IRIS
MENCARELLI, MARIA ANTONIETTA
 Distribuzione geografica
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Continente #
EU - Europa 5.203
NA - Nord America 4.986
AS - Asia 1.780
SA - Sud America 339
AF - Africa 39
OC - Oceania 16
Continente sconosciuto - Info sul continente non disponibili 8
Totale 12.371
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Nazione #
US - Stati Uniti d'America 4.933
RU - Federazione Russa 1.132
IT - Italia 1.004
GB - Regno Unito 918
CN - Cina 657
SG - Singapore 560
DE - Germania 542
IE - Irlanda 516
BR - Brasile 289
SE - Svezia 246
FI - Finlandia 239
HK - Hong Kong 174
UA - Ucraina 170
FR - Francia 168
VN - Vietnam 92
KR - Corea 82
NL - Olanda 69
IN - India 45
BE - Belgio 40
ES - Italia 37
PL - Polonia 32
TR - Turchia 32
CA - Canada 27
JP - Giappone 26
CZ - Repubblica Ceca 25
MX - Messico 21
AR - Argentina 20
BD - Bangladesh 17
CI - Costa d'Avorio 17
AT - Austria 15
AU - Australia 15
IR - Iran 15
IQ - Iraq 14
LT - Lituania 10
PK - Pakistan 10
EC - Ecuador 9
CH - Svizzera 7
ID - Indonesia 7
UZ - Uzbekistan 7
AL - Albania 6
EU - Europa 6
SA - Arabia Saudita 6
CO - Colombia 5
VE - Venezuela 5
MA - Marocco 4
NO - Norvegia 4
UY - Uruguay 4
ZA - Sudafrica 4
AE - Emirati Arabi Uniti 3
CL - Cile 3
EG - Egitto 3
HR - Croazia 3
HU - Ungheria 3
IL - Israele 3
KE - Kenya 3
LV - Lettonia 3
MY - Malesia 3
PE - Perù 3
AM - Armenia 2
AZ - Azerbaigian 2
BA - Bosnia-Erzegovina 2
CY - Cipro 2
DK - Danimarca 2
DZ - Algeria 2
EE - Estonia 2
GE - Georgia 2
JO - Giordania 2
KZ - Kazakistan 2
LB - Libano 2
LK - Sri Lanka 2
PH - Filippine 2
PS - Palestinian Territory 2
PT - Portogallo 2
RO - Romania 2
TM - Turkmenistan 2
TN - Tunisia 2
XK - ???statistics.table.value.countryCode.XK??? 2
BG - Bulgaria 1
BY - Bielorussia 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GA - Gabon 1
GR - Grecia 1
JM - Giamaica 1
KG - Kirghizistan 1
KH - Cambogia 1
ME - Montenegro 1
MS - Montserrat 1
NE - Niger 1
NP - Nepal 1
NR - Nauru 1
PA - Panama 1
PR - Porto Rico 1
PY - Paraguay 1
QA - Qatar 1
SN - Senegal 1
YE - Yemen 1
Totale 12.371
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Città #
Dallas 972
Southend 785
Dublin 505
Fairfield 435
Ashburn 410
Moscow 349
Singapore 342
Chandler 299
Munich 296
Santa Clara 213
Beijing 209
Seattle 200
Woodbridge 200
Siena 193
Ann Arbor 183
Houston 173
Hong Kong 171
Menlo Park 169
Wilmington 154
Helsinki 152
Milan 147
Cambridge 142
Jacksonville 136
Hefei 103
Los Angeles 81
Dearborn 80
Seoul 78
New York 72
Princeton 70
Florence 59
Nanjing 46
Boardman 44
Rome 39
Turku 39
Council Bluffs 35
Shanghai 34
Brescia 30
Dong Ket 29
San Diego 29
Brussels 28
Lancaster 28
Buffalo 27
San Mateo 25
Tokyo 25
Warsaw 24
Chicago 22
São Paulo 22
The Dalles 22
Nuremberg 21
Ho Chi Minh City 20
Málaga 20
Washington 19
Abidjan 17
Brno 17
Columbus 16
Denver 16
Hanoi 16
London 16
Phoenix 15
Stockholm 15
Redondo Beach 14
Bengaluru 13
Düsseldorf 13
Nanchang 13
Naples 13
Zhengzhou 13
Izmir 12
Norwalk 12
Waanrode 12
Aachen 11
Ankara 11
Frankfurt am Main 11
Guangzhou 11
Paris 11
Rio de Janeiro 11
Shenyang 11
Comun Nuovo 10
Lauterbourg 10
Portsmouth 10
Brasília 9
Brooklyn 9
Jinan 9
Kunming 9
Tianjin 9
Toronto 9
Boston 8
Changsha 8
Hebei 8
Lappeenranta 8
Amsterdam 7
Fremont 7
Jyväskylä 7
Mexico City 7
Perth 7
Tashkent 7
Anagni 6
Espoo 6
Hyderabad 6
Livorno 6
Olomouc 6
Totale 8.514
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Nome #
A first update on mapping the human genetic architecture of COVID-19 537
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 454
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 395
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 333
Listeria meningoencephalitis and anti-GQ1b antibody syndrome 332
Genetic mechanisms of critical illness in COVID-19 332
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 328
An explainable model of host genetic interactions linked to COVID-19 severity 324
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 313
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 311
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 310
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 303
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 296
Endothelin-1 and endothelin-converting enzyme-1 in human granulomatous pathology of eyelid: an immunohistochemical and in situ hybridization study in chalazia 286
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 286
Genomic differences between retinoma and retinoblastoma 283
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 283
Alport syndrome: impact of digenic inheritance in patients management 281
Epilepsy in Rett syndrome - Lessons from the Rett networked database 279
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 278
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 275
Pathogen-sugar interactions revealed by universal saturation transfer analysis 269
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 268
Evidence of digenic inheritance in Alport syndrome 267
Mapping the human genetic architecture of COVID-19 262
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 258
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy 255
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 232
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 227
Non-collagen genes role in digenic Alport syndrome 223
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor 207
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 201
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA 199
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant 188
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 188
null 182
WES profiling of COVID-19 182
Regulatory variants of FOXG1 in the context of its topological domain organisation 163
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 147
null 140
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 132
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 129
null 128
AUTS2-related syndrome: Insights from a large European cohort 123
null 123
Novel retinal finding in a patient with 4q12 deletion 118
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 114
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 114
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 109
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 104
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 99
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 96
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 74
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse 69
The autoinflammatory diseases alliance registry of monogenic autoinflammatory diseases 68
Recurrent duplications of 17q12 associated with variable phenotypes 62
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder 55
Totale 12.594
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Categoria #
all - tutte 37.907
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 37.907
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021720 0 0 0 0 0 84 61 109 90 196 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
2025/20263.630 333 742 788 696 1.039 32 0 0 0 0 0 0
Totale 12.594