IRIS
BRIUGLIA, Silvana
 Distribuzione geografica
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Continente #
EU - Europa 17.448
NA - Nord America 9.089
AS - Asia 4.874
SA - Sud America 1.945
AF - Africa 138
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 10
Totale 33.516
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Nazione #
US - Stati Uniti d'America 8.916
IT - Italia 7.567
RU - Federazione Russa 4.744
SG - Singapore 2.191
BR - Brasile 1.681
CN - Cina 1.356
IE - Irlanda 1.298
SE - Svezia 1.166
DE - Germania 565
UA - Ucraina 545
HK - Hong Kong 487
FR - Francia 447
FI - Finlandia 307
VN - Vietnam 265
GB - Regno Unito 244
NL - Olanda 188
PL - Polonia 116
IN - India 105
AR - Argentina 91
BD - Bangladesh 80
CA - Canada 63
MX - Messico 63
AT - Austria 52
TR - Turchia 52
IQ - Iraq 51
ZA - Sudafrica 40
ES - Italia 39
CH - Svizzera 38
EC - Ecuador 37
JP - Giappone 35
BE - Belgio 34
CO - Colombia 34
PK - Pakistan 34
VE - Venezuela 31
MA - Marocco 26
IR - Iran 25
UZ - Uzbekistan 25
ID - Indonesia 24
PY - Paraguay 19
CZ - Repubblica Ceca 17
PE - Perù 17
SA - Arabia Saudita 17
EG - Egitto 15
CL - Cile 13
RO - Romania 13
JM - Giamaica 12
JO - Giordania 12
KZ - Kazakistan 12
BO - Bolivia 11
IL - Israele 11
AU - Australia 10
NP - Nepal 10
OM - Oman 10
TN - Tunisia 10
EU - Europa 9
GR - Grecia 9
KE - Kenya 9
UY - Uruguay 9
AE - Emirati Arabi Uniti 8
AZ - Azerbaigian 8
CR - Costa Rica 8
ET - Etiopia 8
PH - Filippine 8
DZ - Algeria 7
HN - Honduras 7
LT - Lituania 7
MY - Malesia 7
AL - Albania 6
AO - Angola 6
CI - Costa d'Avorio 6
DK - Danimarca 6
LB - Libano 6
PT - Portogallo 6
DO - Repubblica Dominicana 5
SK - Slovacchia (Repubblica Slovacca) 5
GT - Guatemala 4
KG - Kirghizistan 4
NO - Norvegia 4
RS - Serbia 4
SM - San Marino 4
AM - Armenia 3
GE - Georgia 3
HU - Ungheria 3
NG - Nigeria 3
NI - Nicaragua 3
PA - Panama 3
TH - Thailandia 3
TW - Taiwan 3
BA - Bosnia-Erzegovina 2
BG - Bulgaria 2
BN - Brunei Darussalam 2
BS - Bahamas 2
BY - Bielorussia 2
GY - Guiana 2
KH - Cambogia 2
KR - Corea 2
KW - Kuwait 2
LK - Sri Lanka 2
LV - Lettonia 2
ML - Mali 2
Totale 33.489
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Città #
Moscow 1.527
Dublin 1.298
Singapore 1.148
Jacksonville 1.083
Ashburn 1.011
Chandler 972
Dallas 922
Rome 513
Milan 490
Hong Kong 486
Beijing 447
Nyköping 445
San Jose 290
Dearborn 289
The Dalles 276
Naples 265
Princeton 237
Cambridge 224
Lauterbourg 202
Medford 198
Des Moines 197
Boardman 176
Los Angeles 165
Messina 162
Ann Arbor 140
São Paulo 112
Buffalo 111
Catania 111
Palermo 108
Munich 106
Warsaw 106
New York 100
Florence 98
Bologna 80
Ho Chi Minh City 80
Woodbridge 78
Bari 73
Tianjin 72
Redondo Beach 70
Council Bluffs 65
Pisa 62
Turin 60
Hanoi 58
Wilmington 58
Padova 56
Helsinki 52
Guangzhou 49
Rio de Janeiro 49
Venice 48
Belo Horizonte 47
Brescia 47
Verona 44
Houston 43
Jinan 41
Genoa 40
Orem 38
Shenzhen 38
Reggio Emilia 37
Frankfurt am Main 36
Santa Clara 35
Vienna 35
San Mateo 34
Turku 34
Pescara 33
Tokyo 33
Parma 32
Chennai 31
Shenyang 30
Napoli 29
Brussels 28
Nuremberg 28
Seattle 28
Brasília 27
Lancaster 27
Livorno 27
Washington 27
Nanjing 26
Baghdad 24
Curitiba 24
Johannesburg 22
Lucca 22
Porto Alegre 22
Tashkent 22
Haikou 21
Montreal 21
Tehran 21
Cava de' Tirreni 20
Chicago 20
Ferrara 20
Monza 20
Prato 20
Taranto 19
Campinas 18
London 18
Manchester 18
Siena 18
Vicenza 18
Aversa 17
Gorgonzola 17
Zhengzhou 17
Totale 16.439
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Nome #
UN CASO DI MICRODUPLICAZIONE Xp22.31 4.329
Lipodistrofia parziale tipo Dunnigan: aspetti clinici e genetici 1.120
Sindrome del vomito ciclico: identificazione della mutazione 3243 del DNA mitocondriale 800
Microduplicazione Xp22.32 -> p22.31: descrizione di una fratria 792
TRISOMIA 14 A MOSAICO:DESCRIZIONE DI UN CASO 349
Le Trisomie.Compendio di Pediatria generale e specialistica, sezione Genetica. 247
Identificazione di una nuova famiglia italiana con geniospasmo ereditario 243
Individuazione del locus genico della sindrome di Nablus 239
