IRIS PubliCatt

Zollino, Marcella
 Distribuzione geografica
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Continente #
EU - Europa 5.805
NA - Nord America 5.632
AS - Asia 1.244
AF - Africa 29
OC - Oceania 20
SA - Sud America 18
Continente sconosciuto - Info sul continente non disponibili 5
Totale 12.753
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Nazione #
US - Stati Uniti d'America 5.595
DE - Germania 2.205
SE - Svezia 1.021
CN - Cina 776
IT - Italia 602
UA - Ucraina 594
IE - Irlanda 298
PL - Polonia 265
FR - Francia 216
SG - Singapore 196
GB - Regno Unito 177
FI - Finlandia 146
RU - Federazione Russa 117
IN - India 89
TR - Turchia 83
BE - Belgio 45
NL - Olanda 44
CA - Canada 30
CI - Costa d'Avorio 26
JP - Giappone 26
AU - Australia 20
CH - Svizzera 19
IR - Iran 16
VN - Vietnam 16
HK - Hong Kong 12
PT - Portogallo 11
ES - Italia 8
CL - Cile 7
NO - Norvegia 7
RO - Romania 6
BR - Brasile 5
BZ - Belize 5
CZ - Repubblica Ceca 5
GR - Grecia 5
KR - Corea 5
A2 - ???statistics.table.value.countryCode.A2??? 4
AE - Emirati Arabi Uniti 4
IL - Israele 3
KZ - Kazakistan 3
MT - Malta 3
MY - Malesia 3
PE - Perù 3
BD - Bangladesh 2
CO - Colombia 2
DK - Danimarca 2
EE - Estonia 2
HU - Ungheria 2
KW - Kuwait 2
TH - Thailandia 2
TW - Taiwan 2
AT - Austria 1
BO - Bolivia 1
BY - Bielorussia 1
DZ - Algeria 1
EU - Europa 1
IS - Islanda 1
KH - Cambogia 1
LK - Sri Lanka 1
MX - Messico 1
PA - Panama 1
PK - Pakistan 1
RS - Serbia 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
ZA - Sudafrica 1
Totale 12.753
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Città #
Chandler 1.155
Ashburn 518
Dublin 293
Jacksonville 280
San Mateo 265
Warsaw 243
Ann Arbor 223
Nanjing 209
Wilmington 179
New York 176
Woodbridge 169
Nürnberg 162
Redmond 159
Cattolica 153
Fairfield 148
Singapore 124
Dearborn 116
Houston 115
Boston 112
Seattle 101
Lawrence 93
Moscow 92
Milan 81
Beijing 79
Nanchang 74
Redwood City 71
Marseille 64
Izmir 60
Rome 58
Princeton 55
Munich 47
Norwalk 44
Los Angeles 42
Cambridge 41
Detroit 39
Mountain View 39
Hangzhou 38
Shenyang 36
Changsha 35
Bremen 32
Fremont 32
Kunming 32
Lancaster 31
Boardman 30
Brussels 29
Zhengzhou 27
Abidjan 26
Tianjin 26
Guangzhou 25
Hebei 25
University Park 25
Lappeenranta 23
Jiaxing 21
Istanbul 18
San Diego 17
Auburn Hills 16
Chicago 16
Simi Valley 16
Waanrode 16
Leawood 15
Helsinki 14
Buffalo 12
London 12
Pune 12
Ypsilanti 12
Augusta 11
Hanoi 11
Kraków 11
Naaldwijk 11
Toronto 11
Fuzhou 10
Jinan 10
Ottawa 10
Shanghai 10
Washington 10
Busto Arsizio 9
Clearwater 8
Greensboro 8
Hong Kong 8
Monza 8
Philadelphia 8
Phoenix 8
San Jose 8
Ardabil 7
Costa Mesa 7
Hefei 7
Lanzhou 7
Tokyo 7
Trieste 7
Andover 6
Changchun 6
Kish 6
Las Vegas 6
Paris 6
Salt Lake City 6
Altamura 5
Anzola dell'Emilia 5
Belize City 5
Braga 5
Brescia 5
Totale 6.821
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 384
Natural History of Young-Adult Amyotrophic Lateral Sclerosis. 299
Pembrolizumab as first-line treatment for metastatic uveal melanoma 266
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 259
Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. 202
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 193
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 187
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 163
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 160
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 143
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 128
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 127
Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case. 125
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 125
Reduced BRCA1 expression due to promoter hypermethylation in therapy-related acute myeloid leukaemia 121
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 119
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 118
PTPN22 and myasthenia gravis: replication in an Italian population and meta-analysis of literature data 115
Low incidence of secondary neoplasia after autotransplantation for lymphoproliferative disease: the role of pre-transplant therapy 113
Unique genomic profile associated with pediatric uveal melanoma 113
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 112
OCULAR MANIFESTATIONS IN WOLF-HIRSCHHORN SYNDROME 112
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 110
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 110
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 108
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 107
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 107
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience 107
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 106
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 105
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype 105
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case 103
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 103
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience 101
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 100
A novel L67P SOD1 mutation in an Italian ALS patient. 100
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 99
Matrin 3 variants are frequent in Italian ALS patients 99
A case of 45, X male: genetic evaluation and hormonal and metabolic follow-up in adult age. 98
ATXN2 polyQ intermediate repeats are a modifier of ALS survival 97
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 96
The ring 14 syndrome 96
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study 96
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 94
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients 94
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy 93
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 92
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 91
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 91
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 90
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis 89
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 89
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion 88
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 88
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 87
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome 86
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 86
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 86
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 86
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 85
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 84
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology 82
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 82
HFE p.H63D polymorphism does not influence ALS phenotype and survival 82
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases 80
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum 80
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome 79
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 79
-Electroclinical patterns and evolution of epilepsy in the 4p- syndrome 79
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype 79
On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. 78
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 78
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. 78
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 78
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 78
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome 77
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 77
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome 75
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case 75
Is MED13L-related intellectual disability a recognizable syndrome? 74
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 73
A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age 73
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 72
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. 71
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria 71
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 71
Lymph node blast crisis in chronic myeloid leukemia mimicking T-immunoblastic lymphoma. 68
"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 68
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis 67
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 66
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 66
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 65
Linguistic and psychomotor development in children with chromosome 14 deletions. 64
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 64
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 64
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 63
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 63
Burkitt lymphoma as fourth neoplasia in a patient affected by cowden syndrome with a novel PTEN germline pathogenic variant 63
Sex reversal from functional disomy of Xp: prenatal and post-mortem findings. 62
Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 61
Totale 10.261
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Categoria #
all - tutte 50.684
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 50.684
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.552 0 119 120 149 113 191 203 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
2024/2025121 86 35 0 0 0 0 0 0 0 0 0 0
Totale 12.967