IRIS Institutional Research Information System - OPENBS Open Archive UniBS

GILIANI, SILVIA CLARA
 Distribuzione geografica
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Continente #
NA - Nord America 14.377
AS - Asia 7.369
EU - Europa 5.955
SA - Sud America 1.456
Continente sconosciuto - Info sul continente non disponibili 506
AF - Africa 181
OC - Oceania 23
Totale 29.867
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Nazione #
US - Stati Uniti d'America 14.111
SG - Singapore 2.486
CN - Cina 2.418
IT - Italia 1.284
BR - Brasile 1.202
UA - Ucraina 1.108
DE - Germania 871
HK - Hong Kong 846
VN - Vietnam 490
FI - Finlandia 488
PL - Polonia 472
GB - Regno Unito 403
FR - Francia 380
BD - Bangladesh 289
TR - Turchia 266
RU - Federazione Russa 256
IE - Irlanda 210
IN - India 178
CA - Canada 137
NL - Olanda 105
SE - Svezia 89
AR - Argentina 75
ES - Italia 75
MX - Messico 72
IQ - Iraq 55
ZA - Sudafrica 54
AT - Austria 52
JP - Giappone 52
EC - Ecuador 49
ID - Indonesia 44
CO - Colombia 38
NG - Nigeria 33
KR - Corea 29
UZ - Uzbekistan 28
BE - Belgio 26
PK - Pakistan 25
VE - Venezuela 24
PY - Paraguay 23
AU - Australia 22
SA - Arabia Saudita 22
MA - Marocco 20
CZ - Repubblica Ceca 19
CH - Svizzera 16
CL - Cile 15
EG - Egitto 15
IR - Iran 15
LT - Lituania 14
JM - Giamaica 13
PE - Perù 13
TN - Tunisia 13
HN - Honduras 12
AE - Emirati Arabi Uniti 11
RO - Romania 11
UY - Uruguay 11
PH - Filippine 10
AZ - Azerbaigian 9
KE - Kenya 9
KZ - Kazakistan 9
AL - Albania 8
DK - Danimarca 8
DZ - Algeria 8
ET - Etiopia 8
IL - Israele 8
JO - Giordania 8
KG - Kirghizistan 8
LA - Repubblica Popolare Democratica del Laos 8
NP - Nepal 8
LB - Libano 7
MU - Mauritius 7
RS - Serbia 7
SN - Senegal 7
CR - Costa Rica 6
GR - Grecia 6
MD - Moldavia 6
OM - Oman 6
PS - Palestinian Territory 6
EU - Europa 5
MY - Malesia 5
PT - Portogallo 5
BA - Bosnia-Erzegovina 4
DO - Repubblica Dominicana 4
LU - Lussemburgo 4
TW - Taiwan 4
BG - Bulgaria 3
BO - Bolivia 3
CY - Cipro 3
EE - Estonia 3
HR - Croazia 3
HU - Ungheria 3
KH - Cambogia 3
MK - Macedonia 3
PA - Panama 3
PR - Porto Rico 3
SI - Slovenia 3
SK - Slovacchia (Repubblica Slovacca) 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
AM - Armenia 2
BB - Barbados 2
BH - Bahrain 2
Totale 29.331
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Città #
Fairfield 1.464
Ashburn 1.316
Singapore 1.308
Woodbridge 1.122
Houston 874
Hong Kong 842
Jacksonville 803
Ann Arbor 597
San Jose 595
Seattle 587
Cambridge 569
Beijing 493
Wilmington 480
Warsaw 466
The Dalles 421
Chandler 408
New York 362
Princeton 350
Helsinki 270
Nanjing 259
Brescia 257
Los Angeles 249
Council Bluffs 229
Lauterbourg 220
Dublin 209
Istanbul 199
Munich 190
Ho Chi Minh City 179
Columbus 157
Milan 148
Des Moines 137
Dallas 114
Naples 113
Buffalo 108
Nanchang 105
Dearborn 103
São Paulo 99
Chicago 98
Changsha 97
Shenyang 97
Hanoi 96
San Francisco 95
Moscow 93
Shanghai 85
Jinan 84
Redondo Beach 80
Santa Clara 80
Turku 79
San Diego 70
Tianjin 67
London 63
Hebei 59
Orem 59
Chennai 55
Phoenix 53
Jiaxing 52
Lancaster 48
Brooklyn 45
Rome 44
Frankfurt am Main 40
Tokyo 39
Atlanta 38
Denver 38
Nuremberg 38
Rio de Janeiro 38
Kunming 36
Stockholm 36
Hangzhou 34
Abuja 33
Zhengzhou 33
Manchester 32
Montreal 32
Ningbo 32
Johannesburg 31
Verona 31
Toronto 30
Haikou 29
Boston 28
Guangzhou 28
Poplar 28
Amsterdam 27
Charlotte 27
Dong Ket 26
Vienna 26
Baghdad 25
Jakarta 25
Mexico City 25
Salt Lake City 25
Brasília 24
Lanzhou 24
Boardman 23
Brussels 23
Mumbai 22
Tashkent 22
Assemini 21
Haiphong 21
Belo Horizonte 20
Düsseldorf 20
Kocaeli 20
Quito 20
Totale 19.171
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Nome #
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP 395
iPSC-DERIVED NEURAL STEM CELLS CULTURED ON ENGINEERED SUBSTRATES AS AN IN VITRO MODEL FOR AICARDI-GOUTIÈRES SYNDROME 255
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? 239
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 238
Wiskott–Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma 229
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 226
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 220
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 214
Eye model for floaters’ studies: production of 3D printed scaffolds 211
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 207
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease 207
Selective laser melting and electron beam melting of Ti6Al4V for orthopedic applications: A comparative study on the applied building direction 206
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. 204
A case of lymphoproliferative disease presenting with a clinical and immunological phenotype of common variable immunodeficiency. 198
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay 198
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype. 195
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. 188
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 186
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation 186
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia 184
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience 183
IPSC-DERIVED NEURONS AS AN IN VITRO MODEL FOR THE STUDY OF INTERFERONOPATHIES WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT 182
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. 181
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications 179
Reduced thymic output, cell cycle abnormalities, and increasedapoptosis of T lymphocytes in patients with cartilage-hair hypoplasia 178
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. 177
First report of successful stem cell transplantation in a child with CD40 deficiency 177
Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression 175
Next Generation Sequencing Analysis in Early Onset Dementia Patients 172
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation. 171
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency 170
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. 169
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome 169
