IRIS
MENCARELLI, MARIA ANTONIETTA
 Distribuzione geografica
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Continente #
NA - Nord America 3.081
EU - Europa 2.871
AS - Asia 378
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 6
AF - Africa 2
SA - Sud America 2
Totale 6.347
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Nazione #
US - Stati Uniti d'America 3.068
GB - Regno Unito 871
IT - Italia 557
IE - Irlanda 529
CN - Cina 289
SE - Svezia 233
DE - Germania 197
UA - Ucraina 165
FR - Francia 128
FI - Finlandia 82
BE - Belgio 33
VN - Vietnam 29
ES - Italia 27
NL - Olanda 17
TR - Turchia 16
IN - India 14
RU - Federazione Russa 14
CA - Canada 12
IR - Iran 12
AU - Australia 7
EU - Europa 6
PL - Polonia 5
HK - Hong Kong 4
KR - Corea 3
BA - Bosnia-Erzegovina 2
CH - Svizzera 2
CY - Cipro 2
JP - Giappone 2
MA - Marocco 2
RO - Romania 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AT - Austria 1
BR - Brasile 1
CZ - Repubblica Ceca 1
GR - Grecia 1
IL - Israele 1
KH - Cambogia 1
KZ - Kazakistan 1
LT - Lituania 1
LV - Lettonia 1
MS - Montserrat 1
MY - Malesia 1
PH - Filippine 1
PT - Portogallo 1
SG - Singapore 1
VE - Venezuela 1
Totale 6.347
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Città #
Southend 790
Dublin 519
Fairfield 434
Chandler 299
Ashburn 285
Woodbridge 201
Seattle 198
Ann Arbor 184
Menlo Park 169
Houston 167
Wilmington 157
Siena 155
Cambridge 144
Jacksonville 136
Beijing 97
Dearborn 80
Princeton 69
Helsinki 60
New York 49
Milan 48
Nanjing 45
Florence 39
Boardman 32
Shanghai 32
Dong Ket 29
San Diego 29
Lancaster 26
San Mateo 25
Málaga 22
Rome 22
Brussels 21
Washington 19
Izmir 12
Nanchang 12
Norwalk 12
Waanrode 12
Aachen 11
Los Angeles 11
Naples 11
Shenyang 11
Zhengzhou 11
Brescia 10
Comun Nuovo 10
Kunming 9
Chicago 8
Hebei 8
Hefei 8
Jinan 8
London 8
Tianjin 8
Changsha 7
Fremont 7
Hyderabad 6
Phoenix 6
Sesto Fiorentino 5
Zanjan 5
Bergamo 4
Brindisi 4
Falls Church 4
Fiesole 4
Guangzhou 4
Jiaxing 4
Mestre 4
Ningbo 4
Paris 4
Salerno 4
Toronto 4
Bari 3
Guagnano 3
Melbourne 3
Napoli 3
Poggibonsi 3
Redwood City 3
Somerville 3
Torino 3
Trento 3
Venezia 3
Verona 3
Amsterdam 2
Andover 2
Ansbach 2
Auburn Hills 2
Basel 2
Bihać 2
Canberra 2
Carbonara di Nola 2
Casale 2
Casalecchio di Reno 2
Caserta 2
Certaldo 2
Düsseldorf 2
Gdynia 2
Giugliano in Campania 2
Hong Kong 2
Indore 2
Madrid 2
Markham 2
Medicina 2
Nürnberg 2
Olgiate Olona 2
Totale 4.919
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Nome #
Listeria meningoencephalitis and anti-GQ1b antibody syndrome 254
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 240
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism 213
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 204
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress 200
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome 198
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA. 198
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia 192
Epilepsy in Rett syndrome - Lessons from the Rett networked database 191
Alport syndrome: impact of digenic inheritance in patients management 189
Evidence of digenic inheritance in Alport syndrome 182
null 182
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? 181
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation 179
Genomic differences between retinoma and retinoblastoma. 177
Non-collagen genes role in digenic Alport syndrome 175
Genetic mechanisms of critical illness in COVID-19 171
null 170
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 162
Endothelin-1 and endothelin-converting enzyme-1 in human granulomatous pathology of eyelid: an immunohistochemical and in situ hybridization study in chalazia 158
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age 157
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy 154
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features 153
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 150
null 140
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant 138
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor 136
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA 135
null 128
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients 128
Regulatory variants of FOXG1 in the context of its topological domain organisation 124
null 123
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? 121
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males. 120
null 114
A first update on mapping the human genetic architecture of COVID-19 83
WES profiling of COVID-19 81
null 75
An explainable model of host genetic interactions linked to COVID-19 severity 68
Natural history of KBG syndrome in a large European cohort 59
Novel retinal finding in a patient with 4q12 deletion 45
Whole-genome sequencing reveals host factors underlying critical COVID-19 38
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 38
Private somatic mutations identified with liquid biopsy lead tumor progression in solid cancers 36
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients 32
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome 27
Clinical and molecular characterization of COVID-19 hospitalized patients 26
Recurrent duplications of 17q12 associated with variable phenotypes 26
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology 26
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics 17
Totale 6.514
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Categoria #
all - tutte 20.065
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 20.065
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019357 0 0 0 0 0 0 0 0 0 0 202 155
2019/20201.327 138 49 80 170 103 137 143 148 122 126 37 74
2020/20211.031 38 87 34 89 55 86 61 107 91 200 97 86
2021/2022778 73 92 40 66 29 23 44 40 33 85 94 159
2022/20231.161 59 118 108 123 101 228 68 113 108 46 50 39
2023/2024941 37 34 127 77 46 243 289 32 7 23 26 0
Totale 6.514