IRIS
MENCARELLI, MARIA ANTONIETTA
 Distribuzione geografica
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Continente #
NA - Nord America 5.580
EU - Europa 5.525
AS - Asia 2.345
SA - Sud America 400
AF - Africa 128
OC - Oceania 18
Continente sconosciuto - Info sul continente non disponibili 8
Totale 14.004
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Nazione #
US - Stati Uniti d'America 5.502
IT - Italia 1.145
RU - Federazione Russa 1.133
GB - Regno Unito 944
CN - Cina 706
SG - Singapore 637
DE - Germania 552
IE - Irlanda 519
VN - Vietnam 332
BR - Brasile 329
FI - Finlandia 260
SE - Svezia 247
FR - Francia 234
HK - Hong Kong 226
UA - Ucraina 173
BD - Bangladesh 83
NL - Olanda 83
KR - Corea 82
IN - India 70
ZA - Sudafrica 63
ES - Italia 45
BE - Belgio 40
PL - Polonia 40
CA - Canada 39
TR - Turchia 38
JP - Giappone 36
CZ - Repubblica Ceca 26
MX - Messico 26
AR - Argentina 25
IQ - Iraq 21
AT - Austria 17
CI - Costa d'Avorio 17
AU - Australia 16
IR - Iran 15
EC - Ecuador 13
NG - Nigeria 13
PK - Pakistan 12
CH - Svizzera 11
ID - Indonesia 11
SA - Arabia Saudita 11
UZ - Uzbekistan 11
LT - Lituania 10
VE - Venezuela 9
AL - Albania 8
CO - Colombia 8
MY - Malesia 8
EG - Egitto 7
EU - Europa 6
KE - Kenya 6
MA - Marocco 6
HU - Ungheria 5
IL - Israele 5
JO - Giordania 5
CL - Cile 4
DZ - Algeria 4
HR - Croazia 4
NO - Norvegia 4
PE - Perù 4
TN - Tunisia 4
UY - Uruguay 4
AE - Emirati Arabi Uniti 3
DK - Danimarca 3
ET - Etiopia 3
HN - Honduras 3
KG - Kirghizistan 3
KZ - Kazakistan 3
LV - Lettonia 3
MD - Moldavia 3
PH - Filippine 3
PS - Palestinian Territory 3
PT - Portogallo 3
PY - Paraguay 3
RO - Romania 3
AM - Armenia 2
AZ - Azerbaigian 2
BA - Bosnia-Erzegovina 2
CY - Cipro 2
EE - Estonia 2
GE - Georgia 2
JM - Giamaica 2
LB - Libano 2
LK - Sri Lanka 2
PA - Panama 2
QA - Qatar 2
SN - Senegal 2
TM - Turkmenistan 2
XK - ???statistics.table.value.countryCode.XK??? 2
AO - Angola 1
BG - Bulgaria 1
BO - Bolivia 1
BY - Bielorussia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
FJ - Figi 1
GA - Gabon 1
GR - Grecia 1
KH - Cambogia 1
LA - Repubblica Popolare Democratica del Laos 1
ME - Montenegro 1
MS - Montserrat 1
Totale 13.994
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Città #
Dallas 976
Southend 785
Dublin 507
Ashburn 455
Fairfield 435
Singapore 384
Moscow 349
Chandler 299
Munich 296
Santa Clara 221
Hong Kong 215
Beijing 209
San Jose 202
Seattle 202
Woodbridge 200
Siena 193
Ann Arbor 183
Houston 174
Helsinki 171
Menlo Park 169
Milan 164
Wilmington 154
Cambridge 142
Jacksonville 136
Los Angeles 119
Hefei 116
Council Bluffs 111
Ho Chi Minh City 93
New York 93
Dearborn 80
Seoul 78
Hanoi 76
Princeton 70
Johannesburg 62
Florence 60
Lauterbourg 55
Nanjing 46
Rome 46
Boardman 44
The Dalles 39
Turku 39
Shanghai 38
Buffalo 34
Tokyo 31
Brescia 30
Warsaw 30
Dong Ket 29
San Diego 29
Brussels 28
Lancaster 28
San Mateo 25
São Paulo 25
Chicago 24
London 22
Nuremberg 21
Málaga 20
Washington 20
Orem 19
Frankfurt am Main 18
Abidjan 17
Brno 17
Columbus 17
Denver 17
Naples 17
Haiphong 16
Paris 16
Phoenix 16
Stockholm 16
Bengaluru 14
Redondo Beach 14
Düsseldorf 13
Nanchang 13
Zhengzhou 13
Abuja 12
Ankara 12
Guangzhou 12
Izmir 12
Norwalk 12
Rio de Janeiro 12
Waanrode 12
Aachen 11
Boston 11
Brooklyn 11
Chennai 11
Da Nang 11
Montreal 11
Shenyang 11
Tashkent 11
Toronto 11
Comun Nuovo 10
Hải Dương 10
Lappeenranta 10
Mexico City 10
Portsmouth 10
Brasília 9
Jinan 9
Kunming 9
Tianjin 9
Bari 8
Bergamo 8
Totale 9.420
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Nome #
A first update on mapping the human genetic architecture of COVID-19 579
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 503
Genetic mechanisms of critical illness in COVID-19 425
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 410
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 407
An explainable model of host genetic interactions linked to COVID-19 severity 368
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 364
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 349
Pathogen-sugar interactions revealed by universal saturation transfer analysis 347
Listeria meningoencephalitis and anti-GQ1b antibody syndrome 343
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 343
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 333
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears 332
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 330
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 329
null 320
Endothelin-1 and endothelin-converting enzyme-1 in human granulomatous pathology of eyelid: an immunohistochemical and in situ hybridization study in chalazia 314
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 314
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 313
Alport syndrome: impact of digenic inheritance in patients management 308
Evidence of digenic inheritance in Alport syndrome 302
Epilepsy in Rett syndrome - Lessons from the Rett networked database 302
Genomic differences between retinoma and retinoblastoma 301
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 298
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 289
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 284
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy 283
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 253
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 249
Non-collagen genes role in digenic Alport syndrome 236
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor 223
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA 221
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 219
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 216
AUTS2-related syndrome: Insights from a large European cohort 206
WES profiling of COVID-19 204
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant 202
null 182
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 180
Regulatory variants of FOXG1 in the context of its topological domain organisation 174
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 169
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 166
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 148
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 142
Novel retinal finding in a patient with 4q12 deletion 142
null 140
Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF- α Receptor - Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network 135
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 129
null 128
null 123
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 115
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 107
The autoinflammatory diseases alliance registry of monogenic autoinflammatory diseases 91
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 85
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse 83
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder 82
Recurrent duplications of 17q12 associated with variable phenotypes 79
Mapping the human genetic architecture of COVID-19 8
Totale 14.227
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Categoria #
all - tutte 41.525
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 41.525
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021180 0 0 0 0 0 0 0 0 0 0 95 85
2021/2022779 72 92 40 66 28 23 44 39 33 81 92 169
2022/20231.169 59 118 109 120 104 211 75 128 104 46 55 40
2023/20241.037 46 42 128 80 46 233 290 38 7 28 37 62
2024/20252.352 96 98 242 131 247 172 252 171 218 85 223 417
2025/20265.263 333 742 788 696 1.039 215 624 169 189 271 197 0
Totale 14.227