IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

LARIZZA, LIDIA
 Distribuzione geografica
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Continente #
EU - Europa 23.196
NA - Nord America 20.216
AS - Asia 15.764
SA - Sud America 1.548
AF - Africa 367
OC - Oceania 185
Continente sconosciuto - Info sul continente non disponibili 16
Totale 61.292
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Nazione #
US - Stati Uniti d'America 19.510
GB - Regno Unito 9.160
CN - Cina 5.059
SG - Singapore 4.233
IT - Italia 3.269
DE - Germania 2.481
SE - Svezia 2.058
RU - Federazione Russa 1.549
HK - Hong Kong 1.359
VN - Vietnam 1.299
BR - Brasile 1.137
FR - Francia 969
IN - India 905
TR - Turchia 756
NL - Olanda 649
UA - Ucraina 586
KR - Corea 570
IE - Irlanda 560
FI - Finlandia 525
CA - Canada 503
BD - Bangladesh 469
JP - Giappone 332
EU - Europa 264
ES - Italia 242
PL - Polonia 213
ID - Indonesia 202
GR - Grecia 184
AU - Australia 160
BE - Belgio 146
CO - Colombia 146
CI - Costa d'Avorio 141
DK - Danimarca 131
MX - Messico 120
AR - Argentina 98
AT - Austria 61
IQ - Iraq 59
ZA - Sudafrica 59
NO - Norvegia 56
PT - Portogallo 56
IL - Israele 54
CH - Svizzera 50
PH - Filippine 48
TW - Taiwan 46
UZ - Uzbekistan 46
CZ - Repubblica Ceca 44
EC - Ecuador 44
TN - Tunisia 43
PK - Pakistan 38
RO - Romania 38
CL - Cile 34
VE - Venezuela 34
SA - Arabia Saudita 32
TH - Thailandia 32
MA - Marocco 31
SI - Slovenia 28
HU - Ungheria 25
IR - Iran 25
EG - Egitto 23
NZ - Nuova Zelanda 23
AE - Emirati Arabi Uniti 21
MY - Malesia 20
PY - Paraguay 18
KE - Kenya 17
JO - Giordania 16
PE - Perù 16
KZ - Kazakistan 15
JM - Giamaica 14
RS - Serbia 14
BA - Bosnia-Erzegovina 13
NP - Nepal 13
LK - Sri Lanka 12
UY - Uruguay 12
CR - Costa Rica 11
LU - Lussemburgo 11
PS - Palestinian Territory 11
AL - Albania 10
BG - Bulgaria 10
DZ - Algeria 10
LT - Lituania 10
NI - Nicaragua 10
SK - Slovacchia (Repubblica Slovacca) 10
CY - Cipro 9
EE - Estonia 9
KG - Kirghizistan 9
LB - Libano 9
LV - Lettonia 9
AZ - Azerbaigian 8
GE - Georgia 8
QA - Qatar 8
TT - Trinidad e Tobago 8
GT - Guatemala 7
HR - Croazia 7
OM - Oman 6
BH - Bahrain 5
BO - Bolivia 5
HN - Honduras 5
KW - Kuwait 5
MM - Myanmar 5
SY - Repubblica araba siriana 5
BY - Bielorussia 4
Totale 61.439
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Città #
Southend 8.302
Singapore 2.435
Ashburn 2.136
Chandler 1.572
Hong Kong 1.230
Seattle 1.049
Milan 997
San Jose 910
Beijing 905
Wilmington 717
Princeton 644
Fairfield 631
Council Bluffs 563
Dublin 552
Boise 537
Ann Arbor 529
Dallas 448
Frankfurt am Main 445
Los Angeles 441
Woodbridge 427
Houston 403
Jacksonville 403
Dearborn 384
Ho Chi Minh City 376
Redmond 344
Hanoi 324
Nanjing 322
Hanover 315
Mountain View 314
Santa Clara 301
Bengaluru 280
Lauterbourg 262
Redwood City 260
Cambridge 252
Toronto 251
Boardman 242
Guangzhou 233
Buffalo 232
Sakarya 232
New York 230
Shanghai 219
Moscow 211
Des Moines 202
Helsinki 196
Hefei 177
Rome 167
Chicago 166
Athens 161
The Dalles 161
Tokyo 156
Jinan 152
Phoenix 148
Serra 142
Abidjan 140
Columbus 140
Jakarta 127
Bogotá 117
Shenyang 117
Andover 112
São Paulo 110
Somerville 109
Warsaw 107
Brussels 106
Tianjin 101
Hangzhou 98
Cangzhou 97
Munich 97
Berlin 96
Bühl 91
San Diego 86
Hebei 85
Naples 81
Da Nang 78
Nanchang 76
Dong Ket 74
Falls Church 70
Changsha 65
Delhi 64
Turin 64
Kiez 62
Paris 62
Seoul 62
Fuzhou 58
Washington 58
Eitensheim 56
Zhengzhou 55
Shenzhen 54
London 53
Salt Lake City 51
Istanbul 49
Nuremberg 49
Wuhan 48
Jiaxing 46
Atlanta 44
Madrid 44
Edinburgh 42
Melbourne 41
Haiphong 38
Montreal 38
Ningbo 38
Totale 37.244
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Nome #
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 2.294
Complex rearrangement involving 9p deletion and duplication in a syndromic patient : Genotype/phenotype correlation and review of the literature 847
STI 571 inhibition effect on KITAsn822Lys-mediated signal transduction cascade 755
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes 703
KIT activating mutations : incidence in adult and pediatric AML, and identification of an internal tandem duplication 693
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome 673
