IRIS
BRIUGLIA, Silvana
 Distribuzione geografica
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Continente #
EU - Europa 17.534
NA - Nord America 9.856
AS - Asia 4.922
SA - Sud America 1.954
Continente sconosciuto - Info sul continente non disponibili 307
AF - Africa 138
OC - Oceania 12
Totale 34.723
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Nazione #
US - Stati Uniti d'America 9.655
IT - Italia 7.642
RU - Federazione Russa 4.744
SG - Singapore 2.195
BR - Brasile 1.684
CN - Cina 1.384
IE - Irlanda 1.298
SE - Svezia 1.167
DE - Germania 565
UA - Ucraina 545
HK - Hong Kong 489
FR - Francia 450
FI - Finlandia 307
VN - Vietnam 266
GB - Regno Unito 244
NL - Olanda 191
PL - Polonia 116
IN - India 105
AR - Argentina 92
BD - Bangladesh 87
CA - Canada 70
MX - Messico 64
AT - Austria 52
TR - Turchia 52
IQ - Iraq 51
ES - Italia 42
ZA - Sudafrica 40
CH - Svizzera 38
EC - Ecuador 38
CO - Colombia 36
JP - Giappone 35
BE - Belgio 34
PK - Pakistan 34
VE - Venezuela 31
ID - Indonesia 26
MA - Marocco 26
IR - Iran 25
UZ - Uzbekistan 25
PY - Paraguay 19
PE - Perù 18
CZ - Repubblica Ceca 17
SA - Arabia Saudita 17
CR - Costa Rica 16
EG - Egitto 15
CL - Cile 14
JM - Giamaica 14
RO - Romania 13
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
HN - Honduras 9
KE - Kenya 9
MY - Malesia 9
PH - Filippine 9
UY - Uruguay 9
AE - Emirati Arabi Uniti 8
AZ - Azerbaigian 8
ET - Etiopia 8
LT - Lituania 8
DZ - Algeria 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
GT - Guatemala 5
SK - Slovacchia (Repubblica Slovacca) 5
KG - Kirghizistan 4
NI - Nicaragua 4
NO - Norvegia 4
RS - Serbia 4
SM - San Marino 4
TH - Thailandia 4
TT - Trinidad e Tobago 4
AM - Armenia 3
GE - Georgia 3
HU - Ungheria 3
NG - Nigeria 3
PA - Panama 3
TW - Taiwan 3
BA - Bosnia-Erzegovina 2
BB - Barbados 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
Totale 34.395
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Città #
Moscow 1.527
Dublin 1.298
Singapore 1.152
Jacksonville 1.083
Ashburn 1.043
Chandler 972
Dallas 924
Rome 522
Milan 501
Hong Kong 488
Beijing 450
Nyköping 445
Council Bluffs 377
San Jose 308
The Dalles 290
Dearborn 289
Naples 265
Princeton 237
Cambridge 224
Lauterbourg 202
Medford 198
Des Moines 197
Boardman 176
Los Angeles 172
Messina 162
Ann Arbor 140
São Paulo 112
Buffalo 111
Catania 111
Palermo 108
Munich 106
Warsaw 106
New York 103
Florence 100
Bologna 81
Ho Chi Minh City 80
Woodbridge 78
Bari 74
Tianjin 72
Redondo Beach 70
Pisa 62
Turin 61
Hanoi 58
Wilmington 58
Padova 56
Helsinki 52
Guangzhou 49
Rio de Janeiro 49
Brescia 48
Venice 48
Belo Horizonte 47
Santa Clara 47
Houston 44
Verona 44
Genoa 41
Jinan 41
Orem 38
Shenzhen 38
Reggio Emilia 37
Frankfurt am Main 36
Vienna 35
Pescara 34
San Mateo 34
Turku 34
Tokyo 33
Parma 32
Chennai 31
Shenyang 30
Napoli 29
Washington 29
Brussels 28
Nuremberg 28
Seattle 28
Brasília 27
Lancaster 27
Livorno 27
Nanjing 26
Baghdad 24
Curitiba 24
Chicago 22
Johannesburg 22
Lucca 22
Porto Alegre 22
Tashkent 22
Haikou 21
Montreal 21
Tehran 21
Cava de' Tirreni 20
Columbus 20
Ferrara 20
Manchester 20
Monza 20
Prato 20
Taranto 19
Atlanta 18
Campinas 18
London 18
Phoenix 18
Siena 18
Vicenza 18
Totale 16.888
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Nome #
UN CASO DI MICRODUPLICAZIONE Xp22.31 4.359
Lipodistrofia parziale tipo Dunnigan: aspetti clinici e genetici 1.150
Sindrome del vomito ciclico: identificazione della mutazione 3243 del DNA mitocondriale 803
Microduplicazione Xp22.32 -> p22.31: descrizione di una fratria 796
TRISOMIA 14 A MOSAICO:DESCRIZIONE DI UN CASO 350
Le Trisomie.Compendio di Pediatria generale e specialistica, sezione Genetica. 251
Identificazione di una nuova famiglia italiana con geniospasmo ereditario 249
Individuazione del locus genico della sindrome di Nablus 241
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. 241
