IRIS
PIGNATA, Laura
 Distribuzione geografica
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Continente #
EU - Europa 248
NA - Nord America 165
AS - Asia 51
Totale 464
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Nazione #
US - Stati Uniti d'America 158
IE - Irlanda 119
IT - Italia 74
SG - Singapore 20
CN - Cina 16
DE - Germania 16
GB - Regno Unito 12
CA - Canada 7
IN - India 7
FR - Francia 6
NL - Olanda 5
PK - Pakistan 5
SE - Svezia 5
BE - Belgio 3
AT - Austria 2
GR - Grecia 2
HK - Hong Kong 2
CH - Svizzera 1
CZ - Repubblica Ceca 1
EE - Estonia 1
FI - Finlandia 1
IR - Iran 1
Totale 464
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Città #
Dublin 119
Chandler 33
Singapore 13
Bremen 12
Caserta 9
Napoli 8
Princeton 8
Roxbury 8
Delhi 7
Elora 7
Jacksonville 7
Santa Maria Capua Vetere 7
Cambridge 6
New York 6
Amsterdam 5
Boardman 5
Des Moines 4
Afragola 3
Beijing 3
Boydton 3
Brussels 3
Gragnano 3
Marseille 3
Terzigno 3
Ashburn 2
Aversa 2
Benevento 2
Capua 2
Greenwich 2
Hong Kong 2
Medford 2
Pievepelago 2
Redmond 2
Vienna 2
Angri 1
Ann Arbor 1
Barano d'Ischia 1
Basel 1
Berlin 1
Brindisi 1
Brno 1
Carmignano di Brenta 1
Dadu 1
Frankfurt am Main 1
Fuzhou 1
Gricignano di Aversa 1
Hefei 1
Jinan 1
Jõgeva 1
Kunming 1
Köthen 1
Lappeenranta 1
Lissone 1
L’Aquila 1
Marina di Camerota 1
Naples 1
Pozzuoli 1
Redwood City 1
San Francisco 1
Sant'Antonio Abate 1
Tappahannock 1
Thorigny 1
Trieste 1
Wilmington 1
Totale 335
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Nome #
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
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
Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors 41
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy 35
Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c 33
Mosaic segmental and whole-chromosome upd(11)mat in silver-russell syndrome 32
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum 30
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
Epigenetic Alterations in Inborn Errors of Immunity 23
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
Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer 18
Epigenetics: An opportunity to shape innate and adaptive immune responses 17
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development 15
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism? 14
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization 14
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 4
Germline (epi)genetics reveals high predisposition in females: A 5-year, nationwide, prospective Wilms tumour cohort 3
Totale 500
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Categoria #
all - tutte 2.660
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 2.660
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202024 3 0 2 1 0 1 5 9 2 1 0 0
2020/202118 1 0 0 1 0 0 8 0 1 3 3 1
2021/202262 0 0 9 1 12 0 3 0 4 8 9 16
2022/2023260 20 0 2 31 35 13 5 9 110 6 16 13
2023/2024132 8 6 8 15 29 10 12 3 3 1 9 28
2024/20251 1 0 0 0 0 0 0 0 0 0 0 0
Totale 500