IRIS UniCatt

Zollino, Marcella
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 10.319
EU - Europa 7.329
AS - Asia 6.660
SA - Sud America 1.269
Continente sconosciuto - Info sul continente non disponibili 295
AF - Africa 181
OC - Oceania 28
Totale 26.081
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 10.019
SG - Singapore 3.071
DE - Germania 2.482
CN - Cina 1.561
SE - Svezia 1.056
BR - Brasile 1.052
IT - Italia 970
VN - Vietnam 619
UA - Ucraina 612
FR - Francia 528
PL - Polonia 325
GB - Regno Unito 324
IE - Irlanda 311
FI - Finlandia 214
IN - India 192
ID - Indonesia 191
BD - Bangladesh 183
CA - Canada 162
JP - Giappone 159
RU - Federazione Russa 157
HK - Hong Kong 155
TR - Turchia 127
NL - Olanda 79
AR - Argentina 74
IQ - Iraq 74
MX - Messico 68
BE - Belgio 60
ZA - Sudafrica 60
PK - Pakistan 55
ES - Italia 43
AT - Austria 38
SA - Arabia Saudita 37
KR - Corea 33
CO - Colombia 30
CH - Svizzera 28
CI - Costa d'Avorio 27
EC - Ecuador 26
AU - Australia 23
MA - Marocco 22
AE - Emirati Arabi Uniti 21
CL - Cile 20
IR - Iran 20
VE - Venezuela 20
UZ - Uzbekistan 19
KE - Kenya 18
PT - Portogallo 18
PE - Perù 17
PY - Paraguay 15
JO - Giordania 14
IL - Israele 13
EG - Egitto 12
JM - Giamaica 12
RO - Romania 12
TN - Tunisia 12
NP - Nepal 11
TW - Taiwan 11
KZ - Kazakistan 10
LT - Lituania 10
PH - Filippine 10
HN - Honduras 9
TH - Thailandia 9
AZ - Azerbaigian 8
CR - Costa Rica 8
GR - Grecia 8
UY - Uruguay 8
BB - Barbados 7
CZ - Repubblica Ceca 7
DZ - Algeria 7
MN - Mongolia 7
MY - Malesia 7
NO - Norvegia 7
AL - Albania 6
ET - Etiopia 6
LB - Libano 6
TT - Trinidad e Tobago 6
BO - Bolivia 5
BY - Bielorussia 5
BZ - Belize 5
DK - Danimarca 5
KG - Kirghizistan 5
SV - El Salvador 5
A2 - ???statistics.table.value.countryCode.A2??? 4
AO - Angola 4
DO - Repubblica Dominicana 4
LK - Sri Lanka 4
LV - Lettonia 4
MM - Myanmar 4
OM - Oman 4
GA - Gabon 3
KW - Kuwait 3
MT - Malta 3
NI - Nicaragua 3
PA - Panama 3
PS - Palestinian Territory 3
SN - Senegal 3
AM - Armenia 2
CY - Cipro 2
EE - Estonia 2
GE - Georgia 2
GT - Guatemala 2
Totale 25.747
Salva come PNG Salva come JPEG
Città #
Singapore 1.653
Ashburn 1.175
Chandler 1.155
San Jose 927
New York 328
Beijing 305
Dublin 302
Jacksonville 284
Warsaw 283
San Mateo 268
Los Angeles 246
Ann Arbor 223
Nanjing 209
Ho Chi Minh City 194
Wilmington 186
Jakarta 178
Lauterbourg 172
Woodbridge 169
Nürnberg 162
Redmond 160
Cattolica 153
Hanoi 151
Fairfield 149
Milan 147
Houston 144
Tokyo 138
Boston 136
Frankfurt am Main 132
Hong Kong 132
Seattle 132
Rome 128
Hefei 124
Munich 122
Dallas 120
Dearborn 117
São Paulo 117
Buffalo 113
Moscow 94
Lawrence 93
Santa Clara 93
Cambridge 88
Nanchang 74
Redwood City 71
Chicago 69
Marseille 65
Izmir 61
Princeton 56
Helsinki 54
Nuremberg 47
Detroit 44
Norwalk 44
The Dalles 43
Council Bluffs 42
Hangzhou 41
London 40
Montreal 40
Mountain View 40
Shenyang 40
Tianjin 40
Boardman 39
Paris 39
Atlanta 38
Lappeenranta 38
Brussels 37
Kent 37
Changsha 36
Guangzhou 36
Orem 36
Bremen 35
Da Nang 35
Denver 35
Brooklyn 34
Lancaster 34
Toronto 34
Phoenix 33
San Francisco 33
Stockholm 33
Fremont 32
Kunming 32
Chennai 31
Johannesburg 30
Seoul 30
Zhengzhou 29
North Bergen 28
Abidjan 27
Istanbul 26
Belo Horizonte 25
Hebei 25
Shanghai 25
University Park 25
Baghdad 23
Charlotte 23
Haiphong 22
Rio de Janeiro 22
Brasília 21
Jiaxing 21
Curitiba 20
San Diego 20
Dhaka 19
Mexico City 19
Totale 13.330
Salva come PNG Salva come JPEG
Nome #
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 481
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 449
Natural History of Young-Adult Amyotrophic Lateral Sclerosis. 363
Pembrolizumab as first-line treatment for metastatic uveal melanoma 352
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 321
Exploring the Role of CCNF Variants in Italian ALS Patients 302
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 274
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 273
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 252
PTPN22 and myasthenia gravis: replication in an Italian population and meta-analysis of literature data 243
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 243
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 222
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 219
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 208
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 205
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 205
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 201
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 195
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 195
Reduced BRCA1 expression due to promoter hypermethylation in therapy-related acute myeloid leukaemia 193
Matrin 3 variants are frequent in Italian ALS patients 190
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 190
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 188
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 186
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 186
