GILIANI, SILVIA CLARA
 Distribuzione geografica
Continente #
NA - Nord America 9.151
EU - Europa 3.590
AS - Asia 2.114
OC - Oceania 18
AF - Africa 11
SA - Sud America 8
Continente sconosciuto - Info sul continente non disponibili 5
Totale 14.897
Nazione #
US - Stati Uniti d'America 9.137
CN - Cina 1.357
UA - Ucraina 1.059
DE - Germania 563
IT - Italia 521
PL - Polonia 421
HK - Hong Kong 385
FI - Finlandia 314
GB - Regno Unito 246
SG - Singapore 225
IE - Irlanda 197
FR - Francia 98
SE - Svezia 47
IN - India 38
TR - Turchia 30
VN - Vietnam 27
NL - Olanda 26
ES - Italia 24
KR - Corea 24
RU - Federazione Russa 23
BE - Belgio 21
AU - Australia 18
CA - Canada 14
IR - Iran 10
JP - Giappone 8
MU - Mauritius 7
BR - Brasile 5
CH - Svizzera 5
EU - Europa 5
RO - Romania 5
CZ - Repubblica Ceca 3
KZ - Kazakistan 3
LA - Repubblica Popolare Democratica del Laos 3
LU - Lussemburgo 3
DK - Danimarca 2
GR - Grecia 2
MA - Marocco 2
PE - Perù 2
TH - Thailandia 2
AT - Austria 1
BA - Bosnia-Erzegovina 1
BN - Brunei Darussalam 1
EE - Estonia 1
EG - Egitto 1
FK - Isole Falkland (Malvinas) 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
IS - Islanda 1
MD - Moldavia 1
MK - Macedonia 1
RS - Serbia 1
SC - Seychelles 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 14.897
Città #
Fairfield 1.464
Woodbridge 1.122
Houston 834
Jacksonville 799
Ashburn 674
Ann Arbor 597
Seattle 570
Cambridge 568
Wilmington 471
Warsaw 421
Chandler 407
Hong Kong 384
Princeton 350
Nanjing 258
Beijing 227
Dublin 197
New York 195
Helsinki 186
Brescia 182
Singapore 126
Nanchang 104
Dearborn 103
Shenyang 95
Changsha 88
Jinan 80
Des Moines 75
Shanghai 71
San Diego 65
Tianjin 62
Hebei 59
Milan 56
Jiaxing 51
Lancaster 47
London 39
Kunming 34
Ningbo 31
Hangzhou 29
Haikou 28
San Francisco 27
Verona 27
Dong Ket 26
Zhengzhou 24
Boardman 22
Lanzhou 22
Assemini 21
Kocaeli 20
Seongnam 19
Brussels 18
Norwalk 16
Guangzhou 15
Redwood City 14
Taiyuan 14
Hefei 12
Rome 12
Taizhou 12
Kilburn 11
New Bedfont 9
Toronto 9
Arezzo 8
Trieste 7
Changchun 6
Chiyoda-ku 6
Fuzhou 6
Leawood 6
Melbourne 6
Pune 6
Redmond 6
Stuttgart 6
Acton 5
Amsterdam 5
Ardabil 5
Barcelona 5
Casoria 5
Como 5
Florence 5
Lappeenranta 5
Mumbai 5
Munich 5
Orange 5
Sydney 5
Adelaide 4
Augusta 4
Cantù 4
Gunzenhausen 4
Murcia 4
Napoli 4
North York 4
Nürnberg 4
Prescot 4
Santiago De Compostela 4
Southwark 4
Aubervilliers 3
Auburn Hills 3
Brno 3
Brooklyn 3
Chiswick 3
Frankfurt am Main 3
Islington 3
Leipzig 3
Lincoln 3
Totale 11.693
Nome #
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP 287
iPSC-DERIVED NEURAL STEM CELLS CULTURED ON ENGINEERED SUBSTRATES AS AN IN VITRO MODEL FOR AICARDI-GOUTIÈRES SYNDROME 176
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? 161
Wiskott–Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma 160
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 153
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. 151
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease 146
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 136
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype. 135
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. 132
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 131
Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression 128
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay 127
Next Generation Sequencing Analysis in Early Onset Dementia Patients 122
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome 121
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. 117
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias 117
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency 117
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation 117
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 116
CD40 and CD40 Ligand Deficiencies 115
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience 115
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. 114
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects 113
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. 112
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis 111
IPSC-DERIVED NEURONS AS AN IN VITRO MODEL FOR THE STUDY OF INTERFERONOPATHIES WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT 110
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. 109
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia 109
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation. 108
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency 108
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. 107
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia 107
Patients' induced pluripotent stem cells to model drug induced adverse events: a role in predicting thiopurine induced pancreatitis? 107
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content. 106
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment 106
First report of successful stem cell transplantation in a child with CD40 deficiency 105
Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort 105
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? 105
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia 104
