FERRERO, Giovanni Battista
 Distribuzione geografica
Continente #
NA - Nord America 6741
EU - Europa 5964
AS - Asia 2422
SA - Sud America 136
OC - Oceania 83
AF - Africa 55
Continente sconosciuto - Info sul continente non disponibili 10
Totale 15411
Nazione #
US - Stati Uniti d'America 6532
IT - Italia 2413
CN - Cina 1576
FR - Francia 534
SE - Svezia 526
DE - Germania 484
UA - Ucraina 375
FI - Finlandia 339
AT - Austria 327
KR - Corea 294
GB - Regno Unito 242
CA - Canada 169
PL - Polonia 153
VN - Vietnam 152
JP - Giappone 140
NL - Olanda 107
BR - Brasile 97
IN - India 91
ES - Italia 85
AU - Australia 73
IE - Irlanda 63
BE - Belgio 57
BA - Bosnia-Erzegovina 45
SN - Senegal 37
IL - Israele 34
DK - Danimarca 30
CH - Svizzera 28
MX - Messico 26
HK - Hong Kong 25
NO - Norvegia 24
TR - Turchia 24
RO - Romania 23
RU - Federazione Russa 23
TW - Taiwan 23
GR - Grecia 22
PT - Portogallo 19
AR - Argentina 13
CL - Cile 10
NZ - Nuova Zelanda 10
CO - Colombia 9
CZ - Repubblica Ceca 9
HU - Ungheria 9
IR - Iran 9
EG - Egitto 7
EU - Europa 7
UZ - Uzbekistan 7
CR - Costa Rica 6
ID - Indonesia 6
MK - Macedonia 5
SI - Slovenia 5
TH - Thailandia 5
ZA - Sudafrica 5
AE - Emirati Arabi Uniti 4
BG - Bulgaria 4
PH - Filippine 4
PR - Porto Rico 4
SA - Arabia Saudita 4
SG - Singapore 4
BD - Bangladesh 3
EC - Ecuador 3
NG - Nigeria 3
PE - Perù 3
PK - Pakistan 3
QA - Qatar 3
A1 - ???statistics.table.value.countryCode.A1??? 2
CY - Cipro 2
GT - Guatemala 2
LT - Lituania 2
LU - Lussemburgo 2
MY - Malesia 2
PS - Palestinian Territory 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
BS - Bahamas 1
DZ - Algeria 1
GE - Georgia 1
HN - Honduras 1
HR - Croazia 1
IS - Islanda 1
KW - Kuwait 1
KZ - Kazakistan 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 15411
Città #
Beijing 884
Houston 550
Ann Arbor 490
Torino 483
Chandler 455
Fairfield 443
Vienna 314
Villeurbanne 283
Wilmington 268
Princeton 259
Jacksonville 230
Medford 222
Dearborn 218
Woodbridge 214
Ashburn 188
Seattle 179
Redwood City 170
Cambridge 149
Warsaw 135
Milan 105
Boston 99
Rome 98
Shanghai 98
Dong Ket 97
Pisa 93
Guangzhou 60
Fremont 55
Nanjing 50
Hangzhou 49
Toronto 42
Nyköping 34
Falls Church 33
Sarajevo 32
Tokyo 32
Norwalk 31
San Diego 31
Philadelphia 30
Ottawa 28
Paris 28
Hefei 26
Seoul 26
Turin 26
Florence 25
Kunming 24
Verona 24
Hebei 23
Kildare 23
Dallas 22
Padova 22
Wuhan 22
Catania 21
Changchun 21
Lyndhurst 21
Chengdu 20
Napoli 20
San Francisco 20
Stuttgart 20
Changsha 19
Nijmegen 19
Los Angeles 18
Phoenix 18
Silver Spring 18
Edinburgh 17
Jinan 17
Central District 16
Piemonte 16
Irvine 15
Mountain View 15
Nanchang 15
New Haven 15
New York 15
North York 15
Palermo 15
São Paulo 15
Taipei 15
Zhengzhou 15
Latina 14
Tianjin 14
Brussels 13
Legnano 13
La Jolla 12
Lachine 12
Chongqing 11
Fuzhou 11
London 11
Waanrode 11
Xian 11
Anderson 10
Barcelona 10
Berlin 10
Bethesda 10
Brookline 10
Genova 10
Indianapolis 10
Madrid 10
Shenyang 10
Stavanger 10
Atlanta 9
Mumbai 9
Rochester 9
Totale 8233
Nome #
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 1769
Genetica dell'autismo 1303
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 607
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 519
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 414
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 251
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 208
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 189
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 186
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 183
Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair 181
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 175
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 175
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement 166
Analisi del profilo di trascrizione genetica nella sindrome di Noonan. 164
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient 154
The KCNQ1OT1 Imprinting Control Region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. 144
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome 142
Recessive gene disruptions in autism spectrum disorder 138
PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts 135
Transcriptional hallmarks of Noonan syndrome in peripheral blood mononuclear cells 127
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 118
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 116
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 116
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair 111
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 106
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 105
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability 104
Molecular dissection of Noonan syndrome by transcriptiome analysis 103
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 100
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant 98
CNS involvement in OFD1 syndrome: A clinical, molecular, and neuroimaging study 97
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder 96
