IRIS
BRIUGLIA, Silvana
 Distribuzione geografica
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Continente #
EU - Europa 17.672
NA - Nord America 11.196
AS - Asia 4.941
SA - Sud America 1.968
Continente sconosciuto - Info sul continente non disponibili 319
AF - Africa 142
OC - Oceania 12
Totale 36.250
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Nazione #
US - Stati Uniti d'America 10.894
IT - Italia 7.750
RU - Federazione Russa 4.751
SG - Singapore 2.195
BR - Brasile 1.690
CN - Cina 1.384
IE - Irlanda 1.299
SE - Svezia 1.168
DE - Germania 566
UA - Ucraina 546
HK - Hong Kong 490
FR - Francia 451
FI - Finlandia 307
VN - Vietnam 266
GB - Regno Unito 251
NL - Olanda 192
PL - Polonia 117
CA - Canada 108
IN - India 106
AR - Argentina 94
BD - Bangladesh 87
MX - Messico 64
AT - Austria 53
TR - Turchia 53
IQ - Iraq 51
ES - Italia 43
ZA - Sudafrica 40
EC - Ecuador 39
CH - Svizzera 38
CO - Colombia 38
JP - Giappone 35
PK - Pakistan 35
BE - Belgio 34
VE - Venezuela 33
CR - Costa Rica 28
ID - Indonesia 27
MA - Marocco 26
IR - Iran 25
UZ - Uzbekistan 25
IL - Israele 21
PY - Paraguay 19
JM - Giamaica 18
PE - Perù 18
SA - Arabia Saudita 18
CZ - Repubblica Ceca 17
HN - Honduras 16
CL - Cile 15
EG - Egitto 15
NI - Nicaragua 14
CW - ???statistics.table.value.countryCode.CW??? 13
GT - Guatemala 13
KZ - Kazakistan 13
RO - Romania 13
JO - Giordania 12
BO - Bolivia 11
NP - Nepal 11
AU - Australia 10
OM - Oman 10
TN - Tunisia 10
EU - Europa 9
GR - Grecia 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
AL - Albania 7
DZ - Algeria 7
SV - El Salvador 7
TT - Trinidad e Tobago 7
AO - Angola 6
CI - Costa d'Avorio 6
DK - Danimarca 6
LB - Libano 6
PR - Porto Rico 6
PT - Portogallo 6
SM - San Marino 6
DO - Repubblica Dominicana 5
SK - Slovacchia (Repubblica Slovacca) 5
EE - Estonia 4
GP - Guadalupe 4
KG - Kirghizistan 4
NO - Norvegia 4
RS - Serbia 4
SC - Seychelles 4
TH - Thailandia 4
AM - Armenia 3
BA - Bosnia-Erzegovina 3
BB - Barbados 3
BS - Bahamas 3
GE - Georgia 3
HU - Ungheria 3
NG - Nigeria 3
PA - Panama 3
TW - Taiwan 3
BG - Bulgaria 2
BN - Brunei Darussalam 2
Totale 35.911
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Città #
Moscow 1.527
Ashburn 1.316
Dublin 1.298
Singapore 1.152
Jacksonville 1.085
Chandler 972
Dallas 930
Rome 530
Milan 509
San Jose 490
Hong Kong 489
Council Bluffs 465
Beijing 450
Nyköping 445
The Dalles 290
Dearborn 289
Naples 276
Princeton 237
Cambridge 225
Lauterbourg 202
Medford 198
Des Moines 197
Los Angeles 181
Boardman 178
Messina 162
Ann Arbor 140
Buffalo 114
Catania 112
São Paulo 112
Palermo 111
New York 108
Munich 106
Warsaw 106
Florence 100
Bologna 87
Ho Chi Minh City 80
Woodbridge 78
Bari 75
Tianjin 72
Redondo Beach 70
Turin 63
Pisa 62
Santa Clara 61
Wilmington 59
Hanoi 58
Padova 56
Helsinki 52
Venice 52
Brescia 50
Guangzhou 49
Rio de Janeiro 49
Belo Horizonte 48
Houston 48
Verona 48
Genoa 41
Jinan 41
Orem 40
Reggio Emilia 38
Shenzhen 38
Frankfurt am Main 37
Vienna 36
Pescara 34
San Mateo 34
Turku 34
Tokyo 33
Parma 32
Chennai 31
Seattle 31
Brasília 30
Phoenix 30
Shenyang 30
Washington 30
Napoli 29
Brussels 28
Chicago 28
Nuremberg 28
Lancaster 27
Livorno 27
Montreal 27
Columbus 26
Nanjing 26
Baghdad 24
Curitiba 24
Atlanta 22
Johannesburg 22
Lucca 22
Porto Alegre 22
San José 22
Tashkent 22
Brooklyn 21
Haikou 21
Manchester 21
Tehran 21
Cava de' Tirreni 20
Ferrara 20
Monza 20
Prato 20
London 19
Taranto 19
Toronto 19
Totale 17.586
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Nome #
UN CASO DI MICRODUPLICAZIONE Xp22.31 4.395
Lipodistrofia parziale tipo Dunnigan: aspetti clinici e genetici 1.158
Sindrome del vomito ciclico: identificazione della mutazione 3243 del DNA mitocondriale 810
Microduplicazione Xp22.32 -> p22.31: descrizione di una fratria 802
TRISOMIA 14 A MOSAICO:DESCRIZIONE DI UN CASO 355
Identificazione di una nuova famiglia italiana con geniospasmo ereditario 256
