IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

MILANI, DONATELLA
 Distribuzione geografica
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Continente #
EU - Europa 4.402
NA - Nord America 4.027
AS - Asia 3.813
SA - Sud America 428
AF - Africa 101
OC - Oceania 26
Continente sconosciuto - Info sul continente non disponibili 8
Totale 12.805
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Nazione #
US - Stati Uniti d'America 3.822
GB - Regno Unito 1.393
CN - Cina 1.225
SG - Singapore 1.079
IT - Italia 937
DE - Germania 471
HK - Hong Kong 387
VN - Vietnam 345
SE - Svezia 341
BR - Brasile 296
RU - Federazione Russa 293
FR - Francia 179
BD - Bangladesh 169
NL - Olanda 152
IN - India 147
CA - Canada 144
JP - Giappone 104
IE - Irlanda 100
FI - Finlandia 99
DK - Danimarca 81
ES - Italia 79
KR - Corea 72
ID - Indonesia 70
BE - Belgio 69
TR - Turchia 65
AR - Argentina 55
UA - Ucraina 50
CI - Costa d'Avorio 45
MX - Messico 39
CO - Colombia 30
AT - Austria 22
AU - Australia 22
PL - Polonia 20
CH - Svizzera 19
CL - Cile 19
PT - Portogallo 18
TW - Taiwan 15
GR - Grecia 14
PH - Filippine 14
UZ - Uzbekistan 13
IQ - Iraq 12
NO - Norvegia 12
RO - Romania 12
ZA - Sudafrica 12
IL - Israele 11
MY - Malesia 11
CZ - Repubblica Ceca 10
SA - Arabia Saudita 9
TN - Tunisia 9
EC - Ecuador 8
PK - Pakistan 8
DZ - Algeria 7
EG - Egitto 7
PE - Perù 7
TH - Thailandia 7
GE - Georgia 6
KZ - Kazakistan 6
MA - Marocco 6
PS - Palestinian Territory 6
AE - Emirati Arabi Uniti 5
BG - Bulgaria 5
EU - Europa 5
HU - Ungheria 5
IR - Iran 5
JM - Giamaica 5
LU - Lussemburgo 5
AZ - Azerbaigian 4
KE - Kenya 4
NP - Nepal 4
NZ - Nuova Zelanda 4
PY - Paraguay 4
UY - Uruguay 4
VE - Venezuela 4
KG - Kirghizistan 3
LV - Lettonia 3
PA - Panama 3
PR - Porto Rico 3
RS - Serbia 3
XK - ???statistics.table.value.countryCode.XK??? 3
BH - Bahrain 2
CG - Congo 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
HR - Croazia 2
IS - Islanda 2
LB - Libano 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BM - Bermuda 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
CM - Camerun 1
GT - Guatemala 1
HN - Honduras 1
JO - Giordania 1
KH - Cambogia 1
Totale 12.790
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Città #
Southend 1.229
Singapore 686
Ashburn 491
Chandler 353
Hong Kong 344
Milan 263
San Jose 210
Hanover 198
Beijing 194
Ann Arbor 160
Fairfield 156
Los Angeles 139
Wilmington 139
Council Bluffs 136
New York 119
Dallas 114
Ho Chi Minh City 101
Dublin 100
Hanoi 100
Santa Clara 99
Princeton 98
Seattle 98
Toronto 85
Woodbridge 78
Moscow 75
Rome 73
Houston 69
Dearborn 68
Guangzhou 66
The Dalles 63
Frankfurt am Main 62
Cambridge 58
Helsinki 57
Lauterbourg 53
Tokyo 53
Munich 52
Bengaluru 51
Hefei 50
São Paulo 49
Boardman 47
Abidjan 45
Buffalo 45
Jakarta 44
Phoenix 44
Columbus 43
Jinan 42
Des Moines 41
Redwood City 41
Shanghai 40
Nanjing 38
Brussels 37
Cangzhou 30
Hangzhou 30
Buenos Aires 27
Seoul 27
Da Nang 23
Istanbul 22
Shenyang 21
Shenzhen 21
Ottawa 20
Zhengzhou 20
Chicago 19
Atlanta 18
Naples 18
Amsterdam 17
Madrid 17
Mountain View 16
Mumbai 16
Nuremberg 16
Tianjin 16
Nanchang 15
Palermo 15
Changsha 14
Copenhagen 14
Edinburgh 14
Falls Church 14
Fuzhou 14
Hebei 14
Santiago 14
Verona 14
Bari 13
Berlin 13
Groningen 13
Montreal 13
Orem 13
Turin 13
Vienna 13
Florence 12
Athens 11
Bogotá 11
Hiroshima 11
London 11
Sunnyvale 11
Wuhan 11
Bologna 10
Haiphong 10
Jacksonville 10
Taipei 10
Taiyuan 10
Waanrode 10
Totale 7.861
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Nome #
Clinically non-functioning pituitary incidentalomas: characteristics and natural history 969
Insights into the role of the microbiota and of short-chain fatty acids in Rubinstein–Taybi syndrome 526
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management 347
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins 337
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 321
A case report with the peculiar concomitance of 2 different genetic syndromes 321
CATSHL syndrome, a new family and phenotypic expansion 318
