CINECA IRIS Institutional Research Information System

FERRERO, Giovanni Battista
 Distribuzione geografica
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Continente #
NA - Nord America 9.538
EU - Europa 9.383
AS - Asia 3.401
SA - Sud America 191
OC - Oceania 136
AF - Africa 75
Continente sconosciuto - Info sul continente non disponibili 10
Totale 22.734
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Nazione #
US - Stati Uniti d'America 9.259
IT - Italia 4.162
CN - Cina 1.868
IE - Irlanda 878
SE - Svezia 727
FR - Francia 630
DE - Germania 584
SG - Singapore 435
FI - Finlandia 406
UA - Ucraina 376
GB - Regno Unito 368
AT - Austria 338
KR - Corea 304
CA - Canada 223
JP - Giappone 184
PL - Polonia 168
VN - Vietnam 154
ES - Italia 151
NL - Olanda 132
BR - Brasile 125
IN - India 118
AU - Australia 115
BE - Belgio 92
HK - Hong Kong 66
ID - Indonesia 64
TR - Turchia 62
CH - Svizzera 51
BA - Bosnia-Erzegovina 50
IL - Israele 46
RU - Federazione Russa 45
SN - Senegal 41
DK - Danimarca 36
MX - Messico 36
NO - Norvegia 33
GR - Grecia 29
PT - Portogallo 27
RO - Romania 26
TW - Taiwan 26
CO - Colombia 22
NZ - Nuova Zelanda 21
AR - Argentina 20
CZ - Repubblica Ceca 20
CL - Cile 14
HU - Ungheria 13
EG - Egitto 11
IR - Iran 11
CR - Costa Rica 10
SI - Slovenia 10
NG - Nigeria 9
BG - Bulgaria 8
TH - Thailandia 8
ZA - Sudafrica 8
EU - Europa 7
MY - Malesia 7
SA - Arabia Saudita 7
UZ - Uzbekistan 7
AE - Emirati Arabi Uniti 6
MK - Macedonia 5
PH - Filippine 5
PK - Pakistan 4
PR - Porto Rico 4
BD - Bangladesh 3
BO - Bolivia 3
CY - Cipro 3
DZ - Algeria 3
EC - Ecuador 3
HR - Croazia 3
KW - Kuwait 3
LT - Lituania 3
PE - Perù 3
QA - Qatar 3
RS - Serbia 3
A1 - Anonimo 2
GT - Guatemala 2
KZ - Kazakistan 2
LU - Lussemburgo 2
PA - Panama 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BS - Bahamas 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
GE - Georgia 1
HN - Honduras 1
IS - Islanda 1
LK - Sri Lanka 1
LV - Lettonia 1
MO - Macao, regione amministrativa speciale della Cina 1
MT - Malta 1
PY - Paraguay 1
TN - Tunisia 1
UG - Uganda 1
Totale 22.734
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Città #
Chandler 1.301
Beijing 898
Dublin 820
Houston 558
Ann Arbor 491
Torino 484
Fairfield 443
Ashburn 369
Vienna 321
Singapore 302
Villeurbanne 283
Wilmington 269
Princeton 258
Jacksonville 230
Rome 226
Nyköping 224
Medford 222
Dearborn 218
Woodbridge 214
Turin 206
Milan 204
Seattle 193
Redwood City 170
Cambridge 156
Warsaw 138
Shanghai 122
Boston 106
Pisa 101
Dong Ket 97
Guangzhou 90
Naples 85
Nanjing 81
Florence 72
Boardman 70
Jakarta 59
Fremont 55
Toronto 52
Palermo 51
Hangzhou 50
Helsinki 50
New York 50
Santa Clara 42
Genoa 41
London 41
Catania 40
Philadelphia 40
Tokyo 40
Bari 39
Los Angeles 38
San Diego 36
Padova 35
Verona 35
Sarajevo 34
Falls Church 33
Paris 33
Washington 33
Brussels 32
Norwalk 31
Seoul 31
Ottawa 28
Edinburgh 27
Hefei 26
Istanbul 26
San Francisco 26
Chengdu 25
Kunming 25
Messina 24
Dallas 23
Hebei 23
Kildare 23
Madrid 23
Wuhan 23
Bologna 22
Jinan 22
Barcelona 21
Changchun 21
Changsha 21
Lappeenranta 21
Lyndhurst 21
Phoenix 21
Napoli 20
Nijmegen 20
Stuttgart 20
Zhengzhou 20
São Paulo 19
Brisbane 18
Hong Kong 18
New Haven 18
North York 18
Silver Spring 18
Taipei 17
Central District 16
Latina 16
Piemonte 16
Irvine 15
Melbourne 15
Mountain View 15
Nanchang 15
Sydney 14
Tianjin 14
Totale 11.877
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Nome #
Genetica dell'autismo 2.526
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 1.870
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 717
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 600
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 479
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 429
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 359
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 340
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 303
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 245
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 238
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 226
Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair 221
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement 220
Analisi del profilo di trascrizione genetica nella sindrome di Noonan. 216
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 202
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 199
Recessive gene disruptions in autism spectrum disorder 188
Mapping the human genetic architecture of COVID-19 182
The KCNQ1OT1 Imprinting Control Region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. 180
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient 179
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome 171
PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts 157
Transcriptional hallmarks of Noonan syndrome in peripheral blood mononuclear cells 156
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 153
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 153
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 149
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 145
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair 142
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 137
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 129
