CRIS Current Research Information System

MAESTRINI, ELENA
 Distribuzione geografica
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Continente #
NA - Nord America 3.032
EU - Europa 2.403
AS - Asia 1.244
AF - Africa 134
SA - Sud America 9
OC - Oceania 1
Totale 6.823
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Nazione #
US - Stati Uniti d'America 3.025
IT - Italia 707
GB - Regno Unito 540
CN - Cina 433
SG - Singapore 289
VN - Vietnam 289
SE - Svezia 284
DE - Germania 254
IN - India 121
RU - Federazione Russa 108
UA - Ucraina 108
IE - Irlanda 82
FR - Francia 79
BG - Bulgaria 57
TG - Togo 54
FI - Finlandia 49
ZA - Sudafrica 43
EE - Estonia 40
JO - Giordania 36
CI - Costa d'Avorio 28
NL - Olanda 21
CH - Svizzera 19
ID - Indonesia 16
HK - Hong Kong 14
BE - Belgio 11
ES - Italia 11
AT - Austria 10
PK - Pakistan 10
CZ - Repubblica Ceca 9
CA - Canada 7
SC - Seychelles 7
HR - Croazia 6
KR - Corea 6
LB - Libano 6
BR - Brasile 5
IR - Iran 5
JP - Giappone 5
TR - Turchia 5
AE - Emirati Arabi Uniti 3
PL - Polonia 3
CL - Cile 2
HU - Ungheria 2
UZ - Uzbekistan 2
AR - Argentina 1
AU - Australia 1
CO - Colombia 1
DK - Danimarca 1
KH - Cambogia 1
MD - Moldavia 1
MU - Mauritius 1
PH - Filippine 1
RS - Serbia 1
SA - Arabia Saudita 1
SN - Senegal 1
TH - Thailandia 1
Totale 6.823
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Città #
Southend 474
Fairfield 351
Ashburn 265
Santa Clara 255
Singapore 237
Bologna 222
Chandler 193
Dong Ket 193
Seattle 184
Woodbridge 159
Wilmington 147
Houston 126
Cambridge 119
Ann Arbor 118
Princeton 103
Dublin 82
Boardman 70
New York 62
Jacksonville 60
Sofia 57
Lomé 54
Berlin 49
Padova 48
Redmond 47
Westminster 45
Nanjing 43
Turin 41
Amman 36
Beijing 33
Helsinki 32
Tappahannock 32
Abidjan 28
Milan 27
Jinan 23
Rome 21
Guangzhou 20
Shenyang 20
Boydton 19
San Diego 19
Des Moines 17
Lappeenranta 17
Saint Petersburg 17
Jakarta 16
Bern 14
Mülheim 13
Parma 13
Hebei 12
Hong Kong 12
Nanchang 12
Norwalk 12
Verona 12
Brussels 11
Florence 11
Nuremberg 11
Washington 11
Shanghai 10
Tianjin 10
Zhengzhou 10
Falls Church 9
Jiaxing 9
Brno 8
Cesena 8
Changsha 8
Dearborn 8
Hyderabad 8
Haikou 7
Mahé 7
Medford 7
Modena 7
Olalla 7
Phoenix 7
Redwood City 7
Reggio Emilia 7
Bühl 6
Falkenstein 6
Hangzhou 6
Lahore 6
Ningbo 6
Paris 6
Stockholm 6
Wuhan 6
Lanzhou 5
Macclesfield 5
Naples 5
Yubileyny 5
Barcelona 4
Bremen 4
Chicago 4
Dongguan 4
Harbin 4
Imola 4
Kunming 4
London 4
Shenzhen 4
Shijiazhuang 4
Taizhou 4
Vedelago 4
Vienna 4
Xi'an 4
Amsterdam 3
Totale 4.596
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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. 250
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. 182
Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old. 182
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 172
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. 168
A genome-wide linkage and association scan reveals novel loci for autism. 165
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants 162
Analysis of X chromosome inactivation in autism spectrum disorders. 161
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility 160
Analysis of shared heritability in common disorders of the brain 159
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray 157
Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection 155
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. 154
A genome-wide scan for common alleles affecting risk for autism. 152
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. 147
Autism spectrum disorders: molecular genetic advances 142
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 142
A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12 140
Linkage and candidate gene studies of autism spectrum disorders in European populations. 139
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype 133
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 129
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. 126
ZZOLCHESTRA (cd) 124
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders 123
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations. 122
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. 115
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. 112
Individual common variants exert weak effects on the risk for autism spectrum disorders. 111
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. 110
DNA variants in the human RAB3A gene are not associated with autism. 109
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. 109
Functional impact of global rare copy number variation in autism spectrum disorders. 108
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 105
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. 104
null 104
MET and autism susceptibility: family and case-control studies. 103
Mapping autism risk loci using genetic linkage and chromosomal rearrangements 102
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. 101
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. 99
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. 98
Microarray testing (CGH-ARRAY) alterations in individuals with autism spectrum disorders. 95
ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario 93
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. 92
Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. 91
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates 88
The role of rare compound heterozygous events in autism spectrum disorder 86
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder 85
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment 83
null 81
Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility 77
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. 74
Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder 68
null 64
null 63
null 58
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility 58
Lack of replication of previous autism spectrum disorder GWAS hits in European populations 53
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility 48
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor 45
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways 40
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' 35
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability 30
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes 28
Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region 18
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene 16
Identification of novel RFLPs in the vicinity of CpG islands in Xq28: Application to the analysis of the pattern of X chromosome inactivation 10
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) 4
Totale 7.019
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Categoria #
all - tutte 18.261
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 18.261
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020728 0 0 0 0 0 0 160 172 203 88 36 69
2020/2021974 147 43 34 38 46 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
2024/20251.185 58 137 163 126 389 124 188 0 0 0 0 0
Totale 7.019