IRIS Institutional Research Information System - OPENBS Open Archive UniBS

GILIANI, SILVIA CLARA
 Distribuzione geografica
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Continente #
NA - Nord America 16.450
AS - Asia 7.413
EU - Europa 6.200
SA - Sud America 1.523
Continente sconosciuto - Info sul continente non disponibili 511
AF - Africa 186
OC - Oceania 24
Totale 32.307
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Nazione #
US - Stati Uniti d'America 15.993
SG - Singapore 2.488
CN - Cina 2.420
IT - Italia 1.454
BR - Brasile 1.245
UA - Ucraina 1.108
DE - Germania 882
HK - Hong Kong 850
VN - Vietnam 495
FI - Finlandia 488
PL - Polonia 472
GB - Regno Unito 438
FR - Francia 382
BD - Bangladesh 295
RU - Federazione Russa 268
TR - Turchia 267
CA - Canada 235
IE - Irlanda 210
IN - India 181
NL - Olanda 108
SE - Svezia 90
AR - Argentina 79
ES - Italia 77
MX - Messico 77
IQ - Iraq 55
ZA - Sudafrica 55
JP - Giappone 53
AT - Austria 52
EC - Ecuador 52
CO - Colombia 49
ID - Indonesia 44
NG - Nigeria 33
KR - Corea 29
UZ - Uzbekistan 28
VE - Venezuela 28
BE - Belgio 26
PK - Pakistan 26
HN - Honduras 25
JM - Giamaica 24
SA - Arabia Saudita 24
AU - Australia 23
PY - Paraguay 23
MA - Marocco 20
CZ - Repubblica Ceca 19
CR - Costa Rica 18
LT - Lituania 17
CH - Svizzera 16
CL - Cile 16
EG - Egitto 15
IL - Israele 15
IR - Iran 15
PE - Perù 14
TT - Trinidad e Tobago 14
TN - Tunisia 13
AE - Emirati Arabi Uniti 12
GT - Guatemala 12
PH - Filippine 12
KZ - Kazakistan 11
PR - Porto Rico 11
RO - Romania 11
SV - El Salvador 11
UY - Uruguay 11
AZ - Azerbaigian 9
JO - Giordania 9
KE - Kenya 9
AL - Albania 8
DK - Danimarca 8
DZ - Algeria 8
EE - Estonia 8
ET - Etiopia 8
GP - Guadalupe 8
KG - Kirghizistan 8
LA - Repubblica Popolare Democratica del Laos 8
NP - Nepal 8
LB - Libano 7
MU - Mauritius 7
MY - Malesia 7
RS - Serbia 7
SN - Senegal 7
GR - Grecia 6
MD - Moldavia 6
OM - Oman 6
PS - Palestinian Territory 6
CW - ???statistics.table.value.countryCode.CW??? 5
DO - Repubblica Dominicana 5
EU - Europa 5
NI - Nicaragua 5
PT - Portogallo 5
SC - Seychelles 5
BA - Bosnia-Erzegovina 4
HU - Ungheria 4
LU - Lussemburgo 4
TW - Taiwan 4
AM - Armenia 3
BG - Bulgaria 3
BO - Bolivia 3
CY - Cipro 3
HR - Croazia 3
KH - Cambogia 3
MK - Macedonia 3
Totale 31.759
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Città #
Ashburn 1.819
Fairfield 1.464
Singapore 1.308
Woodbridge 1.122
San Jose 914
Houston 876
Hong Kong 846
Jacksonville 803
Ann Arbor 597
Seattle 588
Cambridge 572
Beijing 494
Council Bluffs 482
Wilmington 480
Warsaw 467
The Dalles 422
Chandler 408
New York 374
Princeton 352
Helsinki 270
Los Angeles 267
Brescia 260
Nanjing 259
Lauterbourg 220
Dublin 209
Istanbul 199
Munich 190
Ho Chi Minh City 182
Milan 165
Columbus 158
Des Moines 138
São Paulo 129
Dallas 125
Naples 123
Santa Clara 118
Buffalo 116
Chicago 110
San Francisco 106
Nanchang 105
Dearborn 103
Changsha 97
Shenyang 97
Hanoi 96
Moscow 93
Shanghai 85
Jinan 84
Phoenix 82
Redondo Beach 80
Turku 79
San Diego 72
Tianjin 67
London 64
Hebei 59
Orem 59
Toronto 59
Chennai 55
Atlanta 53
Jiaxing 52
Montreal 50
Rome 50
Brooklyn 48
Lancaster 48
Denver 42
Frankfurt am Main 40
Tokyo 40
Nuremberg 39
Rio de Janeiro 39
Stockholm 37
Kunming 36
Hangzhou 34
Abuja 33
Manchester 33
Zhengzhou 33
Boston 32
Ningbo 32
Johannesburg 31
Verona 31
Charlotte 30
North Bergen 30
Haikou 29
Brasília 28
Guangzhou 28
Poplar 28
Amsterdam 27
Vienna 27
Dong Ket 26
Mexico City 26
Baghdad 25
Boardman 25
Jakarta 25
Salt Lake City 25
Lanzhou 24
Brussels 23
Turin 23
Mumbai 22
Tashkent 22
Assemini 21
Haiphong 21
Quito 21
Belo Horizonte 20
Totale 20.577
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Nome #
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP 418
iPSC-DERIVED NEURAL STEM CELLS CULTURED ON ENGINEERED SUBSTRATES AS AN IN VITRO MODEL FOR AICARDI-GOUTIÈRES SYNDROME 266
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis 252
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? 250
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 242
Wiskott–Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma 241
A case of lymphoproliferative disease presenting with a clinical and immunological phenotype of common variable immunodeficiency. 240
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 232
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 223
Eye model for floaters’ studies: production of 3D printed scaffolds 220
Selective laser melting and electron beam melting of Ti6Al4V for orthopedic applications: A comparative study on the applied building direction 213
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 211
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease 210
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. 209
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay 209
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype. 208
IPSC-DERIVED NEURONS AS AN IN VITRO MODEL FOR THE STUDY OF INTERFERONOPATHIES WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT 205
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 194
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation 194
Next Generation Sequencing Analysis in Early Onset Dementia Patients 194
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia 193
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. 191
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. 190
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications 189
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience 189
Reduced thymic output, cell cycle abnormalities, and increasedapoptosis of T lymphocytes in patients with cartilage-hair hypoplasia 188
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 188
First report of successful stem cell transplantation in a child with CD40 deficiency 184
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. 183
Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression 181
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation. 181
