IRIS
ERRICHIELLO, EDOARDO
 Distribuzione geografica
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Continente #
NA - Nord America 1.924
AS - Asia 1.471
EU - Europa 1.205
SA - Sud America 234
Continente sconosciuto - Info sul continente non disponibili 126
AF - Africa 48
OC - Oceania 2
Totale 5.010
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Nazione #
US - Stati Uniti d'America 1.868
CN - Cina 553
SG - Singapore 396
IE - Irlanda 324
DE - Germania 201
HK - Hong Kong 201
BR - Brasile 170
IT - Italia 144
RU - Federazione Russa 144
VN - Vietnam 138
FI - Finlandia 136
FR - Francia 66
IN - India 47
GB - Regno Unito 46
SE - Svezia 35
CA - Canada 29
AR - Argentina 28
BD - Bangladesh 25
ZA - Sudafrica 24
JP - Giappone 18
IQ - Iraq 15
PL - Polonia 15
MX - Messico 14
BE - Belgio 13
TR - Turchia 13
EC - Ecuador 12
ES - Italia 12
AT - Austria 11
NL - Olanda 9
MA - Marocco 8
UA - Ucraina 8
PH - Filippine 7
SA - Arabia Saudita 7
AZ - Azerbaigian 6
TN - Tunisia 6
CH - Svizzera 5
CO - Colombia 5
CR - Costa Rica 5
CZ - Repubblica Ceca 5
LT - Lituania 5
MY - Malesia 5
PE - Perù 5
PK - Pakistan 5
PT - Portogallo 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
CL - Cile 4
EG - Egitto 4
RO - Romania 4
VE - Venezuela 4
ID - Indonesia 3
LB - Libano 3
LV - Lettonia 3
PY - Paraguay 3
DK - Danimarca 2
GR - Grecia 2
HN - Honduras 2
IL - Israele 2
KG - Kirghizistan 2
KR - Corea 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
NP - Nepal 2
RS - Serbia 2
SN - Senegal 2
TH - Thailandia 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
AG - Antigua e Barbuda 1
AL - Albania 1
BO - Bolivia 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
EU - Europa 1
GE - Georgia 1
GT - Guatemala 1
HR - Croazia 1
HU - Ungheria 1
IR - Iran 1
JO - Giordania 1
KE - Kenya 1
KH - Cambogia 1
LC - Santa Lucia 1
MD - Moldavia 1
MT - Malta 1
NG - Nigeria 1
NI - Nicaragua 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TM - Turkmenistan 1
TO - Tonga 1
Totale 4.887
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Città #
Dublin 324
Singapore 216
San Jose 210
Ashburn 200
Hong Kong 195
Chandler 173
Beijing 150
Dallas 141
Munich 127
Helsinki 95
Boardman 94
Council Bluffs 79
New York 75
Nanjing 58
Ho Chi Minh City 56
Los Angeles 55
Lauterbourg 53
Lawrence 38
Medford 38
Princeton 38
Wilmington 35
Ann Arbor 34
Turku 32
Shanghai 31
Shenyang 27
Hanoi 26
Moscow 26
Nanchang 26
Redondo Beach 25
Jacksonville 24
São Paulo 22
Columbus 21
Johannesburg 20
Santa Clara 20
Buffalo 19
Pavia 19
Jiaxing 18
Seattle 18
The Dalles 16
Tokyo 16
Changsha 13
Hebei 13
Milan 13
Montreal 13
Brussels 12
Cagliari 12
Nuremberg 12
Orem 12
Chicago 11
Tianjin 11
Chennai 10
Houston 10
Mexico City 10
Stockholm 10
Warsaw 10
Falls Church 9
Guangzhou 9
Hangzhou 9
London 9
Rio de Janeiro 9
Brooklyn 8
Falkenstein 8
Haiphong 8
Denver 7
Frankfurt am Main 7
Norwalk 7
Rome 7
Telgate 7
Ankara 6
Baghdad 6
Dhaka 6
Phoenix 6
Poplar 6
San Francisco 6
Woodbridge 6
Baku 5
Biên Hòa 5
Casablanca 5
Goiânia 5
Guayaquil 5
Mumbai 5
Piscataway 5
Pune 5
San José 5
Tashkent 5
Amsterdam 4
Atlanta 4
Boston 4
Charlotte 4
Florence 4
Jinan 4
Jyväskylä 4
Kuala Lumpur 4
Las Vegas 4
Lisbon 4
Ninh Bình 4
Ottawa 4
Quito 4
Suzhou 4
Toronto 4
Totale 3.318
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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 273
A Data Fusion Approach to Enhance Association Study in Epilepsy 153
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 151
Patologia ereditaria da gain of function 143
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset 122
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 122
Confini e medicina di precisione in coppie consanguinee di migranti: la ricezione della consulenza genetica successiva all'identificazione di patologie fetali 118
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis 118
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 117
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 114
A genome-wide association study of myasthenia gravis 112
Discovering a familial Xp11.4 microduplication: Does the mother matter? 112
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 106
Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21 106
