CIRILLO, Margherita
 Distribuzione geografica
Continente #
NA - Nord America 6.016
EU - Europa 5.208
AS - Asia 2.171
AF - Africa 51
SA - Sud America 34
OC - Oceania 28
Continente sconosciuto - Info sul continente non disponibili 3
Totale 13.511
Nazione #
US - Stati Uniti d'America 5.925
CN - Cina 1.415
IT - Italia 1.185
IE - Irlanda 802
SE - Svezia 560
FR - Francia 528
FI - Finlandia 463
KR - Corea 420
DE - Germania 403
UA - Ucraina 380
AT - Austria 222
GB - Regno Unito 179
PL - Polonia 168
VN - Vietnam 106
BE - Belgio 92
CA - Canada 73
IN - India 65
ES - Italia 46
JP - Giappone 44
NL - Olanda 44
SN - Senegal 38
TR - Turchia 38
PT - Portogallo 28
BR - Brasile 25
AU - Australia 24
CH - Svizzera 18
RU - Federazione Russa 16
HK - Hong Kong 14
MX - Messico 13
DK - Danimarca 12
GR - Grecia 11
SG - Singapore 9
TW - Taiwan 9
PK - Pakistan 8
CZ - Repubblica Ceca 7
ID - Indonesia 7
NO - Norvegia 7
RO - Romania 7
UZ - Uzbekistan 7
LT - Lituania 6
BH - Bahrain 5
CR - Costa Rica 5
CY - Cipro 5
IR - Iran 5
AR - Argentina 4
EG - Egitto 4
HR - Croazia 4
HU - Ungheria 4
NZ - Nuova Zelanda 4
SI - Slovenia 4
ZA - Sudafrica 4
LU - Lussemburgo 3
PH - Filippine 3
TH - Thailandia 3
CO - Colombia 2
EU - Europa 2
IL - Israele 2
IS - Islanda 2
RS - Serbia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
AL - Albania 1
BD - Bangladesh 1
BG - Bulgaria 1
DZ - Algeria 1
EC - Ecuador 1
KZ - Kazakistan 1
LV - Lettonia 1
MA - Marocco 1
MT - Malta 1
MU - Mauritius 1
MY - Malesia 1
NG - Nigeria 1
NP - Nepal 1
PE - Perù 1
PY - Paraguay 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
Totale 13.511
Città #
Beijing 971
Chandler 884
Dublin 799
Ann Arbor 462
Houston 440
Villeurbanne 387
Princeton 331
Jacksonville 274
Medford 257
Vienna 219
Ashburn 200
Dearborn 194
Fairfield 187
Torino 179
Wilmington 174
Warsaw 159
Hangzhou 158
Nyköping 142
Woodbridge 102
Milan 98
Boston 97
Seattle 88
Brussels 72
Dong Ket 63
Redwood City 60
Cambridge 57
Fremont 53
Pisa 49
Boardman 42
Verona 42
Rome 37
Shanghai 29
Toronto 29
Falls Church 27
Norwalk 26
Hefei 21
Nanjing 21
New York 21
Turin 19
Guangzhou 18
Catania 17
Jinan 17
Nanchang 17
Kunming 16
Lachine 16
San Diego 16
Helsinki 15
Naples 15
Washington 15
Florence 14
Chengdu 13
Philadelphia 13
Istanbul 12
Mountain View 12
Phoenix 12
London 11
Silver Spring 11
Wuhan 11
Ankara 10
University Park 10
Waanrode 10
Fuzhou 9
Hebei 9
Ottawa 9
Padova 9
Paris 9
Taipei 9
Trieste 9
Bari 8
Milwaukee 8
Mumbai 8
Amsterdam 7
Bulandshahr 7
Chennai 7
Perth 7
Renton 7
Andover 6
Arquata 6
Changsha 6
Chicago 6
Des Moines 6
Gent 6
Nijmegen 6
Pune 6
Seoul 6
Tokyo 6
Tottori 6
Zhengzhou 6
Athens 5
Atlanta 5
Barcelona 5
Dallas 5
Düsseldorf 5
Jurdab 5
Lisbon 5
Lynchburg 5
Melbourne 5
San José 5
Santa Clara 5
Stuttgart 5
Totale 8.025
Nome #
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome 675
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 598
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 458
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 223
Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair 215
Analisi del profilo di trascrizione genetica nella sindrome di Noonan. 211
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 208
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 194
The KCNQ1OT1 Imprinting Control Region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. 177
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome 170
Transcriptional hallmarks of Noonan syndrome in peripheral blood mononuclear cells 152
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 149
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 129
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. 129
Molecular dissection of Noonan syndrome by transcriptiome analysis 124
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy 123
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability 120
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 116
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients 112
A rare craniosynostosis associated with an atypical 22q11 microdeletion 109
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 107
Clinical manifestations in a cohort of 32 children with 22q11 deletion syndrome 99
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 94
Lower extremity counterpart of the Poland syndrome. 89
An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient 88
Clinical and genetic aspects of Conradi-Hünermann disease. A report of three familial cases and review of the literature. 86
SOS1 mutations in Noonan syndrome:molecular spectrum, structural insights on pathogenic effects, andgenotype-phenotype correlations. 84
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 83
Heterotopic bone formation not related to PHO/FOP disease: a new entity 83
A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome. 81
Prevalence of beckwith-wiedemann syndrome in North West of Italy 81
Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome 80
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion. 80
Schinzel-Giedion syndrome with sacrococcygeal teratoma. 79
Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome 77
Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes. 77
Un caso particolare di duplicazione 10q prossimale 76
Iperammoniemia da shunt porto-cavale congenito in due fratelli con ritardo cognitivo e disturbi comportamentali 76
Sindrome di Van der Woude familiare ad alta variabilità clinica in quattro generazioni 75
Myhre syndrome. report of three unrelated patients 75
Clinical and molecular characterization of a cohort of 49 children affected by Beckwith-Wiedemann Syndrome and related congenital defects 75
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. 74
Four new cases of PHACES syndrome: variable phenotypic expression and endocrinefeatures 74
Prenatal features of Noonan syndrome: prevalence and prognostic value. 74
A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29 74
Identificazione di una delezione nel gene TCOF1 in pazienti con sindrome di Treacher-Collins-Franceschetti 72
Sindrome di Beckwith-Wiedemann: descrizione di due casi clinici. 72
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 71
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. 70
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. 70
Array-CGH analysis in a patient with Acrocallosal Syndrome 70
ARRAY-CGH analysis in 92 children with complex syndromic phenotype 69
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. 69
Craniostenosi complessa da riarrangiamento cromosomico subtelomerico 68
a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS. 67
Molecular and clinical characterization of 37 patients with Noonan syndrome 67
Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati 66
Un caso di nanismo disarmonico 66
Clinical and molecolar characterization of 40 patients with Noonan syndrome 66
Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor 65
Analisi molecolare Arrays-CGH in 36 pazienti con fenotipo sindromico complesso 64
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. 64
le anomalie dei capelli come segno di malattia mitocondriale 63
Right phrenic nerve palsy following transcatheter radiofrequency current atrial fibrillation ablation: Case report 63
Nuova mutazione del gene IRF6 in un caso familiare di sindrome di van der Wood 62
The overlap between Sotos and Beckwith-Wiedemann syndromes 62
Symbrachydactyly involving hands and feet. 61
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation 61
Eyebrow anomalies as a diagnostic sign of genomic disorders 61
Fontaine-Farriaux craniosynostosis: second report in the literature 61
Complex cerebral malformation including Dandy-Walker in a newborn with trisomy 9 mosaicism. 60
Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome? 60
A restricted spectrum of NRAS mutations causes Noonan syndrome 60
Cleft lip and palate associated with cervical aplasia cutis 60
Doppia Trisomia 60
A linkage study of Jeune syndrome : esclusion of candidate loci and homozygosity mapping 60
The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism 60
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome. 60
Incidence of Beckwith-Wiedemann syndrome 59
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation 58
Subcortical band heterotopia with simplified gyral pattern and syndactyly. 57
Truncus arteriosus and isochromosome 8q 57
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. 57
Sindrome da delezione subtelomerica 9q: un fenotipo caratteristico 55
Clinical Features and molecular aspects of 15 italian patients with Mowat-Wilson syndrome 54
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 54
[Oligodontia. A case report] 53
Reply to "Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor" 53
Riduzione dell'attività dell'arilsulfatasi B in pazienti affetti da fibrosi cistica 53
A new syndrome with ocular, skeletal and renal involvement 53
A 46,XY infant with uterus, dysgenetic gonads and multiple anomalies 53
Hair anomalies as a sign of mitochondrial disease. 53
A locus for Jeune asphyxiating thoracic dystrophy, JATD, maps to chromosome 15q13 51
A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait. 51
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? 51
Arrays-CGH analysis of 48 patients with complex phenotype 50
Sindrome di Dyggve-Melchior-Clausen. Descrizione di due nuovi casi clinici. (Dyggve-Melchior-Clausen syndrome. Report of two new cases). 50
Extreme clinical variability in Noonan syndrome with loose anagen hair due to Ser2Gly SHOC mutation 50
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2),and parastremmatic dysplasia are caused by TRPV4 mutations. 50
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene 49
Totale 9.734
Categoria #
all - tutte 34.873
article - articoli 0
book - libri 0
conference - conferenze 8.129
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 43.002


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019542 0 0 0 0 0 0 0 0 67 105 239 131
2019/20201.977 89 120 129 218 147 460 252 103 130 152 118 59
2020/20211.417 216 55 130 76 99 61 128 44 144 170 93 201
2021/20221.834 90 61 77 287 63 54 81 105 73 80 297 566
2022/20232.935 437 192 72 273 225 744 312 179 257 65 117 62
2023/2024702 170 167 49 68 59 78 41 51 19 0 0 0
Totale 14.078