Le Trisomie.Compendio di Pediatria generale e specialistica, sezione Genetica. 254
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. 252
A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy Loss 251
Autoimmune liver disease in Noonan Syndrome. 251
Individuazione del locus genico della sindrome di Nablus 247
Age and sex prevalence estimate of Joubert syndrome in Italy 238
Ace and angiotensin type 2 receptor genes genotype distributions in italian childhood with congenital uropathies 233
A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1 228
5. Sindrome di Borjeson-Forssman-Lehmann: descrizione di un caso 219
Febbre Mediterranea Familiare e mutazioni in eterozigosi: forma di ereditarietà pseudodominante? 215
Analisi molecolare di polimorfismi dei geni ACE e AT2R in bambini affetti da patologie congenite del rene e delle vie urinarie 214
Allelic association of gene markers on chromosome 11q in Italian families with atopy 214
La sindrome di Leri-Weill: una diagnosi essenzialmente clinicaLeri-Weill syndrome: a clinical diagnosis 213
CNVs inform the biological network of Autism spectrum disorder 211
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders 209
Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): Association with clinical severity and phenotype. 205
Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies 200
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting 195
Allelic association of gene markers in the FC epsilon receptor I beta gene and IL-4 gene promoter in Italian atopic children 194
Geniospasmo ereditario: identificata una nuova fratria 194
Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child 188
3243 BP Mitochondrial DNA mutation in an Italian family with cyclic vomiting syndrome 185
H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol 183
Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? 182
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 181
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients 180
Metaphyseal chondrodysplasia Schmid type: a diagnosis delayed. 180
Talassemia major ed allergia: conferma dell' hygiene hypotesis. 178
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia 176
Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion 172
Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence? 172
FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family 171
aCGH nella diagnostica delle sindromi dismorfiche: nostra casistica 167
Allelic association of gene markers on chromosome 11q in Italian families with atopy 166
Serum levels of interleukin-18 in splenectomized and nonsplenectomized thalassemic patients: preliminary considerations. 164
Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al 164
Analisi molecolare del polimorfismo -112G/A del gene uteroglobin-related protein 1 ( UGRP1) in pazienti in età pediatrica affetti da asma atopico. 162
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. 161
Bassa statura e sindromi genetiche 160
Sindrome di Joubert e altre sindromi con segno del dente molare: prevalenza e spettro fenotipico dei geni noti 158
Pontine Tegmental Cap Dysplasia: neurosviluppo e profilo cognitivo di un paziente adolescente 158
A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review 158
Mutations in TMEM216 cause Joubert (JBTS2), Meckel (MKS2) and related syndromes 157
Blefarofimosi e sindromi correlateBlepharophimosis and related Syndromes 156
LA SINDROME DI DIGEORGE: PECULIARITÀ CLINICHE E GENETICHE 155
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 154
Analisi molecolare di polimorfismi genetici del recettore FcεIβ della regione promotrice dell' IL-4 in famiglie del Sud.Italia con atopia 154
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) 154
Artrite idiopatica giovanile: aspetti immunologici e geneticiJuvenile idiopathic arthritis: immunological and genetic factors 151
Oxidative stress in children with Down's syndrome 150