Ex vivo-expanded bone marrow CD34(+) for acute myocardial infarction treatment: in vitro and in vivo studies 104
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract 96
Mitochondrial DNA variations in tumours: Drivers or passengers? 94
Oxidative DNA damage drives carcinogenesis in MUTYH-associated-polyposis by specific mutations of mitochondrial and MAPK genes. 94
De novo unbalanced translocations have a complex history/aetiology 94
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23) 94
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) 90
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells 90
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage 87
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 87
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome 87
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding 87
Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers? 86
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients 81
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 80
Myogenic potential of whole bone marrow mesenchymal stem cells in vitro and in vivo for usage in urinary incontinence 78
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome 76
Commentary on “Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis” 75
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant 75
Chromothriptic events in healthy people: pay attention to "innocent" insertional translocations 72
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception? 72
Movement disorders in a family carrying ATP7A variant 71
Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes 71
TBK1 is associated with ALS and ALS-FTD in Sardinian patients. 71
Chromothripsis: evolution of de novo small supernumerary marker chromosomes from trisomies 70
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders 65
Non-response to vaccines: still an enigma? B-cell transcription factor POU2F2/OCT2 is a potential candidate 60
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 60
Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis 59
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 58
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 55
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 55
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: the relevance of neuroimaging findings 52
SCN2A and arrhythmia: A potential correlation? A case report and literature review 52
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis 52
Ex vivo expanded bone marrow CD34+ for acute myocardial infarction treatment: in vitro and in vivo studies 49
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants 48
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements 48
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 45
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 45
Transcutaneous electrical stimulation therapy and genetic analysis in Dercum’s disease A pilot study 40
Potential and immuno-modulant proprieties of mesenchymal stem cells from amniotic fluid 39
MESENCHYMAL STEM CELLS EXPANSION BY PLATING WHOLE BONE MARROW AT LOW CELLULAR DENSITY: A MORE ADVANTAGEOUS METHOD FOR CLINICAL USE 38
Mitochondrial DNA analysis in a cohort of stillbirths with brainstem and cardiac conduction system abnormalities 30
Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype 23
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 21
CTLA4 Alteration and Neurologic Manifestations: A New Family with Large Phenotypic Variability and Literature Review 20
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain 14
Large familial chromosomal duplications without apparent disease phenotypes: how to deal with them in prenatal diagnosis? 12
null 8
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights 6
PUS7 Deficiency: Phenotypical Expansion of PUS7-Related Neurodevelopmental Disorders 5
Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review 2
Totale 5.010
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Categoria #
all - tutte 23.246
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 23.246
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022191 0 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
2025/20262.116 169 158 244 267 246 83 395 98 191 150 69 46
2026/2027129 29 100 0 0 0 0 0 0 0 0 0 0
Totale 5.010