CIRILLO, Margherita
 Distribuzione geografica
Continente #
NA - Nord America 4523
EU - Europa 3912
AS - Asia 2082
AF - Africa 49
SA - Sud America 31
OC - Oceania 21
Continente sconosciuto - Info sul continente non disponibili 3
Totale 10621
Nazione #
US - Stati Uniti d'America 4438
CN - Cina 1395
IT - Italia 970
FR - Francia 521
FI - Finlandia 449
SE - Svezia 435
KR - Corea 417
DE - Germania 388
UA - Ucraina 380
AT - Austria 221
PL - Polonia 168
GB - Regno Unito 162
VN - Vietnam 105
CA - Canada 68
IN - India 52
JP - Giappone 40
NL - Olanda 38
SN - Senegal 36
BE - Belgio 33
ES - Italia 33
BR - Brasile 24
PT - Portogallo 23
AU - Australia 19
CH - Svizzera 14
TR - Turchia 14
MX - Messico 13
DK - Danimarca 12
RU - Federazione Russa 12
GR - Grecia 11
TW - Taiwan 9
PK - Pakistan 8
ID - Indonesia 7
UZ - Uzbekistan 7
IE - Irlanda 6
NO - Norvegia 6
RO - Romania 6
BH - Bahrain 5
IR - Iran 5
AR - Argentina 4
CR - Costa Rica 4
EG - Egitto 4
HK - Hong Kong 4
LT - Lituania 4
ZA - Sudafrica 4
CZ - Repubblica Ceca 3
HR - Croazia 3
PH - Filippine 3
TH - Thailandia 3
CO - Colombia 2
EU - Europa 2
HU - Ungheria 2
LU - Lussemburgo 2
NZ - Nuova Zelanda 2
RS - Serbia 2
SG - Singapore 2
SI - Slovenia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
AL - Albania 1
BD - Bangladesh 1
BG - Bulgaria 1
CY - Cipro 1
DZ - Algeria 1
IL - Israele 1
IS - Islanda 1
KZ - Kazakistan 1
LV - Lettonia 1
MA - Marocco 1
MT - Malta 1
MU - Mauritius 1
MY - Malesia 1
NG - Nigeria 1
PY - Paraguay 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
Totale 10621
Città #
Beijing 969
Ann Arbor 462
Houston 439
Villeurbanne 387
Princeton 331
Chandler 306
Jacksonville 274
Medford 257
Vienna 218
Dearborn 194
Fairfield 187
Torino 179
Wilmington 174
Warsaw 159
Hangzhou 158
Woodbridge 102
Ashburn 95
Boston 95
Milan 84
Seattle 81
Dong Ket 63
Redwood City 60
Cambridge 57
Fremont 53
Pisa 49
Verona 38
Toronto 29
Falls Church 27
Norwalk 26
Shanghai 26
Rome 24
Hefei 21
Nanjing 21
Nyköping 18
Guangzhou 17
Jinan 17
Nanchang 17
Kunming 16
Lachine 16
San Diego 16
Brussels 13
Chengdu 13
Mountain View 12
Phoenix 12
Silver Spring 11
Wuhan 11
University Park 10
Waanrode 10
Fuzhou 9
Hebei 9
Ottawa 9
Taipei 9
Trieste 9
Bulandshahr 7
Mumbai 7
New York 7
Renton 7
Andover 6
Arquata 6
Changsha 6
Florence 6
Gent 6
London 6
Nijmegen 6
Seoul 6
Tottori 6
Zhengzhou 6
Athens 5
Chennai 5
Chicago 5
Dallas 5
Des Moines 5
Düsseldorf 5
Jurdab 5
Lisbon 5
Melbourne 5
Paris 5
Philadelphia 5
Santa Clara 5
Stuttgart 5
Tianjin 5
Tokyo 5
Atlanta 4
Bologna 4
Catania 4
Changchun 4
Clarks Summit 4
Dublin 4
Ferrara 4
Groningen 4
Indianapolis 4
Jakarta 4
La Riba 4
Lyndhurst 4
Modena 4
Napoli 4
Pavia 4
Pittsburgh 4
Porto 4
Redmond 4
Totale 6134
Nome #
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome 558
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 434
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
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 202
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 189
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
Analisi del profilo di trascrizione genetica nella sindrome di Noonan. 164
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
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
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy 112
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. 106
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability 104
Molecular dissection of Noonan syndrome by transcriptiome analysis 103
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 103
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
Clinical and genetic aspects of Conradi-Hünermann disease. A report of three familial cases and review of the literature. 81
Clinical manifestations in a cohort of 32 children with 22q11 deletion syndrome 75
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion. 75
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 73
Lower extremity counterpart of the Poland syndrome. 71
A rare craniosynostosis associated with an atypical 22q11 microdeletion 70
Sindrome di Van der Woude familiare ad alta variabilità clinica in quattro generazioni 67
Four new cases of PHACES syndrome: variable phenotypic expression and endocrinefeatures 66
Schinzel-Giedion syndrome with sacrococcygeal teratoma. 65
