IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

GERVASINI, CRISTINA COSTANZA GIOVANNA
 Distribuzione geografica
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Continente #
EU - Europa 13.403
NA - Nord America 10.076
AS - Asia 9.271
SA - Sud America 858
AF - Africa 230
OC - Oceania 103
Continente sconosciuto - Info sul continente non disponibili 10
Totale 33.951
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Nazione #
US - Stati Uniti d'America 9.642
GB - Regno Unito 4.799
CN - Cina 2.958
IT - Italia 2.606
SG - Singapore 2.485
DE - Germania 1.859
HK - Hong Kong 900
VN - Vietnam 874
SE - Svezia 805
RU - Federazione Russa 720
BR - Brasile 636
FR - Francia 620
IN - India 556
BD - Bangladesh 373
NL - Olanda 328
CA - Canada 306
IE - Irlanda 298
TR - Turchia 278
UA - Ucraina 270
FI - Finlandia 269
KR - Corea 191
ES - Italia 152
JP - Giappone 150
ID - Indonesia 147
DK - Danimarca 135
BE - Belgio 108
AU - Australia 95
CI - Costa d'Avorio 91
PL - Polonia 88
MX - Messico 77
EU - Europa 71
CO - Colombia 70
CH - Svizzera 65
AR - Argentina 50
GR - Grecia 45
AT - Austria 42
IQ - Iraq 42
ZA - Sudafrica 41
PH - Filippine 39
SA - Arabia Saudita 38
IL - Israele 35
CL - Cile 32
NO - Norvegia 26
PT - Portogallo 25
CZ - Repubblica Ceca 23
PK - Pakistan 23
EC - Ecuador 21
MY - Malesia 17
UZ - Uzbekistan 17
VE - Venezuela 17
RO - Romania 16
KE - Kenya 15
MA - Marocco 15
PY - Paraguay 14
AE - Emirati Arabi Uniti 13
EG - Egitto 13
IR - Iran 13
HR - Croazia 12
KZ - Kazakistan 12
LU - Lussemburgo 12
TW - Taiwan 12
HU - Ungheria 11
LT - Lituania 11
NP - Nepal 11
SC - Seychelles 11
LV - Lettonia 10
TH - Thailandia 10
TN - Tunisia 10
JO - Giordania 9
KG - Kirghizistan 9
PE - Perù 9
NZ - Nuova Zelanda 8
BG - Bulgaria 7
LK - Sri Lanka 7
NI - Nicaragua 7
RS - Serbia 7
SI - Slovenia 7
UY - Uruguay 6
AL - Albania 5
AZ - Azerbaigian 5
CY - Cipro 5
DZ - Algeria 5
HN - Honduras 5
JM - Giamaica 5
PA - Panama 5
SK - Slovacchia (Repubblica Slovacca) 5
SY - Repubblica araba siriana 5
BY - Bielorussia 4
CR - Costa Rica 4
GT - Guatemala 4
KW - Kuwait 4
LA - Repubblica Popolare Democratica del Laos 4
MK - Macedonia 4
PS - Palestinian Territory 4
AO - Angola 3
BA - Bosnia-Erzegovina 3
ET - Etiopia 3
GE - Georgia 3
IS - Islanda 3
KH - Cambogia 3
Totale 33.943
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Città #
Southend 4.307
Singapore 1.497
Ashburn 1.236
Chandler 922
Milan 833
Hong Kong 806
San Jose 556
Hanover 534
Beijing 518
Seattle 343
Dallas 341
Wilmington 334
Council Bluffs 313
Fairfield 311
Dublin 293
Los Angeles 293
Princeton 289
Hanoi 255
Ann Arbor 251
Ho Chi Minh City 249
Frankfurt am Main 246
Santa Clara 214
New York 195
Jacksonville 182
Woodbridge 169
Dearborn 164
Bengaluru 160
Guangzhou 159
Houston 153
Nanjing 148
Hefei 143
Lauterbourg 141
Toronto 133
Shanghai 130
Rome 129
Buffalo 126
Helsinki 121
Moscow 119
Des Moines 112
Cambridge 111
Phoenix 109
Mountain View 105
Jakarta 103
Munich 103
Abidjan 91
Tokyo 90
Boardman 88
Redwood City 87
Redmond 83
São Paulo 83
Istanbul 82
Jinan 75
Brussels 69
Columbus 68
Warsaw 64
Shenyang 62
The Dalles 61
Berlin 58
Seoul 57
Chicago 56
London 56
Kiez 55
Naples 53
Serra 53
Bühl 51
Da Nang 51
Hangzhou 50
Cangzhou 49
Sakarya 49
Bogotá 48
Falls Church 47
Nuremberg 47
Andover 46
Orem 41
Amsterdam 40
Tianjin 40
Athens 38
Bologna 37
Atlanta 36
Somerville 36
Hebei 35
Montreal 35
San Diego 35
Turin 35
Paris 34
Shenzhen 34
Madrid 32
Sydney 32
Edinburgh 31
Washington 31
Zhengzhou 31
Haiphong 30
Nürnberg 29
Medford 28
Turku 28
Wuhan 28
Zurich 27
Genoa 26
Pavia 26
Cagliari 25
Totale 20.665
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Nome #
ANKRD11 variants : KBG syndrome and beyond 1.470
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome 673
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome 529
Insights into the role of the microbiota and of short-chain fatty acids in Rubinstein–Taybi syndrome 526
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes 419
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype 352
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management 347
Rubinstein-Taybi syndrome : spectrum of CREBBP mutations in Italian patients. 345
Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells 345
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability 343
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome 334
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 320
Lithium as a positive modulator of defective WNT pathway in Cornelia de Lange Syndrome models 315
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
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
Chromatinopathies: a focus on Cornelia de Lange Syndrome 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
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders 297
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*) 288
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 288
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
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation 278
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes 277
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome 267
DNA methylation in the diagnosis of monogenic diseases 267