Autoimmune liver disease in Noonan Syndrome. 235
A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy Loss 231
Age and sex prevalence estimate of Joubert syndrome in Italy 229
Ace and angiotensin type 2 receptor genes genotype distributions in italian childhood with congenital uropathies 227
A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1 221
5. Sindrome di Borjeson-Forssman-Lehmann: descrizione di un caso 213
Analisi molecolare di polimorfismi dei geni ACE e AT2R in bambini affetti da patologie congenite del rene e delle vie urinarie 207
La sindrome di Leri-Weill: una diagnosi essenzialmente clinicaLeri-Weill syndrome: a clinical diagnosis 207
Allelic association of gene markers on chromosome 11q in Italian families with atopy 207
Febbre Mediterranea Familiare e mutazioni in eterozigosi: forma di ereditarietà pseudodominante? 205
CNVs inform the biological network of Autism spectrum disorder 203
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 200
Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): Association with clinical severity and phenotype. 197
Geniospasmo ereditario: identificata una nuova fratria 190
Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies 190
Allelic association of gene markers in the FC epsilon receptor I beta gene and IL-4 gene promoter in Italian atopic children 188
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting 184
Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child 182
3243 BP Mitochondrial DNA mutation in an Italian family with cyclic vomiting syndrome 181
Talassemia major ed allergia: conferma dell' hygiene hypotesis. 175
Metaphyseal chondrodysplasia Schmid type: a diagnosis delayed. 174
H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol 173
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 173
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia 173
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients 172
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 169
Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion 163
Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence? 163
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family 162
aCGH nella diagnostica delle sindromi dismorfiche: nostra casistica 162
Allelic association of gene markers on chromosome 11q in Italian families with atopy 161
Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al 158
Serum levels of interleukin-18 in splenectomized and nonsplenectomized thalassemic patients: preliminary considerations. 157
Analisi molecolare del polimorfismo -112G/A del gene uteroglobin-related protein 1 ( UGRP1) in pazienti in età pediatrica affetti da asma atopico. 156
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 155
Sindrome di Joubert e altre sindromi con segno del dente molare: prevalenza e spettro fenotipico dei geni noti 154
Bassa statura e sindromi genetiche 152
LA SINDROME DI DIGEORGE: PECULIARITÀ CLINICHE E GENETICHE 151
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. 151
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 150
Mutations in TMEM216 cause Joubert (JBTS2), Meckel (MKS2) and related syndromes 150
Oxidative stress in children with Down's syndrome 148
Analisi molecolare di polimorfismi genetici del recettore FcεIβ della regione promotrice dell' IL-4 in famiglie del Sud.Italia con atopia 148
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) 147
A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review 147
Artrite idiopatica giovanile: aspetti immunologici e geneticiJuvenile idiopathic arthritis: immunological and genetic factors 146
Blefarofimosi e sindromi correlateBlepharophimosis and related Syndromes 144
Livelli sierici di IL18 in soggetti talassemici splenectomizzati e non 142
Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene andIL-4 gene promoter in Italian atopic families. 142