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. 185
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 184
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 183
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 180
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 180
Low incidence of secondary neoplasia after autotransplantation for lymphoproliferative disease: the role of pre-transplant therapy 179
OCULAR MANIFESTATIONS IN WOLF-HIRSCHHORN SYNDROME 177
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype 177
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 173
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 172
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility 171
A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders 171
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 170
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 169
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 169
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype 169
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 169
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 168
Unique genomic profile associated with pediatric uveal melanoma 168
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 168
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 165
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 164
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 163
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis 163
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience 163
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 162
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 161
The ring 14 syndrome 161
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 161
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 160
A novel L67P SOD1 mutation in an Italian ALS patient. 159
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 159
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family 159
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 157
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 156
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome 155
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 155
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 155
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 154
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience 154
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 152
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 151
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case 151
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 151
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 151
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 150
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 148
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 147
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 147
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 146
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 144
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8 143
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 142
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy 142
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 142
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 141
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 140
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 139
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 138
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 137
Lymph node blast crisis in chronic myeloid leukemia mimicking T-immunoblastic lymphoma. 136
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014 136
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 135
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 135
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 134
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter 134
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 133
HFE p.H63D polymorphism does not influence ALS phenotype and survival 131
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 131
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings. 130
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 130
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 130
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 129
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 129
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. 128
Totale 17.887
Salva come PNG Salva come JPEG
Categoria #
all - tutte 104.027
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 104.027
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.315 0 116 30 164 55 35 31 247 70 75 220 272
2022/20233.113 399 484 241 468 190 395 123 259 329 59 99 67
2023/20241.658 76 445 75 117 62 281 105 62 16 67 158 194
2024/20253.191 86 97 211 118 256 122 100 154 499 261 655 632
2025/20269.046 1.274 264 486 1.014 1.614 515 1.647 466 546 615 340 265
2026/2027975 649 326 0 0 0 0 0 0 0 0 0 0
Totale 26.081