IRIS
SPARAGO, ANGELA
 Distribuzione geografica
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Continente #
EU - Europa 862
NA - Nord America 835
AS - Asia 149
OC - Oceania 1
Totale 1.847
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Nazione #
US - Stati Uniti d'America 799
IE - Irlanda 312
IT - Italia 164
GB - Regno Unito 110
UA - Ucraina 92
DE - Germania 76
CN - Cina 64
SG - Singapore 37
CA - Canada 36
GR - Grecia 24
FI - Finlandia 23
SE - Svezia 23
KR - Corea 14
BE - Belgio 13
TR - Turchia 12
IN - India 7
PK - Pakistan 7
CZ - Repubblica Ceca 6
NL - Olanda 5
FR - Francia 4
RU - Federazione Russa 4
AT - Austria 2
CH - Svizzera 2
HK - Hong Kong 2
VN - Vietnam 2
EE - Estonia 1
IR - Iran 1
JP - Giappone 1
NZ - Nuova Zelanda 1
RO - Romania 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 1.847
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Città #
Dublin 312
Chandler 177
Jacksonville 155
Ann Arbor 55
Bremen 38
Elora 36
Princeton 36
Medford 29
Singapore 26
Roxbury 25
Caserta 24
Napoli 22
Boardman 20
Beijing 19
Wilmington 16
Brussels 13
Des Moines 13
Haeundae-gu 13
San Mateo 13
Woodbridge 13
Pozzuoli 10
Los Angeles 9
New York 9
Cambridge 7
Brno 6
Jinan 6
Mountain View 6
Acerra 5
Amsterdam 5
Delhi 5
Houston 5
Santa Maria Capua Vetere 5
Moscow 4
Palatine 4
Athens 3
Cinisello Balsamo 3
Gragnano 3
Nanjing 3
Terzigno 3
Afragola 2
Ashburn 2
Aversa 2
Brindisi 2
Capua 2
Dadu 2
Desio 2
Diyarbakır 2
Düsseldorf 2
Genova 2
Greenwich 2
Hangzhou 2
Hebei 2
Hong Kong 2
Lanzhou 2
Marseille 2
Nanchang 2
Norwalk 2
Pievepelago 2
Pomigliano D'arco 2
Redmond 2
Stella Cilento 2
Zhengzhou 2
Angri 1
Ansan-si 1
Arad 1
Auckland 1
Barano d'Ischia 1
Basel 1
Benevento 1
Berlin 1
Capaccio 1
Carmignano di Brenta 1
Centro 1
Changsha 1
Clearwater 1
Frankfurt am Main 1
Fuzhou 1
Geneva 1
Gricignano di Aversa 1
Guangzhou 1
Haikou 1
Hefei 1
Helsinki 1
Jaipur 1
Jõgeva 1
Kunming 1
Köthen 1
Lissone 1
London 1
L’Aquila 1
Marina di Camerota 1
Naples 1
Ningbo 1
Paris 1
Pune 1
Puxian 1
Redwood City 1
Saint Louis 1
San Francisco 1
San Mango 1
Totale 1.240
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Nome #
Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer 80
Beckwith-Wiedemann syndrome. Clinical and etiopathogenic aspects of a model genomic imprinting entity 77
DNA Methylation in the Diagnosis of Monogenic Diseases 76
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith - Wiedemann syndrome and Wilms' tumour 75
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family 70
Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1 [*Esposito S, *Baglivo I, co-first authors] 69
Is ZFP57 binding to H19/IGF2: IG-DMR affected in Silver-Russell syndrome? 67
Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop 66
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome 64
The KCNQ1OT1 imprinting control region and non-coding RNA: New properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases 63
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype 62
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome 61
Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1 60
ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells 59
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour 57
ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells 56
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome 55
Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor - Reply 52
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction 48
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation 47
MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment 46
Familial posterior helical ear pits 45
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites 44
Inherited and sporadic epimutations at the IGF2-H19 locus in beckwith-wiedemann syndrome and wilms' tumor 44
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype 44
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 43
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus 42
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice 41
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes 37
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy 35
The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster 33
Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c 33
The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus 32
Mosaic segmental and whole-chromosome upd(11)mat in silver-russell syndrome 32
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 26
The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model 26
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances 22
Two cases of misinterpretation of molecular results in incontinentia pligmenti, and a PCR-based method to discriminate NEMO/IKK gamma gene deletion 22
Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer 18
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development 15
Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity 15
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism? 14
Totale 1.973
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Categoria #
all - tutte 7.701
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 7.701
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020184 34 26 4 3 27 3 41 15 12 12 7 0
2020/2021258 22 11 28 17 39 6 37 24 4 33 27 10
2021/2022272 16 2 12 3 80 1 7 12 7 42 29 61
2022/2023735 96 3 4 86 75 61 4 43 311 10 20 22
2023/2024274 25 15 12 24 78 34 10 7 3 1 18 47
2024/20256 6 0 0 0 0 0 0 0 0 0 0 0
Totale 1.973