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity. 233
Autoimmune liver disease in Noonan Syndrome. 230
Age and sex prevalence estimate of Joubert syndrome in Italy 226
A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy Loss 225
Ace and angiotensin type 2 receptor genes genotype distributions in italian childhood with congenital uropathies 224
A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1 217
5. Sindrome di Borjeson-Forssman-Lehmann: descrizione di un caso 212
La sindrome di Leri-Weill: una diagnosi essenzialmente clinicaLeri-Weill syndrome: a clinical diagnosis 205
Allelic association of gene markers on chromosome 11q in Italian families with atopy 205
Analisi molecolare di polimorfismi dei geni ACE e AT2R in bambini affetti da patologie congenite del rene e delle vie urinarie 204
Febbre Mediterranea Familiare e mutazioni in eterozigosi: forma di ereditarietà pseudodominante? 204
CNVs inform the biological network of Autism spectrum disorder 202
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 197
Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): Association with clinical severity and phenotype. 194
Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies 189
Geniospasmo ereditario: identificata una nuova fratria 188
Allelic association of gene markers in the FC epsilon receptor I beta gene and IL-4 gene promoter in Italian atopic children 187
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting 180
3243 BP Mitochondrial DNA mutation in an Italian family with cyclic vomiting syndrome 178
Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child 178
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 172
H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol 168
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients 168
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia 166
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 165
Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion 162
Allelic association of gene markers on chromosome 11q in Italian families with atopy 160
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family 159
Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence? 159
aCGH nella diagnostica delle sindromi dismorfiche: nostra casistica 159
Analisi molecolare del polimorfismo -112G/A del gene uteroglobin-related protein 1 ( UGRP1) in pazienti in età pediatrica affetti da asma atopico. 155
Serum levels of interleukin-18 in splenectomized and nonsplenectomized thalassemic patients: preliminary considerations. 155
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 154
Sindrome di Joubert e altre sindromi con segno del dente molare: prevalenza e spettro fenotipico dei geni noti 153
Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al 153
Common atrium, atrioventricular canal defect/postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by compound heterozygosity for loss of function and hypomorphic EVC mutations. 148
LA SINDROME DI DIGEORGE: PECULIARITÀ CLINICHE E GENETICHE 147
Oxidative stress in children with Down's syndrome 146
Analisi molecolare di polimorfismi genetici del recettore FcεIβ della regione promotrice dell' IL-4 in famiglie del Sud.Italia con atopia 146
Mutations in TMEM216 cause Joubert (JBTS2), Meckel (MKS2) and related syndromes 146
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 145
A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review 145
Bassa statura e sindromi genetiche 144
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) 144
Blefarofimosi e sindromi correlateBlepharophimosis and related Syndromes 143
Artrite idiopatica giovanile: aspetti immunologici e geneticiJuvenile idiopathic arthritis: immunological and genetic factors 142
Livelli sierici di IL18 in soggetti talassemici splenectomizzati e non 140
Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene andIL-4 gene promoter in Italian atopic families. 138
Aspetti immunogenetici delle infezioni delle vie genitali femminili da Clamydia Trachomatis e Trichomonas Vaginalis 136
