IRIS
PIGNATA, CLAUDIO
 Distribuzione geografica
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Continente #
NA - Nord America 5.125
EU - Europa 3.008
AS - Asia 1.040
AF - Africa 74
SA - Sud America 23
Continente sconosciuto - Info sul continente non disponibili 11
OC - Oceania 7
Totale 9.288
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Nazione #
US - Stati Uniti d'America 5.010
IT - Italia 1.144
CN - Cina 721
IE - Irlanda 391
UA - Ucraina 342
DE - Germania 339
FI - Finlandia 328
NL - Olanda 176
VN - Vietnam 160
CA - Canada 113
SE - Svezia 95
GB - Regno Unito 82
CI - Costa d'Avorio 66
IN - India 59
FR - Francia 51
TR - Turchia 51
IR - Iran 15
AR - Argentina 13
EU - Europa 11
RO - Romania 9
AL - Albania 8
BE - Belgio 8
AU - Australia 7
BR - Brasile 7
EG - Egitto 7
HK - Hong Kong 7
SG - Singapore 7
DK - Danimarca 5
ES - Italia 5
KR - Corea 5
PL - Polonia 5
SI - Slovenia 5
CH - Svizzera 4
CO - Colombia 3
SA - Arabia Saudita 3
BG - Bulgaria 2
GR - Grecia 2
IL - Israele 2
JP - Giappone 2
MX - Messico 2
MY - Malesia 2
PH - Filippine 2
PT - Portogallo 2
RU - Federazione Russa 2
AE - Emirati Arabi Uniti 1
ID - Indonesia 1
LT - Lituania 1
MN - Mongolia 1
MT - Malta 1
SM - San Marino 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 9.288
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Città #
Chandler 1.102
Jacksonville 376
Millbury 375
Princeton 337
Nanjing 240
Boston 191
Ashburn 189
Wilmington 183
Amsterdam 161
Dong Ket 160
Beijing 151
Woodbridge 127
Napoli 109
Ottawa 107
Houston 101
Naples 98
Ann Arbor 80
Des Moines 76
Nanchang 74
Falls Church 53
Shenyang 51
Hebei 49
Cagliari 48
Norwalk 46
Pune 45
Rome 41
Jiaxing 34
Lawrence 33
Tianjin 28
Changsha 27
Milan 25
Boardman 24
Dublin 22
Seattle 22
Bologna 20
Dearborn 20
Kronberg 19
Nocera Inferiore 19
Indiana 17
Kunming 17
Orange 17
Florence 16
Redwood City 14
Como 13
Mountain View 13
San Mateo 12
Changchun 11
Fairfield 10
Los Angeles 10
Padova 9
Turin 9
Augusta 8
Castellana Grotte 8
Lanzhou 8
Mcallen 8
New York 8
Simi Valley 8
Tirana 8
Ardabil 7
Hangzhou 7
Neenah 7
Redmond 7
Brescia 6
Cambridge 6
Catania 6
Hong Kong 6
Leawood 6
Parma 6
Trieste 6
Verona 6
Fremont 5
Hanover 5
Palermo 5
Sydney 5
Tappahannock 5
Waanrode 5
Benevento 4
Dallas 4
London 4
L’Aquila 4
Marigliano 4
Montemarciano 4
Osimo 4
Salerno 4
San Giorgio a Cremano 4
Torino 4
Cairo 3
Campobasso 3
Cesano Maderno 3
Council Bluffs 3
Felegara 3
Gorle 3
Jinan 3
Lissone 3
Lonate Pozzolo 3
Marsala 3
Montecorvino Rovella 3
Montesarchio 3
Riyadh 3
San Francisco 3
Totale 5.275
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Nome #
La mutazione del gene FOXN1 associata al fenotipo NUDE/SCID previene completamente il differenziamento dei linfociti CD4, ma non dei CD8. 291
Epilessia frontale con bisincronismo secondario in encefalopatia perinatale 254
DiGeorge-like syndrome in a child with a 3p12.3 deletion involving miRNA-4273 born to a diabetic mother 101
Implicazioni di mutazioni del gene gamma, responsabili di fenotipi umani SCID-X1, sull'apparato di signaling del recettore per il GH 93
Analisi di processi di fosforilazione in tirosina in soggetti con immunodeficit T da difetto di attivazione linfocitaria 73
Intrathecal amphotericin B therapy in a patient with X-linked chronic granulomatous disease and refractory cerebral invasive aspergillosis 70
TLR9 signaling in patients with ectodermal dysplasia and immunodeficiency associated with Nuclear Factor Essential Modulator (NEMO) mutations 68
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 68
Aberrant autophagic vesicles in the lymphocytes from patients affected with Ataxia-Telangiectasia 66
Assessment of nutritional status in agammaglobulinemia: results of a multicenter study 62
Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome 60
Chronic mucocutaneous candidiasis, recurrent herpetic infections and suppurative eyelid infections in a patient carrying a novel gain-of-function mutation in the STAT1 DNA-binding domain 58
Thymic stromal alterations and genetic disorders of immune system 56
Humoral alteration in 22q11.2 deletion syndrome patients 55