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 266
Potential impact of fetal genotype on maternal blood pressure during pregnancy : the example of EP300 265
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
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
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 256
Unexpected phenotype in a frameshift mutation of PTCH1 256
Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55) 253
Semaphorin Regulation by the Chromatin Remodeler CHD7 : An Emerging Genetic Interaction Shaping Neural Cells and Neural Crest in Development and Cancer 253
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype 252
Perthes disease : A new finding in Floating-Harbor syndrome 251
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 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
Cohesin mutations induce chromatin conformation perturbation of the H19/IGF2 imprinted region and gene expression dysregulation in Cornelia de Lange syndrome cell lines 250
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
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 244
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C 243
Identification of duplicated genes in 17q11.2 by using FISH on stretched chromosomes and DNA fibers 241
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes 239
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations 239
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies 236
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
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 232
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery 232
Phenotypic overlap of Roberts and Baller-Gerold syndromes in two patients with craniosynostosis, limb reductions, and ESCO2 mutations 230
Genotype-phenotype correlation in patients with NF1 microdeletion syndrome : identification of candidate genes for mental retardation 229
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms 229
Mosaicismo somatico nella sindrome di Cornelia de Lange: un ulteriore contributo all’eterogeneità’ clinica 228
Sindrome di Rubinstein Taybi: CREBBP e oltre 226
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome 226
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations 226
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
Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients 221
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies 220
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls 218
Interplay between Genetic Disorders and Gut Microbial Community: Rubinstein-Taybi Syndrome as a Model 213
KMT2A : umbrella gene for multiple diseases 213
Sindrome di Cornelia de Lange in un paziente portatore della Traslocazione t(5;15)(p13;q25.1): possibile effetto di posizione su NIPBL 211
Saliva detection of SARS-CoV-2 for mitigating company outbreaks: A surveillance experience, Milan, Italy, March 2021 211
Le basi biologiche della vita 208
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 207
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy 207
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies 206
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region 206
Developmental abnormalities and cancer predisposition in neurofibromatosis type 1 205
Contiguous gene syndrome detected by FISH/MLPA in a CdLS patient 204
Drosophila melanogaster as a model to study WNT pathway alteration in Cornelia de Lange Syndrome 203
Molecular characterization of a large cohort of Cornelia de Lange Syndrome Italian patients 202
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis 201
Derivation of the Duchennemuscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, Δ49, Δ50) 201
Characterization of breakpoint boundaries in 19 Neurofibromatosis type 1 microdeletions 200
NF1 exon 7 skipping by disruption of exonic splice enhancers (ESEs) in neurofibromatosis 1 198
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants 198
p300 inhibition delays premature cellular senescence 197
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 195
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) sindrome : two case reports 193
Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45–50 into an induced pluripotent stem cell line (CCMi005-A) 189
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation : correspondence 187
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 187
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter 186
FISH with locus-specific probes on stretched chromosomes : a useful tool for genome organization studies 186
Totale 27.253
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Categoria #
all - tutte 90.231
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 90.231
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021563 0 0 0 0 0 0 0 0 0 0 387 176
2021/20223.265 202 157 220 252 293 211 242 300 396 300 174 518
2022/20233.347 399 414 319 288 349 526 114 237 314 134 153 100
2023/20242.439 99 148 179 131 509 209 145 326 90 124 226 253
2024/20254.653 214 386 129 474 332 239 174 447 314 439 461 1.044
2025/202610.099 974 811 972 801 971 637 1.614 477 1.058 717 1.067 0
Totale 35.267