Differential signature of the centrosomal MARK4 isoforms in glioma 611
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with nonsyndromic mental retardation 520
Chronic myelogenous leukemia with acquired c-kit activating mutation and transient bone marrow mastocytosis 494
A Novel KIDINS220 pathogenic variant associated with the syndromic spastic paraplegia SINO: an expansion of the brain malformation spectrum and a literature review 468
Germline mosaicism in Rett syndrome identified by prenatal diagnosis 454
Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines 433
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia 419
Smith-Magenis sindrome and growth hormone deficiency 356
Rubinstein-Taybi syndrome : spectrum of CREBBP mutations in Italian patients. 345
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome 334
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor 331
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion 325
C-Kit point mutations in core binding factor leukemias: correlation with white blood cell count and the white blood cell index 325
Rothmund-Thomson syndrome 322
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 320
Duplicazioni parziali di SHOX associate alla Sindrome di Mayer-Rokitansky-Kuster-Hauser 309
Somatic mosaicism in Cornelia de Lange syndrome : a further contributor to the wide clinical expressivity? 305
NUOVE MUTAZIONI PUNTIFORMI E DELEZIONI ESONICHE DEL GENE EP300 IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 304
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 303
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome 303
Prenatal/neonatal pathology findings in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL 302
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 300
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features 300
Evidence for nonhomologous end joining and non allelic homologous recombination in atypical NF1 microdeletions 299
Chromosome 13q14.2-q14.3 and 15q26.2-qter deletions detected by array-CGH in two patients with Cornelia de Lange syndrome 299
MARK4 : a tricky balance of L and S isoforms rules glial differentiation and glioma progression 299
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype 295
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations 289
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*) 287
Mental retardation and cardiovascular malformations are significantly present in NF1-microdeleted patients and point to candidate genes in 17q11.2 285
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome 283
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 283
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 283
Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction 280
NSD1 intragenic deletion in a patient with Sotos/5q subtelomeric deletion syndrome combined phenotype without 5q35.3 deletion 279
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations 279
IDENTIFICAZIONE DEI GENI TARGET DEL miR-182 NELLA LINEA CELLULARE KASUMI-1, MODELLO DI LEUCEMIA MIELOIDE ACUTA (AML), E NELLE SUE SOTTOPOPOLAZIONI 279
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes 277
FISH characterization of t(8;12)(q12;p13) observed as the sole karyotypic anomaly in a myelodysplastic syndrome patient 273
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome 270
De novo balanced chromosome rearrangements in prenatal diagnosis 268
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome 267
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 266
Differential cytogenomics and miRNA signature of the Acute Myeloid Leukaemia Kasumi-1 cell line CD34(+)38(-) compartment 264
Regulatory element deletion cause a down-regulation of ZDHHC15 gene in a proband with Smith Magenis syndrome phenotype 264
CHROMOSOMAL IMBALANCES IN RUBINSTEIN-TAYBI PATIENTS NEGATIVE TO CREBBP MUTATIONAL TEST 263
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene 261
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome 261
Sindrome di Cornelia de Lange: analisi mutazionale dei geni NIPBL e SMC1L1 nella flow-chart diagnostico-molecolare 260
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 260
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature 258