GH-induced signaling and STAT5b nuclear translocation in control or X-SCID EBV cell lines. 54
Novel STAT1 gain of function mutation and suppurative infections 54
Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels 54
Transduction of ?-X-SCID EBV cells with type? C gene restores GH-induced STAT5 phosphorylation. 53
Brain migration disorder and T-cell activation deficiency associated with abnormal signaling through TCR/CD3 complex and hyperactivity of Fyn tyrosine kinase. 53
Altered signaling through IL-12 receptor in children with very high serum IgE levels 53
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease 52
Gamma chain is prominently overexpressed in B-pre acute lymphoblastic leukemia cells 52
Primary immunodeficiencies: the tip of an iceberg? 52
Cutaneous manifestations as presenting sign of autoimmune lymphoproliferative syndrome in childhood 52
Networking between γc and GH-R signaling in the control of cell growth 52
Unraveling the link between ectodermal disorders and primary immunodeficiencies 51
De novo 13q12.3q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia and cerebellar hypoplasia, mimicking an A-T like phenotype. 51
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 50
Comparazione del blocco ontogenetico T nei due modelli umani di ATIMIA NUDE/SCID e DI GEORGE e allestimento di uno “Scaffold” tridimensionale per la generazione in vitro di cellule T da precursori ematopoietici in assenza di timo. 50
La Sindrome Nude/SCID: dal modello murino al fenotipo umano 50
DiGeorge-like Syndrome in a Child with a 3p12.3 Deletion Involving MIR4273 Gene Born to a Mother with Gestational Diabetes Mellitus 50
Otolarylogical features in a cohort of patients affected with 22q11.2 deletion syndrome: a monocentric survey 50
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects 49
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation 49
Altered expression of IL-12 receptor in children with very high serum IgE levels. 49
Severe protracted intestinal cryptosporidiosis associated with interferon g deficiency: pediatric case report. 49
Functional interaction of common gamma-chain and growth hormone receptor signaling apparatus. 48
Diagnostics of Primary immunodeficiencies through next-generation sequencing 46
Role of Ala91Val mutation in perforin gene in haemophagocytic lymphohistiocytosis. 45
Evaluation of functional interaction between the common gamma chain and growth hormone receptor using a neutralization assay. 44
T-cell activation deficiency associated with an aberrant pattern of protein tyrosine phosphorylation following CD3 perturbation in Down's syndrome. 44
A lesson for unraveling complex aspects of novel immunodeficiencies from the human equivalent of the nude/SCID phenotype. 43
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy syndrome 43
Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 Deletion Syndrome 43
Challenges in investigating patients with isolated decreased serum IgM: The SIMcal study 43
Subcutaneous Immunoglobulin Twenty Percent Every Two Weeks in Pediatric Patients with Primary Immunodeficiencies: Subcohort Analysis of the IBIS Study 43
Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation. 42
Abnormal tyrosine phosphorylated 30 kDa protein in a patient with immunodeficiency and severe encephalopathy associated with a constitutive activation of the MAPK cascade. 42
Unbalanced Immune System: Immunodeficiencies and Autoimmunity 42
Severe combined immunodeficiency-an update 41
Recommendations regarding splenectomy in hereditary hemolytic anemias 41
Identification and functional characterization of patients with autoimmunity associated with functional immunodeficiency. 40
Abnormal GH receptor signaling in children with idiopathic short stature. 40
Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia 40
Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children 40
Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia 39
Nail dystrophy associated with heterozygous mutation of the Nude/SCID FOXN1 (WHN) gene. 38
Severe protracted intestinal cryptosporidiosis associated with interferon g deficiency: pediatric case report. 38