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders 150
Aspetti immunogenetici delle infezioni delle vie genitali femminili da Clamydia Trachomatis e Trichomonas Vaginalis 147
Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene andIL-4 gene promoter in Italian atopic families. 147
Livelli sierici di IL18 in soggetti talassemici splenectomizzati e non 145
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response. 142
Molecular Pathways within Autism Spectrum Disorder Endophenotypes 142
Necrobiosis lipoidica diabeticorum in a male child 141
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia (OMIM 248910) 139
Protein carbonyl group content in patients affected by familiar chronic nail candidiasis 135
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects 135
Hypothyroidism and oxidative stress in Down syndrome 134
Presence of Herlichia Chaffeensis in Italy. A case of Human Monocytic Ehrlichiosis 133
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation. 133
Molecular analysis of sequence variants in the Fc epsilon receptor I beta gene and IL-4 gene promoter in Italian atopic families 133
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A 132
Un caso di cromosoma Y isodicentrico e bassa statura 132
Linear scleroderma 'en coup de sabre' associated with facial atrophy in a patient seropositive for Borrelia burgdorferi: a true case of molecular mimicry? 132
Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women 131
Su un caso di microdelezione 6p25.1-6p25.3 130
Deficit di sottoclassi di IgG: tra storia e attualità 130
Candidiasi mucocutanea cronica tra storia e novità 128
MARKERS DI STRESS OSSIDATIVO IN BAMBINI CON SINDROME DI DOWN 128
Le sindromi febbrili ereditarie potrebbero essere a trasmissione oligogenica 128
Linfoistiocitosi Emofagocitica e sindrome di Down: descrizione di un caso clinicoHemophagocytic lymphohistiocytosis and Down syndrome: description of a clinical case 128
Sindrome di Goldenhar: descrizione di un caso clinico 125
Sindrome di Ohdo con macrocefalia ed edema nucale: descrizione di un caso 124
Familial Mediterranean fever: genetic and immunological aspects 122
Osteogenesis Imperfecta/Ehlers–Danlos Overlap Syndrome and Neuroblastoma—Case Report and Review of Literature 122
The immune responce of IL1 (IL1a/IL1b) in thalassaemic subiects with HCV related chronic epatopathy 121
Neurofibromatosi di tipo 1: aspetti genetici e clinici 121
Prevalence of deafness-associated connexin-26 (GJB2) and connexin-30 (GJB6) pathogenic alleles in a large patient cohort from Eastern Sicily 121
Mutations in TMEM216 cause Joubert (JBTS2), Meckel (MKS2) and related syndromes 120
Un caso di sindrome di Parry Romberg con anticorpi anti borrellia in un' area endemica per la malattia di Lyme 119
Su un caso di lissencefalia di tipo 1 e deficit di linfociti CD8+ 118
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects 117
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 116
Confirmation of Nablus Mask-Like Facial Syndrome 116
Body weight changes and bipolar disorder: a molecular pathway analysis 113
APLV e dermatite atopica: risultati terapeutici con beclometasone 17,21-dipropionato per os. 113
TINU Syndrome: descrizione di un caso 113
Juvenile idiopathic arthritis: immunological and genetic factors 112
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer 111
Livelli di leptina, grelina e obestatina in una popolazione siciliana di madri e neonati: dati preliminari 110
Condrodisplasia Metafisaria di Schmid: descrizione di un caso 109
Totale 22.808
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Categoria #
all - tutte 107.304
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 107.304
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.783 0 0 0 0 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
2026/20272.381 270 698 563 830 20 0 0 0 0 0 0 0
Totale 36.250