IRIS UniCatt

Zollino, Marcella
 Distribuzione geografica
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Continente #
NA - Nord America 9.483
EU - Europa 7.238
AS - Asia 6.611
SA - Sud America 1.264
AF - Africa 181
OC - Oceania 27
Continente sconosciuto - Info sul continente non disponibili 6
Totale 24.810
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Nazione #
US - Stati Uniti d'America 9.223
SG - Singapore 3.065
DE - Germania 2.480
CN - Cina 1.554
SE - Svezia 1.056
BR - Brasile 1.048
IT - Italia 902
VN - Vietnam 619
UA - Ucraina 610
FR - Francia 523
PL - Polonia 323
GB - Regno Unito 322
IE - Irlanda 311
FI - Finlandia 214
ID - Indonesia 191
IN - India 191
JP - Giappone 158
RU - Federazione Russa 157
HK - Hong Kong 155
BD - Bangladesh 154
CA - Canada 141
TR - Turchia 125
NL - Olanda 75
IQ - Iraq 74
AR - Argentina 73
MX - Messico 67
BE - Belgio 60
ZA - Sudafrica 60
PK - Pakistan 55
ES - Italia 39
AT - Austria 38
SA - Arabia Saudita 37
KR - Corea 33
CO - Colombia 30
CI - Costa d'Avorio 27
CH - Svizzera 26
EC - Ecuador 26
AU - Australia 22
MA - Marocco 22
AE - Emirati Arabi Uniti 20
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
RO - Romania 12
TN - Tunisia 12
NP - Nepal 11
TW - Taiwan 11
KZ - Kazakistan 10
LT - Lituania 10
PH - Filippine 10
JM - Giamaica 9
AZ - Azerbaigian 8
GR - Grecia 8
TH - Thailandia 8
UY - Uruguay 8
CZ - Repubblica Ceca 7
DZ - Algeria 7
HN - Honduras 7
MN - Mongolia 7
MY - Malesia 7
NO - Norvegia 7
AL - Albania 6
CR - Costa Rica 6
ET - Etiopia 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
BB - Barbados 4
LK - Sri Lanka 4
LV - Lettonia 4
MM - Myanmar 4
OM - Oman 4
SV - El Salvador 4
DO - Repubblica Dominicana 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
EE - Estonia 2
GE - Georgia 2
GT - Guatemala 2
HR - Croazia 2
Totale 24.769
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Città #
Singapore 1.647
Chandler 1.155
Ashburn 1.076
San Jose 898
Dublin 302
Beijing 300
New York 290
Jacksonville 283
Warsaw 282
San Mateo 268
Ann Arbor 223
Nanjing 209
Los Angeles 197
Ho Chi Minh City 194
Wilmington 180
Jakarta 178
Lauterbourg 172
Woodbridge 169
Nürnberg 162
Redmond 160
Cattolica 153
Hanoi 151
Fairfield 148
Houston 137
Milan 137
Tokyo 137
Boston 134
Frankfurt am Main 132
Hong Kong 132
Hefei 124
Seattle 123
Munich 121
Rome 120
São Paulo 117
Dearborn 116
Dallas 98
Moscow 94
Lawrence 93
Cambridge 88
Santa Clara 78
Buffalo 74
Nanchang 74
Redwood City 71
Marseille 65
Chicago 61
Izmir 61
Princeton 56
Helsinki 54
Nuremberg 47
Norwalk 44
Detroit 43
The Dalles 43
Council Bluffs 42
Hangzhou 41
Mountain View 40
Shenyang 40
Tianjin 40
Boardman 39
London 39
Lappeenranta 38
Montreal 38
Paris 38
Brussels 37
Kent 37
Changsha 36
Guangzhou 36
Bremen 35
Da Nang 35
Orem 35
Lancaster 34
Stockholm 33
Fremont 32
Kunming 32
Chennai 31
Denver 31
Atlanta 30
Johannesburg 30
Seoul 30
Brooklyn 29
Phoenix 29
Toronto 29
Zhengzhou 29
Abidjan 27
North Bergen 27
Istanbul 26
Hebei 25
Shanghai 25
University Park 25
Baghdad 23
Belo Horizonte 23
Haiphong 22
Rio de Janeiro 22
Brasília 21
Jiaxing 21
San Francisco 21
Curitiba 20
San Diego 20
Charlotte 19
Dhaka 19
Düsseldorf 18
Totale 12.920
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Nome #
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. 361
Pembrolizumab as first-line treatment for metastatic uveal melanoma 347
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 318
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 269
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 250
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 242
PTPN22 and myasthenia gravis: replication in an Italian population and meta-analysis of literature data 241
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 219
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 214
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 204
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 201
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 198
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 191
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 191
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 188
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 184
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 184
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. 183
Matrin 3 variants are frequent in Italian ALS patients 183
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 182
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 181
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 181
Low incidence of secondary neoplasia after autotransplantation for lymphoproliferative disease: the role of pre-transplant therapy 179
OCULAR MANIFESTATIONS IN WOLF-HIRSCHHORN SYNDROME 177
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 175
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 175
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 170
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 170
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 169
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 168
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype 168
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 167
Unique genomic profile associated with pediatric uveal melanoma 167
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility 166
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 166
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 166
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
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 165
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
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 161
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience 161
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 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
A novel L67P SOD1 mutation in an Italian ALS patient. 158
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 158
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 158
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 157
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 157
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 156
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome 155
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 154
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 154
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience 153
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 153
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 152
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 152
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 151
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 151
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case 150
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 150
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 150
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 150
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 149
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 147
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 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
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 142
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 141
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy 139
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 138
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 138
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 138
High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines 138
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 137
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 135
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 133
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter 133
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 133
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 133
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 132
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 131
HFE p.H63D polymorphism does not influence ALS phenotype and survival 130
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 129
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 129
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 128
Exploring the Role of CCNF Variants in Italian ALS Patients 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. 127
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 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
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 126
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly 126
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 123
Totale 17.119
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Categoria #
all - tutte 99.606
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 99.606
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202122 0 0 0 0 0 0 0 0 0 0 0 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
2025/20269.036 1.274 264 486 1.014 1.614 515 1.647 466 546 615 340 255
Totale 25.096