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency 168
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency 167
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects 164
Heterozygous mutation in adenosine deaminase gene in a patient with severe lymphopenia following corticosteroid treatment of autoimmune hemolytic anemia 164
Carbonization of polymer precursors substrates to direct human iPSC-derived neurons differentiation and maturation 164
E-Cadherin expression and blunted interferon response in blastic plasmacytoid dendritic cell neoplasm 163
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency. 162
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias 162
DISCRIMINATION AMONG MONOGENIC AND ACQUIRED DISEASE WITH INFLAMMATORY AND AUTOIMMUNE COMPONENT THROUGH THE IN VITRO STUDY OF SIGNAL TRANSDUCERS OF TYPE I INTERFERON 162
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. 160
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. 157
A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency 157
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies 157
A novel mutation in the POLE2 gene causing combined immunodeficiency 157
Different In Vitro Models of Chronic Myeloid Leukemia Show Different Characteristics: Biological Replicates Are Not Biologically Equivalent 156
A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency. 156
Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face? 156
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. 155
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia 155
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency 155
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment 155
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 154
Aicardi Goutieres Syndrome: New Insights on a Novel Set of Inborn Errors of Immunity 154
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 149
CD40 and CD40 Ligand Deficiencies 149
Clinical and molecular features of X-linked hyper IgM syndrome – An experience from North India 149
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects 149
ALTERED B AND T LYMPHOCYTE HOMEOSTASIS IN THE BONE MARROW AND THE PERIPHERY CORRELATES WITH CLINICAL FINDINGS IN COMMON VARIABLE IMMUNODEFICIENCY (CVID) 147
Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children. 147
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients 147
Fenotipo clinico, valutazione immunologia e analisi molecolare in pazienti affetti da trombocitemia isolata X-recessiva (XLT) 146
The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies. 146
Patients' induced pluripotent stem cells to model drug induced adverse events: a role in predicting thiopurine induced pancreatitis? 146
Selective laser melting and electron beam melting of Ti6Al4V for orthopedic applications: A comparative study on the applied building direction 146
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis 145
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? 145
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). 144
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. 144
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia 144
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 143
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. 142
Biomarkers and precision therapy for primary immunodeficiencies: an in vitro study based on induced pluripotent stem cells (iPSCs) from patients 141
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 140
Application of common recommendations for diagnosis and treatment of Wiskott-Aldrich syndrome and X-recessive piastrinopenia: clinical and immunological characteristics of 65 patients with WAS/XLT 140
CASE REPORT: IDENTIFICATION OF A PATIENT WITH FAMILIAR MUTATIONS AFFECTING BOTH WASP AND FOXP3 GENES 139
Low WASp expression in patients with no apparent mutation in the WASP gene 138
Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation 136
Homozygous DNA Ligase IV R278H Mutation in Mice Leads to Leaky Scid and Represents A Model For Human LIG4 Syndrome 135
Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort 135
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene 135
Prenatal diagnosis of JAK3 deficient SCID. 134
The Wiskott-Aldrich syndrome: From genotype-phenotype correlation to treatment 134
Production of Micro-patterned Substrates to Direct Human iPSCs-derived Neural Stem Cells Orientation and Interaction 134
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells. 133
Primary immunodeficiency mutation databases 133
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome 133
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. 132
MUTATION ANALYSIS BY A NON-RADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM ASSAY IN NINE FAMILIES WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDX1). 132
Immunodeficiencies due to defects of class-switch recombination. 132
Partial V(D)J recombination activity leads to Omenn syndrome 132
Of genes and phenotypes: the immunological and molecular spectrum of combined immunodeficiency. Defects of gc-JAK3 signalling pathway as a model. 132
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. 132
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 132
Defect of regulatory T cells in patients with Omenn syndrome 132
Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation. 132
Corrigendum : Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies (Frontiers in Immunology (2019) 10 (316) DOI: 10.3389/fimmu.2019.00316) 132
Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency 132
Totale 16.449
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Categoria #
all - tutte 143.110
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 143.110
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.407 0 275 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
2024/20254.491 16 52 57 550 396 313 358 203 555 494 892 605
2025/20269.241 837 1.124 629 1.341 905 646 1.236 430 506 734 469 384
2026/2027798 450 348 0 0 0 0 0 0 0 0 0 0
Totale 29.867