Heterotopic bone formation not related to PHO/FOP disease: a new entity 64
SOS1 mutations in Noonan syndrome:molecular spectrum, structural insights on pathogenic effects, andgenotype-phenotype correlations. 63
A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome. 61
Sindrome di Beckwith-Wiedemann: descrizione di due casi clinici. 60
Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome 59
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 59
Prevalence of beckwith-wiedemann syndrome in North West of Italy 59
Symbrachydactyly involving hands and feet. 58
Un caso particolare di duplicazione 10q prossimale 58
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
Right phrenic nerve palsy following transcatheter radiofrequency current atrial fibrillation ablation: Case report 56
An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient 55
The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism 55
Prenatal features of Noonan syndrome: prevalence and prognostic value. 54
Truncus arteriosus and isochromosome 8q 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
Fontaine-Farriaux craniosynostosis: second report in the literature 52
Subcortical band heterotopia with simplified gyral pattern and syndactyly. 51
Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor 50
Complex cerebral malformation including Dandy-Walker in a newborn with trisomy 9 mosaicism. 49
Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome? 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
Identificazione di una delezione nel gene TCOF1 in pazienti con sindrome di Treacher-Collins-Franceschetti 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
Clinical and molecular characterization of a cohort of 49 children affected by Beckwith-Wiedemann Syndrome and related congenital defects 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
[Oligodontia. A case report] 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
Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies. 44
Analisi molecolare Arrays-CGH in 36 pazienti con fenotipo sindromico complesso 44
Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati 44
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation 43
Doppia Trisomia 43
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation 43
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. 42
Nuova mutazione del gene IRF6 in un caso familiare di sindrome di van der Wood 42
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 42
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth 41
Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay and facial dysmorphism 41
Hall-Riggs syndrome: a possible second affected family? 41
Sindrome di smith-Lemli-Opitz e malattia di Hirschsprung: una associazione non frequente 41
Un caso di nanismo disarmonico 41
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. 40
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum 40
Incidence of Beckwith-Wiedemann syndrome 40
Extreme clinical variability in Noonan syndrome with loose anagen hair due to Ser2Gly SHOC mutation 40
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. 39
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome 38
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome 38
Arrays-CGH analysis of 48 patients with complex phenotype 38
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. 38
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene 38
Clinical Features and molecular aspects of 15 italian patients with Mowat-Wilson syndrome 38
Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings 38
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? 38
The phenotype of recurrent 10q22q23 deletions and duplications. 38
The overlap between Sotos and Beckwith-Wiedemann syndromes 38
Hair anomalies as a sign of mitochondrial disease. 38
Totale 7659
Categoria #
all - tutte 14907
article - articoli 0
book - libri 0
conference - conferenze 3547
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 18454


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/20181815 0000 051 48423 8533395843
2018/20191303 755212276 45122 72197 67105239131
2019/20201977 89120129218 147460 252103 13015211859
2020/20211417 2165513076 9961 12844 14417093201
2021/20221834 906177287 6354 81105 7380297566
2022/2023747 4371927246 00 00 0000
Totale 11188