CRIS Current Research Information System

MAESTRINI, ELENA
 Distribuzione geografica
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Continente #
NA - Nord America 3.650
EU - Europa 2.821
AS - Asia 2.747
AF - Africa 220
SA - Sud America 147
OC - Oceania 4
Totale 9.589
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Nazione #
US - Stati Uniti d'America 3.611
CN - Cina 860
IT - Italia 849
SG - Singapore 811
GB - Regno Unito 563
VN - Vietnam 436
DE - Germania 321
SE - Svezia 295
HK - Hong Kong 222
IN - India 153
RU - Federazione Russa 116
UA - Ucraina 111
FR - Francia 109
BR - Brasile 103
CI - Costa d'Avorio 97
IE - Irlanda 87
KR - Corea 87
NL - Olanda 71
FI - Finlandia 68
BG - Bulgaria 57
TG - Togo 54
ZA - Sudafrica 48
JO - Giordania 43
EE - Estonia 40
JP - Giappone 37
AT - Austria 26
CA - Canada 26
AR - Argentina 24
ID - Indonesia 20
CH - Svizzera 19
ES - Italia 18
PK - Pakistan 18
PL - Polonia 18
TR - Turchia 15
SC - Seychelles 14
BE - Belgio 11
CZ - Repubblica Ceca 9
LT - Lituania 8
MX - Messico 8
EC - Ecuador 7
IR - Iran 7
LB - Libano 7
CO - Colombia 6
HR - Croazia 6
AE - Emirati Arabi Uniti 5
BD - Bangladesh 5
AU - Australia 4
DK - Danimarca 4
AL - Albania 3
CL - Cile 3
HU - Ungheria 3
IQ - Iraq 3
UZ - Uzbekistan 3
KE - Kenya 2
PA - Panama 2
PE - Perù 2
PS - Palestinian Territory 2
RS - Serbia 2
SA - Arabia Saudita 2
SI - Slovenia 2
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BY - Bielorussia 1
CR - Costa Rica 1
EG - Egitto 1
GE - Georgia 1
GR - Grecia 1
HN - Honduras 1
IL - Israele 1
KH - Cambogia 1
KW - Kuwait 1
LC - Santa Lucia 1
MD - Moldavia 1
MU - Mauritius 1
MY - Malesia 1
NG - Nigeria 1
NP - Nepal 1
OM - Oman 1
PH - Filippine 1
QA - Qatar 1
RO - Romania 1
SN - Senegal 1
TH - Thailandia 1
TN - Tunisia 1
UY - Uruguay 1
VE - Venezuela 1
Totale 9.589
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Città #
Singapore 512
Southend 474
Ashburn 430
Fairfield 351
Bologna 261
Santa Clara 259
Hong Kong 215
Chandler 193
Dong Ket 193
Seattle 185
Hefei 168
Woodbridge 159
Wilmington 147
Houston 135
Cambridge 119
Ann Arbor 118
Dallas 111
Princeton 103
Abidjan 97
Beijing 96
Dublin 87
Seoul 82
Boardman 77
New York 76
Jacksonville 60
Sofia 57
Lomé 54
Berlin 50
Milan 48
Padova 48
Redmond 47
Helsinki 45
Westminster 45
Ho Chi Minh City 44
Amman 43
Nanjing 43
Turin 41
Los Angeles 38
Hanoi 35
Tokyo 35
Tappahannock 32
Buffalo 28
Guangzhou 28
Rome 28
Munich 25
Jinan 24
Redondo Beach 22
Nuremberg 21
Shenyang 20
Bengaluru 19
Boydton 19
Lappeenranta 19
San Diego 19
São Paulo 18
Des Moines 17
Saint Petersburg 17
Stockholm 17
Jakarta 16
Modena 15
Shanghai 15
Bern 14
Falkenstein 14
Naples 14
Phoenix 14
Tianjin 14
Warsaw 14
Florence 13
Frankfurt am Main 13
Mülheim 13
Parma 13
Zhengzhou 13
Chicago 12
Hebei 12
Nanchang 12
Norwalk 12
Verona 12
Vienna 12
Bremen 11
Brooklyn 11
Brussels 11
Council Bluffs 11
Washington 11
Cesena 10
Haiphong 10
Changsha 9
Falls Church 9
Jiaxing 9
Reggio Emilia 9
Toronto 9
Boston 8
Brno 8
Dearborn 8
Hyderabad 8
Montreal 8
Shekhupura 8
Haikou 7
Hangzhou 7
London 7
Mahé 7
Medford 7
Totale 6.224
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Nome #
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. 312
Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old. 261
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 251
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates 242
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility 229
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. 216
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene 213
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray 210
Analysis of shared heritability in common disorders of the brain 202
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 194
Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection 192
Analysis of X chromosome inactivation in autism spectrum disorders. 192
Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility 189
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants 189
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 187
A genome-wide linkage and association scan reveals novel loci for autism. 185
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. 182
Autism spectrum disorders: molecular genetic advances 179
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 179
A genome-wide scan for common alleles affecting risk for autism. 174
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. 169
Linkage and candidate gene studies of autism spectrum disorders in European populations. 159
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor 158
A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12 158
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations. 157
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia 155
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility 154
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes 154
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 148
ZZOLCHESTRA (cd) 146
Investigating the role of rare missense variants in RAB11B in Autism Spectrum Disorder 144
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 144
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders 139
DNA variants in the human RAB3A gene are not associated with autism. 138
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. 137
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. 137
Individual common variants exert weak effects on the risk for autism spectrum disorders. 136
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. 135
MET and autism susceptibility: family and case-control studies. 134
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. 134
Mapping autism risk loci using genetic linkage and chromosomal rearrangements 133
ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario 133
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 133
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. 131
Functional impact of global rare copy number variation in autism spectrum disorders. 131
Microarray testing (CGH-ARRAY) alterations in individuals with autism spectrum disorders. 130
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. 129
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. 123
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment 123
The role of rare compound heterozygous events in autism spectrum disorder 121
Genomic analysis of 116 families with Autism Spectrum Disorder: rare de novo and inherited variants further delineate the role of risk genes and highlight new candidates 116
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. 114
Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. 112
null 104
Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder 102
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility 96
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. 92
Lack of replication of previous autism spectrum disorder GWAS hits in European populations 92
null 81
null 64
null 63
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways 61
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' 59
null 58
Corrigendum: Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients(EMBO Mol Med, (2014), 6, (795–809), 10.1002/emmm.201303235) 42
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability 41
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene 39
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region 39
Identification of novel RFLPs in the vicinity of CpG islands in Xq28: Application to the analysis of the pattern of X chromosome inactivation 23
Totale 9.799
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Categoria #
all - tutte 26.441
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 26.441
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021666 0 0 0 0 0 40 18 76 134 73 53 272
2021/20221.192 137 19 79 42 133 104 45 78 83 78 254 140
2022/20231.237 95 142 54 107 93 179 71 73 214 39 112 58
2023/2024596 25 64 38 27 45 188 32 45 24 42 37 29
2024/20251.816 58 137 163 126 389 124 200 65 57 109 108 280
2025/20262.149 337 427 379 416 414 176 0 0 0 0 0 0
Totale 9.799