IRIS Institutional Research Information System - OPENBS Open Archive UniBS

GILIANI, SILVIA CLARA
 Distribuzione geografica
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Continente #
NA - Nord America 9.768
EU - Europa 4.261
AS - Asia 3.545
SA - Sud America 50
OC - Oceania 19
AF - Africa 17
Continente sconosciuto - Info sul continente non disponibili 6
Totale 17.666
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Nazione #
US - Stati Uniti d'America 9.736
CN - Cina 1.397
UA - Ucraina 1.065
SG - Singapore 1.016
HK - Hong Kong 740
IT - Italia 710
DE - Germania 662
PL - Polonia 423
FI - Finlandia 335
GB - Regno Unito 264
RU - Federazione Russa 230
TR - Turchia 218
IE - Irlanda 202
FR - Francia 119
NL - Olanda 55
SE - Svezia 51
IN - India 41
BR - Brasile 40
ES - Italia 30
AT - Austria 28
VN - Vietnam 28
BE - Belgio 26
KR - Corea 25
CA - Canada 20
ID - Indonesia 20
AU - Australia 18
IR - Iran 12
JP - Giappone 11
CH - Svizzera 10
MX - Messico 9
CZ - Repubblica Ceca 8
LA - Repubblica Popolare Democratica del Laos 8
MU - Mauritius 7
GR - Grecia 6
KG - Kirghizistan 6
DK - Danimarca 5
EU - Europa 5
LT - Lituania 5
RO - Romania 5
KZ - Kazakistan 4
LU - Lussemburgo 4
MA - Marocco 4
PE - Perù 4
EE - Estonia 3
EG - Egitto 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
EC - Ecuador 2
HR - Croazia 2
JM - Giamaica 2
MD - Moldavia 2
NO - Norvegia 2
PH - Filippine 2
PY - Paraguay 2
TH - Thailandia 2
ZA - Sudafrica 2
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
BN - Brunei Darussalam 1
FK - Isole Falkland (Malvinas) 1
GE - Georgia 1
HU - Ungheria 1
IL - Israele 1
IQ - Iraq 1
IS - Islanda 1
KH - Cambogia 1
LV - Lettonia 1
MK - Macedonia 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PA - Panama 1
PT - Portogallo 1
RS - Serbia 1
SA - Arabia Saudita 1
SC - Seychelles 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
UZ - Uzbekistan 1
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 17.666
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Città #
Fairfield 1.464
Woodbridge 1.122
Houston 836
Jacksonville 799
Hong Kong 738
Ashburn 690
Singapore 605
Ann Arbor 597
Seattle 570
Cambridge 568
Wilmington 474
Warsaw 422
Chandler 407
Princeton 350
Nanjing 258
Beijing 228
Brescia 206
Helsinki 206
Dublin 202
New York 200
Istanbul 187
Des Moines 135
Nanchang 104
Dearborn 103
Shenyang 95
Moscow 89
Changsha 88
Milan 81
Jinan 80
Shanghai 72
San Diego 65
Tianjin 64
Hebei 59
Jiaxing 51
Lancaster 47
London 44
The Dalles 42
Munich 40
Kunming 34
Los Angeles 32
Ningbo 31
Hangzhou 29
Haikou 28
San Francisco 28
Verona 27
Chicago 26
Dong Ket 26
Nuremberg 26
Zhengzhou 24
Brussels 23
Lanzhou 23
Boardman 22
Assemini 21
Jakarta 20
Kocaeli 20
Seongnam 19
Düsseldorf 18
Frankfurt am Main 17
Trieste 17
Norwalk 16
Romola 16
Guangzhou 15
Salò 15
Vienna 15
Redwood City 14
Taiyuan 14
Hefei 12
Rome 12
Taizhou 12
Kilburn 11
Toronto 11
Barcelona 9
New Bedfont 9
Amsterdam 8
Arezzo 8
Vientiane 8
Zurich 8
Pisogne 7
Salt Lake City 7
Sommacampagna 7
Tampa 7
Amato 6
Bishkek 6
Changchun 6
Chiyoda-ku 6
Fuzhou 6
Lappeenranta 6
Lauterbourg 6
Leawood 6
Melbourne 6
Mexico City 6
Portsmouth 6
Pune 6
Redmond 6
Southwark 6
Stuttgart 6
Acton 5
Ardabil 5
Buffalo 5
Casoria 5
Totale 13.250
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Nome #
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP 305
iPSC-DERIVED NEURAL STEM CELLS CULTURED ON ENGINEERED SUBSTRATES AS AN IN VITRO MODEL FOR AICARDI-GOUTIÈRES SYNDROME 191
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? 179
Wiskott–Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma 170
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 166
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. 162
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 162
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease 157
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 153
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 150
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. 147
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype. 146
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay 140
Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression 138
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome 137
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation 131
Next Generation Sequencing Analysis in Early Onset Dementia Patients 131
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 129
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. 128
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias 128
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency 127
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience 127
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 125
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia 125
IPSC-DERIVED NEURONS AS AN IN VITRO MODEL FOR THE STUDY OF INTERFERONOPATHIES WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT 125
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. 124
CD40 and CD40 Ligand Deficiencies 123
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects 123
First report of successful stem cell transplantation in a child with CD40 deficiency 121
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. 120
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation. 120
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency 120
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. 117
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency 117
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications 117
