IRIS
PIGNATA, Laura
 Distribuzione geografica
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Continente #
EU - Europa 240
NA - Nord America 164
AS - Asia 22
Totale 426
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Nazione #
US - Stati Uniti d'America 157
IE - Irlanda 119
IT - Italia 70
DE - Germania 16
GB - Regno Unito 10
CA - Canada 7
CN - Cina 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
EE - Estonia 1
IR - Iran 1
Totale 426
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Città #
Dublin 119
Chandler 33
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
Ashburn 2
Aversa 2
Benevento 2
Capua 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
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
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 314
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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 59
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance 42
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus 40
Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors 39
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy 33
Mosaic segmental and whole-chromosome upd(11)mat in silver-russell syndrome 31
Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c 30
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum 29
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 25
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 25
Epigenetic Alterations in Inborn Errors of Immunity 22
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 20
Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer 17
Epigenetics: An opportunity to shape innate and adaptive immune responses 15
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization 13
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development 13
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism? 7
Germline (epi)genetics reveals high predisposition in females: A 5-year, nationwide, prospective Wilms tumour cohort 1
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 1
Totale 462
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Categoria #
all - tutte 2.287
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 2.287
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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
2023/202495 8 6 8 15 29 10 12 3 3 1 0 0
Totale 462