Aspetti immunogenetici delle infezioni delle vie genitali femminili da Clamydia Trachomatis e Trichomonas Vaginalis 140
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders 140
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response. 139
Molecular Pathways within Autism Spectrum Disorder Endophenotypes 138
Necrobiosis lipoidica diabeticorum in a male child 134
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia (OMIM 248910) 133
Protein carbonyl group content in patients affected by familiar chronic nail candidiasis 129
Hypothyroidism and oxidative stress in Down syndrome 129
Presence of Herlichia Chaffeensis in Italy. A case of Human Monocytic Ehrlichiosis 128
Deficit di sottoclassi di IgG: tra storia e attualità 127
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation. 127
Su un caso di microdelezione 6p25.1-6p25.3 126
Candidiasi mucocutanea cronica tra storia e novità 125
Un caso di cromosoma Y isodicentrico e bassa statura 125
Linear scleroderma 'en coup de sabre' associated with facial atrophy in a patient seropositive for Borrelia burgdorferi: a true case of molecular mimicry? 123
Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women 123
Molecular analysis of sequence variants in the Fc epsilon receptor I beta gene and IL-4 gene promoter in Italian atopic families 123
MARKERS DI STRESS OSSIDATIVO IN BAMBINI CON SINDROME DI DOWN 122
Linfoistiocitosi Emofagocitica e sindrome di Down: descrizione di un caso clinicoHemophagocytic lymphohistiocytosis and Down syndrome: description of a clinical case 121
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A 120
Sindrome di Goldenhar: descrizione di un caso clinico 120
Sindrome di Ohdo con macrocefalia ed edema nucale: descrizione di un caso 119
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects 119
Le sindromi febbrili ereditarie potrebbero essere a trasmissione oligogenica 118
Neurofibromatosi di tipo 1: aspetti genetici e clinici 117
Familial Mediterranean fever: genetic and immunological aspects 117
Mutations in TMEM216 cause Joubert (JBTS2), Meckel (MKS2) and related syndromes 116
The immune responce of IL1 (IL1a/IL1b) in thalassaemic subiects with HCV related chronic epatopathy 113
Osteogenesis Imperfecta/Ehlers–Danlos Overlap Syndrome and Neuroblastoma—Case Report and Review of Literature 113
Un caso di sindrome di Parry Romberg con anticorpi anti borrellia in un' area endemica per la malattia di Lyme 112
Su un caso di lissencefalia di tipo 1 e deficit di linfociti CD8+ 112
Prevalence of deafness-associated connexin-26 (GJB2) and connexin-30 (GJB6) pathogenic alleles in a large patient cohort from Eastern Sicily 112
TINU Syndrome: descrizione di un caso 110
Body weight changes and bipolar disorder: a molecular pathway analysis 109
APLV e dermatite atopica: risultati terapeutici con beclometasone 17,21-dipropionato per os. 109
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 109
Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature 106
Condrodisplasia Metafisaria di Schmid: descrizione di un caso 105
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome 105
Juvenile idiopathic arthritis: immunological and genetic factors 104
Livelli di leptina, grelina e obestatina in una popolazione siciliana di madri e neonati: dati preliminari 104
NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared. 103
Totale 22.079
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Categoria #
all - tutte 100.991
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 100.991
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20222.099 0 133 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
2025/202611.949 543 896 964 930 847 2.725 1.335 1.325 1.378 477 272 257
2026/2027854 270 584 0 0 0 0 0 0 0 0 0 0
Totale 34.723