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients 92
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 83
Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency. 75
Clinical manifestations in a cohort of 32 children with 22q11 deletion syndrome 75
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 73
A submicroscopic deletion in Xq26 associated with familial situs ambiguus. 72
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 72
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome 71
A rare craniosynostosis associated with an atypical 22q11 microdeletion 70
X-linked situs abnormalities result from mutations in ZIC3 68
Sindrome di Van der Woude familiare ad alta variabilità clinica in quattro generazioni 67
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. 67
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH 66
Esophageal duplication cyst in newborn 65
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results 65
X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred 64
Heterotopic bone formation not related to PHO/FOP disease: a new entity 64
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability 64
SOS1 mutations in Noonan syndrome:molecular spectrum, structural insights on pathogenic effects, andgenotype-phenotype correlations. 63
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability 62
Cover Image, Volume 170A, Number 7, July 2016 62
A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome. 61
Identificazione, mediante ARRAY-CGH, di microriarrangiamenti genomici in 215 pazienti affetti da epilessia criptogenetica 61
Prevention and management of hearing loss in syndromic craniosynostosis: A case series 61
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 61
Prevalence of beckwith-wiedemann syndrome in North West of Italy 59
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus 59
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 59
A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm 56
Myhre syndrome. report of three unrelated patients 56
Iperammoniemia da shunt porto-cavale congenito in due fratelli con ritardo cognitivo e disturbi comportamentali 56
Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes. 56
An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient 55
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome 55
Prenatal features of Noonan syndrome: prevalence and prognostic value. 54
Le basi molecolari delle iperfenilalaninemie ereditarie nella popolazione italiana 54
Truncus arteriosus and isochromosome 8q 53
Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy. 53
Sindrome da delezione subtelomerica 9q: un fenotipo caratteristico 53
Array-CGH analysis in a patient with Acrocallosal Syndrome 53
Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome 52
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance 52
Subcortical band heterotopia with simplified gyral pattern and syndactyly. 51
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. 51
A high resolution deletion map of human chromosome Xp22. 50
Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor 50
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism 50
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. 49
A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29 49
Craniostenosi complessa da riarrangiamento cromosomico subtelomerico 49
ARRAY-CGH analysis in 92 children with complex syndromic phenotype 48
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 48
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. 47
le anomalie dei capelli come segno di malattia mitocondriale 47
Screening neonatale di massa per malattie metaboliche: 10 anni di attività nella regione Piemonte 47
La tecnologia del microchip: Una strategia avanzata per la caratterizzazione molecolare delle mutazioni più frequentemente associate a craniostenosi 47
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome 47
a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS. 47
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. 47
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. 46
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. 46
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. 46
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. 46
Eyebrow anomalies as a diagnostic sign of genomic disorders 45
Cleft lip and palate associated with cervical aplasia cutis 45
Molecular and clinical characterization of 37 patients with Noonan syndrome 45
Clinical and molecolar characterization of 40 patients with Noonan syndrome 45
Totale 12427
Categoria #
all - tutte 20571
article - articoli 0
book - libri 0
conference - conferenze 3491
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24062


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/20181658 0000 075 82333 6433548685
2018/20191751 1015912595 83105 140222 126177324194
2019/20202699 129101141299 175524 320210 251238187124
2020/20213788 183258396380 417437 495228 208241207338
2021/20223320 135149174423 161146 184205 186267635655
2022/20231032 427351133121 00 00 0000
Totale 16124