IRIS
MENCARELLI, MARIA ANTONIETTA
 Distribuzione geografica
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Continente #
EU - Europa 5.777
NA - Nord America 5.710
AS - Asia 2.367
SA - Sud America 401
AF - Africa 128
OC - Oceania 18
Continente sconosciuto - Info sul continente non disponibili 8
Totale 14.409
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Nazione #
US - Stati Uniti d'America 5.625
IT - Italia 1.385
RU - Federazione Russa 1.133
GB - Regno Unito 949
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 104
NL - Olanda 88
KR - Corea 82
IN - India 70
ZA - Sudafrica 63
CA - Canada 45
ES - Italia 45
BE - Belgio 40
PL - Polonia 40
TR - Turchia 38
JP - Giappone 36
CZ - Repubblica Ceca 27
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 14
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
RO - Romania 4
TN - Tunisia 4
UY - Uruguay 4
AE - Emirati Arabi Uniti 3
CY - Cipro 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
AM - Armenia 2
AZ - Azerbaigian 2
BA - Bosnia-Erzegovina 2
CR - Costa Rica 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
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 14.399
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Città #
Dallas 978
Southend 785
Dublin 507
Ashburn 463
Fairfield 435
Singapore 384
Moscow 349
Milan 302
Chandler 299
Munich 296
San Jose 233
Santa Clara 230
Hong Kong 215
Beijing 209
Seattle 202
Woodbridge 200
Siena 193
Ann Arbor 183
Houston 176
Helsinki 171
Menlo Park 169
Wilmington 154
Council Bluffs 144
Cambridge 142
Jacksonville 137
Los Angeles 122
Hefei 116
Ho Chi Minh City 93
New York 93
Dearborn 80
Seoul 78
Hanoi 76
Rome 76
Princeton 70
Florence 62
Johannesburg 62
Lauterbourg 55
Nanjing 46
Boardman 44
The Dalles 39
Turku 39
Shanghai 38
Buffalo 35
Brescia 31
Tokyo 31
Warsaw 30
Dong Ket 29
San Diego 29
Brussels 28
Lancaster 28
Chicago 25
San Mateo 25
São Paulo 25
London 22
Naples 22
Nuremberg 21
Málaga 20
Washington 20
Orem 19
Brno 18
Columbus 18
Frankfurt am Main 18
Abidjan 17
Denver 17
Phoenix 17
Haiphong 16
Paris 16
Stockholm 16
Bengaluru 14
Redondo Beach 14
Düsseldorf 13
Nanchang 13
Toronto 13
Zhengzhou 13
Abuja 12
Ankara 12
Brooklyn 12
Figino 12
Guangzhou 12
Izmir 12
Norwalk 12
Rio de Janeiro 12
Waanrode 12
Aachen 11
Boston 11
Chennai 11
Da Nang 11
Montreal 11
Shenyang 11
Tashkent 11
Comun Nuovo 10
Hải Dương 10
Lappeenranta 10
Mexico City 10
Portsmouth 10
Brasília 9
Jinan 9
Kunming 9
Quito 9
Tianjin 9
Totale 9.698
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Nome #
A first update on mapping the human genetic architecture of COVID-19 589
Association of toll-like receptor 7 variants with life-threatening COVID-19 disease in males: Findings from a nested case-control study 505
Genetic mechanisms of critical illness in COVID-19 434
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males 426
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 409
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 392
An explainable model of host genetic interactions linked to COVID-19 severity 375
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 373
Pathogen-sugar interactions revealed by universal saturation transfer analysis 363
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 354
Listeria meningoencephalitis and anti-GQ1b antibody syndrome 349
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 342
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 339
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 335
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 332
Alport syndrome: impact of digenic inheritance in patients management 322
null 320
Endothelin-1 and endothelin-converting enzyme-1 in human granulomatous pathology of eyelid: an immunohistochemical and in situ hybridization study in chalazia 319
Genomic differences between retinoma and retinoblastoma 318
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research 317
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 314
Epilepsy in Rett syndrome - Lessons from the Rett networked database 309
Evidence of digenic inheritance in Alport syndrome 306
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 299
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 297
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy 296
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 295
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 264
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 251
Non-collagen genes role in digenic Alport syndrome 246
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor 231
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 228
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA 227
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 217
AUTS2-related syndrome: Insights from a large European cohort 216
WES profiling of COVID-19 213
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant 205
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 194
null 182
Regulatory variants of FOXG1 in the context of its topological domain organisation 181
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 174
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 168
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 158
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 152
Novel retinal finding in a patient with 4q12 deletion 144
null 140
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures 138
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 138
null 128
null 123
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 118
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 116
The autoinflammatory diseases alliance registry of monogenic autoinflammatory diseases 97
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder 91
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 86
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse 84
Recurrent duplications of 17q12 associated with variable phenotypes 80
Mapping the human genetic architecture of COVID-19 13
Totale 14.632
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Categoria #
all - tutte 42.826
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 42.826
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20265.601 333 742 788 696 1.039 215 624 169 189 271 206 329
2026/202767 67 0 0 0 0 0 0 0 0 0 0 0
Totale 14.632