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response. 136
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders 136
Molecular Pathways within Autism Spectrum Disorder Endophenotypes 135
Necrobiosis lipoidica diabeticorum in a male child 133
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia (OMIM 248910) 127
Hypothyroidism and oxidative stress in Down syndrome 126
Su un caso di microdelezione 6p25.1-6p25.3 125
Deficit di sottoclassi di IgG: tra storia e attualità 125
Presence of Herlichia Chaffeensis in Italy. A case of Human Monocytic Ehrlichiosis 125
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation. 125
Un caso di cromosoma Y isodicentrico e bassa statura 123
Protein carbonyl group content in patients affected by familiar chronic nail candidiasis 123
Candidiasi mucocutanea cronica tra storia e novità 122
Molecular analysis of sequence variants in the Fc epsilon receptor I beta gene and IL-4 gene promoter in Italian atopic families 122
MARKERS DI STRESS OSSIDATIVO IN BAMBINI CON SINDROME DI DOWN 121
Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women 121
Linear scleroderma 'en coup de sabre' associated with facial atrophy in a patient seropositive for Borrelia burgdorferi: a true case of molecular mimicry? 118
Sindrome di Ohdo con macrocefalia ed edema nucale: descrizione di un caso 118
Le sindromi febbrili ereditarie potrebbero essere a trasmissione oligogenica 117
Sindrome di Goldenhar: descrizione di un caso clinico 117
Linfoistiocitosi Emofagocitica e sindrome di Down: descrizione di un caso clinicoHemophagocytic lymphohistiocytosis and Down syndrome: description of a clinical case 116
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects 115
Familial Mediterranean fever: genetic and immunological aspects 114
Neurofibromatosi di tipo 1: aspetti genetici e clinici 113
Mutations in TMEM216 cause Joubert (JBTS2), Meckel (MKS2) and related syndromes 113
The immune responce of IL1 (IL1a/IL1b) in thalassaemic subiects with HCV related chronic epatopathy 112
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A 111
Su un caso di lissencefalia di tipo 1 e deficit di linfociti CD8+ 111
Osteogenesis Imperfecta/Ehlers–Danlos Overlap Syndrome and Neuroblastoma—Case Report and Review of Literature 111
Prevalence of deafness-associated connexin-26 (GJB2) and connexin-30 (GJB6) pathogenic alleles in a large patient cohort from Eastern Sicily 110
TINU Syndrome: descrizione di un caso 109
Body weight changes and bipolar disorder: a molecular pathway analysis 108
Un caso di sindrome di Parry Romberg con anticorpi anti borrellia in un' area endemica per la malattia di Lyme 108
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 108
APLV e dermatite atopica: risultati terapeutici con beclometasone 17,21-dipropionato per os. 106
Condrodisplasia Metafisaria di Schmid: descrizione di un caso 103
Livelli di leptina, grelina e obestatina in una popolazione siciliana di madri e neonati: dati preliminari 103
Juvenile idiopathic arthritis: immunological and genetic factors 102
Bromelina ed acidi boswellici: risultati clinico-immunologici in una casistica pediatrica con flogosi respiratoria acuta 100
NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared. 100
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 100
DESCRIZIONE DI UN CASO SINDROME ORO-FACIO-DIGITALE TIPO 1 CON ANOMALIE SCHELETRICHE 99
Dalla Schönlein-Henoch allo scorbuto: un difficile percorso diagnostico 99
Totale 21.581
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Categoria #
all - tutte 96.892
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 96.892
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021132 0 0 0 0 0 0 0 0 0 0 0 132
2021/20222.150 51 133 83 100 73 51 183 139 95 384 292 566
2022/20234.845 399 286 224 386 396 484 156 325 1.701 111 217 160
2023/20242.695 146 272 212 200 584 292 159 221 119 138 138 214
2024/20255.640 142 214 161 392 368 262 206 1.168 1.332 312 392 691
2025/202611.892 543 896 964 930 847 2.725 1.335 1.325 1.378 477 272 200
Totale 33.812