Molecular dissection of Noonan syndrome by transcriptiome analysis 127
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 127
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism 126
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability 125
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder 122
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant 120
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients 114
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 113
CNS involvement in OFD1 syndrome: A clinical, molecular, and neuroimaging study 111
A rare craniosynostosis associated with an atypical 22q11 microdeletion 109
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 108
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome 102
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 100
Clinical manifestations in a cohort of 32 children with 22q11 deletion syndrome 98
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 92
Cover Image, Volume 170A, Number 7, July 2016 91
A submicroscopic deletion in Xq26 associated with familial situs ambiguus. 90
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. 89
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus 89
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 88
A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome. 87
An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient 87
SOS1 mutations in Noonan syndrome:molecular spectrum, structural insights on pathogenic effects, andgenotype-phenotype correlations. 86
Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency. 85
Prevalence of beckwith-wiedemann syndrome in North West of Italy 85
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome 85
Heterotopic bone formation not related to PHO/FOP disease: a new entity 84
Le basi molecolari delle iperfenilalaninemie ereditarie nella popolazione italiana 83
Prevention and management of hearing loss in syndromic craniosynostosis: A case series 82
Esophageal duplication cyst in newborn 82
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results 82
Identificazione, mediante ARRAY-CGH, di microriarrangiamenti genomici in 215 pazienti affetti da epilessia criptogenetica 81
Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome 81
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 81
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability 80
Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes. 80
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability 80
A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm 78
A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29 78
Sindrome di Van der Woude familiare ad alta variabilità clinica in quattro generazioni 78
Iperammoniemia da shunt porto-cavale congenito in due fratelli con ritardo cognitivo e disturbi comportamentali 78
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 78
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review 78
Early versus late screening for phenylketonuria: a metabolic study. 77
Array-CGH analysis in a patient with Acrocallosal Syndrome 76
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 76
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. 75
ARRAY-CGH analysis in 92 children with complex syndromic phenotype 75
Myhre syndrome. report of three unrelated patients 75
Molecular and clinical characterization of 37 patients with Noonan syndrome 75
X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred 74
A child with macrocephaly: case report of a patient with megalencephalicleukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. 74
Craniostenosi complessa da riarrangiamento cromosomico subtelomerico 74
X-linked situs abnormalities result from mutations in ZIC3 73
A high resolution deletion map of human chromosome Xp22. 73
Prenatal features of Noonan syndrome: prevalence and prognostic value. 73
Screening neonatale di massa per malattie metaboliche: 10 anni di attività nella regione Piemonte 73
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: A paradigm for genomic medicine 73
A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 72
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. 71
a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS. 71
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. 69
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome. 69
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot 69
Constitutional bone impairment in Noonan syndrome 68
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. 68
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. 67
Analisi molecolare Arrays-CGH in 36 pazienti con fenotipo sindromico complesso 67
Newborn feeding and screening for phenylketonuria. 66
Totale 17.504
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Categoria #
all - tutte 61.240
article - articoli 0
book - libri 0
conference - conferenze 10.243
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 71.483
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.469 0 0 141 299 175 524 320 210 251 238 187 124
2020/20213.788 183 258 396 380 417 437 495 228 208 241 207 338
2021/20223.328 135 149 174 423 161 146 184 207 187 267 639 656
2022/20234.713 426 351 134 441 409 945 402 356 564 198 294 193
2023/20242.835 290 400 157 216 151 209 133 173 65 290 275 476
2024/2025843 223 368 252 0 0 0 0 0 0 0 0 0
Totale 23.491