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actincytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding 104
Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children. 104
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization 103
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency 103
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. 102
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency. 102
Clinical and molecular features of X-linked hyper IgM syndrome – An experience from North India 102
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells. 101
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 100
Production of Micro-patterned Substrates to Direct Human iPSCs-derived Neural Stem Cells Orientation and Interaction 100
Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency. 99
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications 99
A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency 98
A novel mutation in the POLE2 gene causing combined immunodeficiency 98
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. 97
Primary immunodeficiency mutation databases 97
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). 97
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 97
Defect of regulatory T cells in patients with Omenn syndrome 97
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency 97
Prenatal diagnosis of JAK3 deficient SCID. 96
The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies. 95
Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn. 94
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 94
Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation 94
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 93
Partial V(D)J recombination activity leads to Omenn syndrome 93
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. 93
The Wiskott-Aldrich syndrome: From genotype-phenotype correlation to treatment 93
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects 93
Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face? 93
Immunodeficiencies due to defects of class-switch recombination. 92
A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency. 91
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. 91
Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies. 91
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies 91
Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: Report of the italian primary immunodeficiency network 91
Damaging-agent sensitivity of Artemis-deficient cell lines 90
Cytokine-mediated signalling and early defects in lymphoid development 90
Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". 89
Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency. 89
DISCRIMINATION AMONG MONOGENIC AND ACQUIRED DISEASE WITH INFLAMMATORY AND AUTOIMMUNE COMPONENT THROUGH THE IN VITRO STUDY OF SIGNAL TRANSDUCERS OF TYPE I INTERFERON 89
Carbonization of polymer precursors substrates to direct human iPSC-derived neurons differentiation and maturation 89
The genomic organization of the human transcription factor 3 (TFE3) gene. 88
Omenn syndrome in an infant with IL7RA gene mutation 87
Homozygous DNA Ligase IV R278H Mutation in Mice Leads to Leaky Scid and Represents A Model For Human LIG4 Syndrome 87
Reduced thymic output, cell cycle abnormalities, and increasedapoptosis of T lymphocytes in patients with cartilage-hair hypoplasia 86
MECHANISMS OF PRIMARY IMMUNODEFICIENCIES: FROM BED-SIDE TO BENCH AND BACK 85
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome 85
Novel presentation of Omenn syndrome in association with aniridia. 85
Heterozygous mutation in adenosine deaminase gene in a patient with severe lymphopenia following corticosteroid treatment of autoimmune hemolytic anemia 85
MUTATION ANALYSIS BY A NON-RADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM ASSAY IN NINE FAMILIES WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDX1). 84
Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA 84
Report of the ESID collaborative study on clinical features and molecular analysis in X-LINKED HYPER-IgM syndrome 82
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency 82
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hot spots, effect on transcription and translation and phenotype/genotype correlation. 80
Selective laser melting and electron beam melting of Ti6Al4V for orthopedic applications: A comparative study on the applied building direction 80
Aicardi Goutieres Syndrome: New Insights on a Novel Set of Inborn Errors of Immunity 79
Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation. 78
A case of lymphoproliferative disease presenting with a clinical and immunological phenotype of common variable immunodeficiency. 77
Totale 10.551
Categoria #
all - tutte 72.889
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 72.889


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204.352 568 123 150 502 257 480 451 465 288 703 121 244
2020/20212.847 57 300 99 343 180 363 109 356 326 316 282 116
2021/20221.502 95 275 44 94 14 55 98 94 90 177 130 336
2022/20231.325 205 16 33 73 149 349 12 136 189 17 66 80
2023/20241.711 88 29 152 183 86 307 70 80 412 17 50 237
2024/202513 13 0 0 0 0 0 0 0 0 0 0 0
Totale 15.350