marrow CD34(+) for acute myocardial infarction treatment: in vitro and in vivo studies 88
Discovering a familial Xp11.4 microduplication: Does the mother matter? 86
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 84
Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21 84
A genome-wide association study of myasthenia gravis 83
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. 83
Mitochondrial DNA variations in tumours: Drivers or passengers? 80
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23) 77
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 76
Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers? 75
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) 73
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 72
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 72
De novo unbalanced translocations have a complex history/aetiology 72
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients 70
Myogenic potential of whole bone marrow mesenchymal stem cells in vitro and in vivo for usage in urinary incontinence 69
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 69
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome 68
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding 66
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage 63
Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes 61
Movement disorders in a family carrying ATP7A variant 60
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant 58
Chromothripsis: evolution of de novo small supernumerary marker chromosomes from trisomies 56
TBK1 is associated with ALS and ALS-FTD in Sardinian patients. 55
Commentary on “Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis” 54
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome 54
Chromothriptic events in healthy people: pay attention to "innocent" insertional translocations 53
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception? 51
Non-response to vaccines: still an enigma? B-cell transcription factor POU2F2/OCT2 is a potential candidate 50
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 49
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders 48
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 42
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis 42
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis 42
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 40
SCN2A and arrhythmia: A potential correlation? A case report and literature review 37
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: the relevance of neuroimaging findings 36
Ex vivo expanded bone marrow CD34+ for acute myocardial infarction treatment: in vitro and in vivo studies 36
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements 35
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 34
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 33
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum’s disease A pilot study 33
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 30
Potential and immuno-modulant proprieties of mesenchymal stem cells from amniotic fluid 30
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants 29
MESENCHYMAL STEM CELLS EXPANSION BY PLATING WHOLE BONE MARROW AT LOW CELLULAR DENSITY: A MORE ADVANTAGEOUS METHOD FOR CLINICAL USE 25
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 12
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 9
null 8
Totale 3.923
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Categoria #
all - tutte 19.108
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 19.108
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202165 0 0 0 0 0 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
2024/20251.006 23 73 32 13 13 83 103 83 238 39 115 191
2025/20261.158 169 158 244 267 246 74 0 0 0 0 0 0
Totale 3.923