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective. 38
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand 38
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches 38
CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations 38
L' apoptosi nella fisiologia della risposta immune e sue alterazioni nella patogenesi di quadri di patologia complessa. 37
A91V perforin variation in healthy subjects and FHLH patients 37
Functional interaction of common gamma chain and growth hormone receptor signaling apparatus 37
Analisi dell’ alterazione dei meccanismi di tolleranza periferica associata ad alta variabilità fenotipica. 37
Complement system network in cell physiology and in human diseases 37
Nuove immunodeficienze congenite: forme con aumentata suscettibilita' a contrarre infezioni da germi intracellulari o da micobatteri e salmonelle. 36
High-content cytometry and transcriptomic biomarker profiling of human B-cell activation 36
Long-Term Follow-Up and Outcome of a Large Cohort of Patients with Common Variable Immunodeficiency. 36
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus 36
Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task. 36
Phenotypic characterization and outcome of paediatric patients affected with haemophagocytic syndrome of unknown genetic cause. 36
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world 36
Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network 36
In Ataxia-Telangiectasia, Oral Betamethasone Administration Ameliorates Lymphocytes Functionality through Modulation of the IL-7/IL-7Rα Axis Paralleling the Neurological Behavior: A Comparative Report of Two Cases 36
Shared signaling pathways between endocrine and immune system receptors: the model of gamma chain. 35
From murine to human Nude/SCID: the thymus, T-cell development and the missing link. 35
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature 35
Novel Findings into AIRE Genetics and Functioning: Clinical Implications 35
DiGeorge Syndrome 35
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 34
Significant expansion of TCR gamma/delta+ CD4 and CD8 double negative (DN) T cells and aftous stomatitis resistant to therapy: clinical report. 34
3-dimensional poly(3-caprolactone) scaffold containing skin-derived fibroblasts and keratinocytes supports in vitro HSCs differentiation in T-lineage-committed cells 34
FOXN1 in cell development and human diseases 34
Immunodeficienze primitive: cosa c’è di nuovo 34
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype 34
Search for poliovirus long-term excretors among patients affected by agammaglobulinemia 33
Analisi della trasduzione del segnale via GHR in linee cellulari EBV di pazienti affetti da X-SCID e controlli. 33
Prolonged Q-T interval syndrome presenting as idiopathic epilepsy. 33
Bruton’s disease: 2 unrelated patients with atypic immunological phenotype. 33
A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype 33
APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors. 33
NADPH Oxidase Deficiency: A Multisystem Approach 33
Novel immunodeficiencies: clustering of distinct autoimmune disorders associated to monogenic alterations. 32
Exposing the human nude-fenotype. 32
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management, and outcome of the disease. 32
Chronic unexplained liver disease in children with primary immunodeficiency syndromes 32
Betamethasone therapy in Ataxia-Telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis 32
Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model 32
Totale 4.892
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Categoria #
all - tutte 37.793
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 37.793
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201946 0 0 0 0 0 0 0 0 0 0 21 25
2019/20201.189 485 3 71 25 89 26 19 16 25 80 181 169
2020/20211.089 35 83 91 94 102 145 85 18 93 16 133 194
2021/20222.031 35 3 21 18 20 74 27 67 436 126 346 858
2022/20232.409 410 276 63 203 281 275 30 185 339 191 118 38
2023/20241.067 54 228 124 91 74 131 34 215 44 72 0 0
Totale 9.731