IRIS UniCatt

Zollino, Marcella
 Distribuzione geografica
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Continente #
NA - Nord America 9.114
EU - Europa 7.143
AS - Asia 6.532
SA - Sud America 1.256
AF - Africa 179
OC - Oceania 27
Continente sconosciuto - Info sul continente non disponibili 6
Totale 24.257
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Nazione #
US - Stati Uniti d'America 8.874
SG - Singapore 3.061
DE - Germania 2.480
CN - Cina 1.545
SE - Svezia 1.056
BR - Brasile 1.045
IT - Italia 822
VN - Vietnam 619
UA - Ucraina 609
FR - Francia 521
GB - Regno Unito 322
PL - Polonia 321
IE - Irlanda 311
FI - Finlandia 214
ID - Indonesia 191
IN - India 190
JP - Giappone 158
RU - Federazione Russa 157
HK - Hong Kong 153
CA - Canada 130
TR - Turchia 125
BD - Bangladesh 91
IQ - Iraq 74
NL - Olanda 74
AR - Argentina 72
MX - Messico 65
BE - Belgio 59
ZA - Sudafrica 58
PK - Pakistan 55
AT - Austria 38
ES - Italia 37
SA - Arabia Saudita 37
KR - Corea 33
CI - Costa d'Avorio 27
CO - Colombia 27
EC - Ecuador 26
AU - Australia 22
CH - Svizzera 22
MA - Marocco 22
AE - Emirati Arabi Uniti 20
CL - Cile 20
IR - Iran 20
UZ - Uzbekistan 19
VE - Venezuela 19
KE - Kenya 18
PT - Portogallo 18
PE - Perù 17
PY - Paraguay 15
JO - Giordania 14
IL - Israele 13
EG - Egitto 12
RO - Romania 12
TN - Tunisia 12
NP - Nepal 11
TW - Taiwan 11
KZ - Kazakistan 10
LT - Lituania 10
PH - Filippine 10
AZ - Azerbaigian 8
GR - Grecia 8
JM - Giamaica 8
TH - Thailandia 8
UY - Uruguay 8
CZ - Repubblica Ceca 7
DZ - Algeria 7
MN - Mongolia 7
MY - Malesia 7
NO - Norvegia 7
AL - Albania 6
CR - Costa Rica 6
ET - Etiopia 6
HN - Honduras 6
BO - Bolivia 5
BY - Bielorussia 5
BZ - Belize 5
DK - Danimarca 5
KG - Kirghizistan 5
LB - Libano 5
TT - Trinidad e Tobago 5
A2 - ???statistics.table.value.countryCode.A2??? 4
AO - Angola 4
LK - Sri Lanka 4
LV - Lettonia 4
MM - Myanmar 4
OM - Oman 4
BB - Barbados 3
GA - Gabon 3
KW - Kuwait 3
MT - Malta 3
PA - Panama 3
PS - Palestinian Territory 3
SN - Senegal 3
AM - Armenia 2
CY - Cipro 2
DO - Repubblica Dominicana 2
EE - Estonia 2
GE - Georgia 2
GT - Guatemala 2
HU - Ungheria 2
KH - Cambogia 2
Totale 24.219
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Città #
Singapore 1.643
Chandler 1.155
Ashburn 1.038
San Jose 867
Dublin 302
Beijing 296
Jacksonville 283
Warsaw 282
New York 269
San Mateo 268
Ann Arbor 223
Nanjing 209
Ho Chi Minh City 194
Los Angeles 180
Wilmington 180
Jakarta 178
Lauterbourg 172
Woodbridge 169
Nürnberg 162
Redmond 160
Cattolica 153
Hanoi 151
Fairfield 148
Tokyo 137
Houston 135
Boston 134
Frankfurt am Main 132
Milan 131
Hong Kong 130
Hefei 124
Seattle 122
Munich 121
São Paulo 117
Dearborn 116
Rome 114
Moscow 94
Lawrence 93
Cambridge 88
Dallas 81
Nanchang 74
Redwood City 71
Santa Clara 71
Marseille 65
Izmir 61
Chicago 60
Buffalo 59
Princeton 56
Helsinki 54
Nuremberg 47
Norwalk 44
Council Bluffs 42
Detroit 42
Hangzhou 41
Mountain View 40
Shenyang 40
The Dalles 40
Tianjin 40
London 39
Lappeenranta 38
Paris 38
Brussels 37
Montreal 37
Guangzhou 36
Kent 36
Bremen 35
Changsha 35
Da Nang 35
Orem 35
Lancaster 34
Stockholm 33
Fremont 32
Kunming 32
Boardman 31
Chennai 31
Denver 30
Seoul 30
Atlanta 29
Johannesburg 29
Phoenix 29
Zhengzhou 29
Abidjan 27
North Bergen 27
Istanbul 26
Toronto 26
Hebei 25
University Park 25
Brooklyn 24
Shanghai 24
Baghdad 23
Belo Horizonte 23
Haiphong 22
Brasília 21
Jiaxing 21
Rio de Janeiro 21
Curitiba 20
San Diego 20
Dhaka 19
San Francisco 19
Düsseldorf 18
Mexico City 18
Totale 12.717
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 446
Natural History of Young-Adult Amyotrophic Lateral Sclerosis. 360
Pembrolizumab as first-line treatment for metastatic uveal melanoma 342
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 315
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 272
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 267
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 248
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 239
PTPN22 and myasthenia gravis: replication in an Italian population and meta-analysis of literature data 236
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 215
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 213
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 205
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 203
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 198
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 196
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 191
Reduced BRCA1 expression due to promoter hypermethylation in therapy-related acute myeloid leukaemia 190
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 188
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 187
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 183
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 182
Matrin 3 variants are frequent in Italian ALS patients 182
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. 181
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 181
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 180
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 180
Low incidence of secondary neoplasia after autotransplantation for lymphoproliferative disease: the role of pre-transplant therapy 179
OCULAR MANIFESTATIONS IN WOLF-HIRSCHHORN SYNDROME 176
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 170
Unique genomic profile associated with pediatric uveal melanoma 167
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 166
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 166
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype 166
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 165
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 165
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 165
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 165
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 163
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 163
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 162
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis 161
The ring 14 syndrome 161
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience 161
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 160
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 159
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 159
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 159
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 158
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 157
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 155
A novel L67P SOD1 mutation in an Italian ALS patient. 155
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 155
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 154
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 153
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 153
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience 153
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 151
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome 150
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 150
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 150
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case 149
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 148
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 148
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 147
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 147
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 147
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 146
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 145
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 144
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 142
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 141
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 141
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 140
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 138
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 138
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 137
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 137
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy 137
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 136
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 136
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 135
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 133
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 132
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 132
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter 131
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 128
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 127
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 127
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 127
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 127
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. 126
HFE p.H63D polymorphism does not influence ALS phenotype and survival 126
"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 126
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 125
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 124
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly 124
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 122
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia 121
LETM1 couples mitochondrial DNA metabolism and nutrient preference 121
Is MED13L-related intellectual disability a recognizable syndrome? 120
Totale 16.810
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Categoria #
all - tutte 94.882
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 94.882
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021236 0 0 0 0 0 0 0 0 0 0 214 22
2021/20221.426 111 116 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
2025/20268.483 1.274 264 486 1.014 1.614 515 1.647 466 546 615 42 0
Totale 24.543