Aicardi Goutieres Syndrome: New Insights on a Novel Set of Inborn Errors of Immunity 178
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency 177
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency 176
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. 175
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency 175
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome 175
E-Cadherin expression and blunted interferon response in blastic plasmacytoid dendritic cell neoplasm 175
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency. 173
ALTERED B AND T LYMPHOCYTE HOMEOSTASIS IN THE BONE MARROW AND THE PERIPHERY CORRELATES WITH CLINICAL FINDINGS IN COMMON VARIABLE IMMUNODEFICIENCY (CVID) 172
Carbonization of polymer precursors substrates to direct human iPSC-derived neurons differentiation and maturation 172
Different In Vitro Models of Chronic Myeloid Leukemia Show Different Characteristics: Biological Replicates Are Not Biologically Equivalent 171
A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency. 171
DISCRIMINATION AMONG MONOGENIC AND ACQUIRED DISEASE WITH INFLAMMATORY AND AUTOIMMUNE COMPONENT THROUGH THE IN VITRO STUDY OF SIGNAL TRANSDUCERS OF TYPE I INTERFERON 170
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. 169
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias 168
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects 167
Heterozygous mutation in adenosine deaminase gene in a patient with severe lymphopenia following corticosteroid treatment of autoimmune hemolytic anemia 167
Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency 166
CASE REPORT: IDENTIFICATION OF A PATIENT WITH FAMILIAR MUTATIONS AFFECTING BOTH WASP AND FOXP3 GENES 166
A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency 165
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies 165
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. 164
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 163
Fenotipo clinico, valutazione immunologia e analisi molecolare in pazienti affetti da trombocitemia isolata X-recessiva (XLT) 163
Persistent Infection with Rotavirus Vaccine Strain in Severe Combined Immunodeficiency (SCID) Child: Is Rotavirus Vaccination in SCID Children a Janus Face? 163
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment 163
A novel mutation in the POLE2 gene causing combined immunodeficiency 163
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. 161
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients 161
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 160
Selective laser melting and electron beam melting of Ti6Al4V for orthopedic applications: A comparative study on the applied building direction 160
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects 159
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia 158
Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. 158
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). 156
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia 156
Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. 155
Clinical and molecular features of X-linked hyper IgM syndrome – An experience from North India 155
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis 153
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 153
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? 153
The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies. 152
Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children. 152
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one 152
BCGosis: A Warning Sign for Primary Immunodeficiency 149
CD40 and CD40 Ligand Deficiencies 149
Patients' induced pluripotent stem cells to model drug induced adverse events: a role in predicting thiopurine induced pancreatitis? 149
Biomarkers and precision therapy for primary immunodeficiencies: an in vitro study based on induced pluripotent stem cells (iPSCs) from patients 149
Low WASp expression in patients with no apparent mutation in the WASP gene 149
Plasma p-tau181 and amyloid markers in Alzheimer's disease: A comparison between Lumipulse and SIMOA 149
Long-term outcome and lineage-specific chimerism in 194 Wiskott-Aldrich Syndrome patients treated by hematopoietic celltransplantation between 1980-2009: an international collaborative study. 148
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) 148
Primary immunodeficiency mutation databases 147
Of genes and phenotypes: the immunological and molecular spectrum of combined immunodeficiency. Defects of gc-JAK3 signalling pathway as a model. 146
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. 146
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. 145
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells. 144
La sindrome di Wiskott-Aldrich e piastrinopenia X-recessiva: dalla biologia alla clinica 144
Homozygous DNA Ligase IV R278H Mutation in Mice Leads to Leaky Scid and Represents A Model For Human LIG4 Syndrome 144
Partial V(D)J recombination activity leads to Omenn syndrome 143
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization 143
Defect of regulatory T cells in patients with Omenn syndrome 143
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 143
Germline testing of Iranian families suspected of Lynch syndrome: molecular characterization and current surveillance of families with pathogenic variants in MSH2, MSH6, and PMS2 142
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 142
Prenatal diagnosis of JAK3 deficient SCID. 142
Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". 141
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. 141
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 141
Totale 17.541
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Categoria #
all - tutte 152.291
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 152.291
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.088 0 0 0 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
2026/20273.238 450 469 809 1.510 0 0 0 0 0 0 0 0
Totale 32.307