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis 115
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency 115
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency. 114
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. 113
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 113
Patients' induced pluripotent stem cells to model drug induced adverse events: a role in predicting thiopurine induced pancreatitis? 113
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. 113
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? 113
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment 113
A novel mutation in the POLE2 gene causing combined immunodeficiency 113
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia 112
Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children. 111
Clinical and molecular features of X-linked hyper IgM syndrome – An experience from North India 111
Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort 111
Eye model for floaters’ studies: production of 3D printed scaffolds 110
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization 110
Carbonization of polymer precursors substrates to direct human iPSC-derived neurons differentiation and maturation 110
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia 109
A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency 109
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 108
Production of Micro-patterned Substrates to Direct Human iPSCs-derived Neural Stem Cells Orientation and Interaction 108
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells. 107
Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency. 106
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. 106
The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies. 106
DISCRIMINATION AMONG MONOGENIC AND ACQUIRED DISEASE WITH INFLAMMATORY AND AUTOIMMUNE COMPONENT THROUGH THE IN VITRO STUDY OF SIGNAL TRANSDUCERS OF TYPE I INTERFERON 106
Primary immunodeficiency mutation databases 105
Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face? 105
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects 104
A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency. 103
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 103
Defect of regulatory T cells in patients with Omenn syndrome 103
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. 103
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. 102
Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". 102
Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn. 102
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). 102
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 102
Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation 102
Prenatal diagnosis of JAK3 deficient SCID. 101
Partial V(D)J recombination activity leads to Omenn syndrome 101
Heterozygous mutation in adenosine deaminase gene in a patient with severe lymphopenia following corticosteroid treatment of autoimmune hemolytic anemia 101
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies 101
The Wiskott-Aldrich syndrome: From genotype-phenotype correlation to treatment 100
Reduced thymic output, cell cycle abnormalities, and increasedapoptosis of T lymphocytes in patients with cartilage-hair hypoplasia 99
Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: Report of the italian primary immunodeficiency network 99
Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies. 98
MUTATION ANALYSIS BY A NON-RADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM ASSAY IN NINE FAMILIES WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDX1). 97
Immunodeficiencies due to defects of class-switch recombination. 97
Cytokine-mediated signalling and early defects in lymphoid development 97
Aicardi Goutieres Syndrome: New Insights on a Novel Set of Inborn Errors of Immunity 97
Damaging-agent sensitivity of Artemis-deficient cell lines 96
Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency. 96
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. 95
Homozygous DNA Ligase IV R278H Mutation in Mice Leads to Leaky Scid and Represents A Model For Human LIG4 Syndrome 94
The genomic organization of the human transcription factor 3 (TFE3) gene. 93
Omenn syndrome in an infant with IL7RA gene mutation 93
Selective laser melting and electron beam melting of Ti6Al4V for orthopedic applications: A comparative study on the applied building direction 93
ALTERED B AND T LYMPHOCYTE HOMEOSTASIS IN THE BONE MARROW AND THE PERIPHERY CORRELATES WITH CLINICAL FINDINGS IN COMMON VARIABLE IMMUNODEFICIENCY (CVID) 92
A case of lymphoproliferative disease presenting with a clinical and immunological phenotype of common variable immunodeficiency. 91
MECHANISMS OF PRIMARY IMMUNODEFICIENCIES: FROM BED-SIDE TO BENCH AND BACK 91
Novel presentation of Omenn syndrome in association with aniridia. 91
Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA 90
Biomarkers and precision therapy for primary immunodeficiencies: an in vitro study based on induced pluripotent stem cells (iPSCs) from patients 90
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome 89
Totale 11.676
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Categoria #
all - tutte 98.799
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 98.799
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.068 0 0 0 0 0 0 0 0 0 703 121 244
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
2024/20252.816 16 52 57 550 396 313 358 203 555 316 0 0
Totale 18.153