IRIS PubliCatt

Zollino, Marcella
 Distribuzione geografica
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Continente #
EU - Europa 5.888
NA - Nord America 5.702
AS - Asia 1.696
AF - Africa 29
OC - Oceania 20
SA - Sud America 18
Continente sconosciuto - Info sul continente non disponibili 5
Totale 13.358
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Nazione #
US - Stati Uniti d'America 5.655
DE - Germania 2.215
SE - Svezia 1.021
CN - Cina 809
IT - Italia 635
UA - Ucraina 594
SG - Singapore 430
IE - Irlanda 298
PL - Polonia 265
FR - Francia 219
GB - Regno Unito 193
ID - Indonesia 176
FI - Finlandia 149
RU - Federazione Russa 118
IN - India 90
TR - Turchia 83
BE - Belgio 50
NL - Olanda 44
CA - Canada 40
JP - Giappone 27
CI - Costa d'Avorio 26
AU - Australia 20
CH - Svizzera 20
VN - Vietnam 17
IR - Iran 16
HK - Hong Kong 13
PT - Portogallo 11
ES - Italia 10
RO - Romania 8
CL - Cile 7
NO - Norvegia 7
CZ - Repubblica Ceca 6
AE - Emirati Arabi Uniti 5
BR - Brasile 5
BZ - Belize 5
GR - Grecia 5
KR - Corea 5
A2 - ???statistics.table.value.countryCode.A2??? 4
KZ - Kazakistan 4
LT - Lituania 4
IL - Israele 3
MT - Malta 3
MY - Malesia 3
PE - Perù 3
TW - Taiwan 3
BD - Bangladesh 2
CO - Colombia 2
DK - Danimarca 2
EE - Estonia 2
HU - Ungheria 2
KW - Kuwait 2
TH - Thailandia 2
AT - Austria 1
BO - Bolivia 1
BY - Bielorussia 1
DZ - Algeria 1
EU - Europa 1
HR - Croazia 1
IS - Islanda 1
JO - Giordania 1
KH - Cambogia 1
LK - Sri Lanka 1
LV - Lettonia 1
MX - Messico 1
PA - Panama 1
PH - Filippine 1
PK - Pakistan 1
RS - Serbia 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
ZA - Sudafrica 1
Totale 13.358
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Città #
Chandler 1.155
Ashburn 520
Singapore 331
Dublin 293
Jacksonville 280
San Mateo 265
Warsaw 243
Ann Arbor 223
Nanjing 209
New York 179
Wilmington 179
Jakarta 176
Woodbridge 169
Nürnberg 162
Redmond 159
Cattolica 153
Fairfield 148
Dearborn 116
Houston 115
Boston 112
Seattle 101
Milan 100
Lawrence 93
Moscow 92
Beijing 81
Nanchang 74
Redwood City 71
Marseille 64
Izmir 60
Rome 59
Munich 55
Princeton 55
Los Angeles 45
Norwalk 44
Cambridge 41
Mountain View 40
Detroit 39
Hangzhou 38
Shenyang 38
Changsha 35
Brussels 34
Bremen 32
Fremont 32
Kunming 32
Lancaster 31
Boardman 30
Tianjin 27
Zhengzhou 27
Abidjan 26
Guangzhou 25
Hebei 25
University Park 25
Lappeenranta 23
Jiaxing 21
London 20
Istanbul 18
Helsinki 17
San Diego 17
Auburn Hills 16
Chicago 16
Simi Valley 16
Toronto 16
Waanrode 16
Leawood 15
Ottawa 13
Buffalo 12
Pune 12
Ypsilanti 12
Augusta 11
Hanoi 11
Jinan 11
Kraków 11
Naaldwijk 11
Shanghai 11
Fuzhou 10
Santa Clara 10
Washington 10
Busto Arsizio 9
Phoenix 9
Clearwater 8
Greensboro 8
Hefei 8
Hong Kong 8
Monza 8
Paris 8
Philadelphia 8
San Jose 8
Tokyo 8
Ardabil 7
Costa Mesa 7
Florence 7
Lanzhou 7
Trieste 7
Andover 6
Changchun 6
Frankfurt am Main 6
Kish 6
Las Vegas 6
Salt Lake City 6
Altamura 5
Totale 7.280
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 388
Natural History of Young-Adult Amyotrophic Lateral Sclerosis. 302
Pembrolizumab as first-line treatment for metastatic uveal melanoma 270
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 263
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 206
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 197
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 191
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 165
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 163
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 147
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 135
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 132
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 130
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. 129
Reduced BRCA1 expression due to promoter hypermethylation in therapy-related acute myeloid leukaemia 124
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 123
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 121
PTPN22 and myasthenia gravis: replication in an Italian population and meta-analysis of literature data 117
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 116
OCULAR MANIFESTATIONS IN WOLF-HIRSCHHORN SYNDROME 116
Unique genomic profile associated with pediatric uveal melanoma 116
Low incidence of secondary neoplasia after autotransplantation for lymphoproliferative disease: the role of pre-transplant therapy 115
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 114
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 114
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 112
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 112
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience 111
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 110
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 110
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype 109
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 108
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 108
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience 107
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 107
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case 105
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 103
Matrin 3 variants are frequent in Italian ALS patients 103
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 102
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 102
A novel L67P SOD1 mutation in an Italian ALS patient. 101
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 101
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 101
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 101
The ring 14 syndrome 100
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 98
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 97
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 96
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy 96
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis 95
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 93
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 93
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 92
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 92
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 92
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 91
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 91
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 91
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 90
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 90
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 90
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 89
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 89
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 86
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 85
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 84
HFE p.H63D polymorphism does not influence ALS phenotype and survival 84
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 84
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 84
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 82
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 82
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 82
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 82
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. 82
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 80
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 80
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 80
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 79
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 78
Is MED13L-related intellectual disability a recognizable syndrome? 78
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 76
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 76
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 76
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 74
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 74
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 73
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 73
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 73
Lymph node blast crisis in chronic myeloid leukemia mimicking T-immunoblastic lymphoma. 72
"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 71
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 71
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 68
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 68
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 67
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 66
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 66
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter 65
Linguistic and psychomotor development in children with chromosome 14 deletions. 65
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 65
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 65
Burkitt lymphoma as fourth neoplasia in a patient affected by cowden syndrome with a novel PTEN germline pathogenic variant 65
Totale 10.633
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Categoria #
all - tutte 56.931
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 56.931
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.164 0 0 0 0 113 191 203 71 100 114 219 153
2020/20211.273 83 129 35 132 175 64 155 27 167 71 213 22
2021/20221.421 111 115 30 164 55 35 31 244 70 75 220 271
2022/20233.111 398 484 241 467 190 395 123 259 329 59 99 67
2023/20241.652 75 443 75 117 62 281 104 62 16 67 157 193
2024/2025733 86 97 210 118 222 0 0 0 0 0 0 0
Totale 13.579