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
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 300
HOXA genes cluster: clinical implications of the smallest deletion 293
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability : a case report 289
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome 266
Potential impact of fetal genotype on maternal blood pressure during pregnancy : the example of EP300 265
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome 265
Otitis media with effusion and hearing impairment in children with Cornelia de Lange syndrome 261
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
Perthes disease : A new finding in Floating-Harbor syndrome 251
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth 245
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies 238
Fragile X syndrome : A review of clinical and molecular diagnoses 237
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions 236
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 234
7p22.1 microduplication syndrome : refinement of the critical region 233
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery 232
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 223
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes 218
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome 215
New Insights into Kleefstra Syndrome : Report of Two Novel Cases with Previously Unreported Features and Literature Review 202
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 202
16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation 198
Mayer–Rokitansky–Küster–Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature 197
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene 190
Beckwith–Wiedemann and IMAGe syndromes : two very different diseases caused by mutations on the same gene 189
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review 186
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter 186
The absence that makes the difference: choroidal abnormalities in Legius syndrome 186
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology 175
Aortic dilation in Sotos syndrome : an underestimated feature? 175
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 171
Syndromic obesity : clinical implications of a correct diagnosis 169
Treatment of Neurofibromatosis Type 1 160
A multidisciplinary approach in neurofibromatosis 1 153
Vaccination coverage of children with rare genetic diseases and attitudes of their parents towards vaccines 150
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? : A case report and review of 62 cases 150
Is it time to change the neurofibromatosis 1 diagnostic criteria? 145
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 144
Hepatoblastoma in Rubinstein-Taybi Syndrome: a case report 143
Insights into 6q21-q22 : Refinement of the critical region for acro-cardio-facial syndrome 140
Response to "Characteristics of 2p15-p16.1 microdeletion syndrome : review and description of two additional patients" 131
Complex genomic alterations and intellectual disability: an interpretative challenge 130
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report 128
Ehlers-Danlos syndrome versus cleidocranial dysplasia 127
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients 125
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5 111
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience 84
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene 69
Totale 13.275
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Categoria #
all - tutte 35.524
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 35.524
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021173 0 0 0 0 0 0 0 0 0 0 110 63
2021/20221.200 106 60 88 97 106 83 81 74 161 89 44 211
2022/20231.231 134 157 108 106 112 204 72 88 120 25 57 48
2023/2024838 28 48 79 66 216 55 39 58 30 42 69 108
2024/20252.286 116 205 73 216 174 101 98 206 145 241 233 478
2025/20264.180 454 282 399 354 422 260 745 159 361 272 472 0
Totale 13.275