19p deletion in recurring leiomyosarcoma lesions from the same patient 257
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome 257
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 256
Rings and bricks : Expression of cohesin components is dynamic during development and adult life 253
Imatinib mesylate in the treatment of Core Binding Factor leukemias with KIT mutations - A report of three cases 252
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype 252
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature 251
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation 250
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome 250
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients 250
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 250
Submicroscopic genomic alterations detected by array CGH analysis in a cohort of patients with Silver Russell syndrome found negative to classical genetic and epigenetic tests 249
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region 248
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 246
Functional analysis of splicing mutations in exon 7 of NF1 gene 245
The Kasumi-1 cell line : a t(8;21)-kit mutant model for acute myeloid leukemia 244
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 244
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature. 243
SINDROME DI ROTHMUND-THOMSON: CARATTERIZZAZIONE CLINICO-MOLECOLARE DI TRE NUOVI PAZIENTI 242
Identification of duplicated genes in 17q11.2 by using FISH on stretched chromosomes and DNA fibers 241
Histone deacetylase inhibitors ameliorate morphological defects and hypoexcitability of iPSC-neurons from Rubinstein-Taybi patients 240
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes 239
Microtubule-associated protein/microtubule affinity-regulating kinase 4 (MARK4) plays a role in cell cycle progression and cytoskeletal dynamics 239
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies 238
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 238
High frequency of mosaic CREBBP deletions in RSTS patients and mapping of somatic and germline breakpoints 235
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q 234
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 234
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly 232
VIABLE PHENOTYPE ASSOCIATED WITH NOVEL MUTATIONS OF INTEGRIN 3, ENCODING A LAMININS RECEPTOR INVOLVED IN STRUCTURAL AND FUNCTIONAL ORGANIZATION OF LUNG, KIDNEY AND SKIN EPITHELIA 231
Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses. [Erratum to document cited in CA144:085286] 230
Genotype-phenotype correlation in patients with NF1 microdeletion syndrome : identification of candidate genes for mental retardation 229
Clericuzio-Type Poikiloderma With Neutropenia Syndrome in Three Sibs With Mutations in the C16orf57 Gene : Delineation of the Phenotype 229
Mosaicismo somatico nella sindrome di Cornelia de Lange: un ulteriore contributo all’eterogeneità’ clinica 228
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms 228
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene 227
Sindrome di Rubinstein Taybi: CREBBP e oltre 226
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome 226
A tumor suppressor locus in familial and sporadic chordoma maps to 1p36 225
Studio comparativo di LOH e di espressione in linee cellulari di cordoma e nei tumori di origine 224
Multiple localization of endogenous MARK4L protein in human glioma 223
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 223
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype 223
Totale 32.460
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Categoria #
all - tutte 151.143
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 151.143
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.413 0 0 0 0 0 0 0 0 0 0 1.015 398
2021/20224.670 438 219 245 240 413 219 277 245 728 520 349 777
2022/20235.752 721 695 474 605 629 983 159 467 531 123 235 130
2023/20244.102 138 284 236 277 755 287 182 787 122 238 338 458
2024/20257.877 344 627 164 840 563 370 306 894 453 694 688 1.934
2025/202614.194 1.416 949 1.331 1.105 1.556 1.094 2.005 833 1.565 1.065 1.275 0
Totale 64.028