IRIS UniCatt

Marangi, Giuseppe
 Distribuzione geografica
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Continente #
NA - Nord America 5.042
EU - Europa 4.092
AS - Asia 3.403
SA - Sud America 599
AF - Africa 101
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 5
Totale 13.253
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Nazione #
US - Stati Uniti d'America 4.904
SG - Singapore 1.552
DE - Germania 1.379
CN - Cina 820
SE - Svezia 616
IT - Italia 597
BR - Brasile 487
VN - Vietnam 337
UA - Ucraina 311
FR - Francia 301
GB - Regno Unito 179
IE - Irlanda 151
FI - Finlandia 140
PL - Polonia 113
IN - India 107
ID - Indonesia 98
JP - Giappone 84
RU - Federazione Russa 82
HK - Hong Kong 73
CA - Canada 67
TR - Turchia 63
BD - Bangladesh 54
NL - Olanda 51
BE - Belgio 42
MX - Messico 42
AR - Argentina 38
IQ - Iraq 31
ZA - Sudafrica 30
PK - Pakistan 29
AT - Austria 24
ES - Italia 22
CI - Costa d'Avorio 21
SA - Arabia Saudita 21
KR - Corea 20
AE - Emirati Arabi Uniti 15
CO - Colombia 15
CH - Svizzera 14
PT - Portogallo 14
CL - Cile 13
UZ - Uzbekistan 13
MA - Marocco 11
VE - Venezuela 11
EC - Ecuador 10
JO - Giordania 10
RO - Romania 10
IL - Israele 9
PY - Paraguay 9
TN - Tunisia 9
AU - Australia 8
GR - Grecia 8
IR - Iran 8
KE - Kenya 8
KZ - Kazakistan 8
UY - Uruguay 8
NP - Nepal 7
TH - Thailandia 7
AZ - Azerbaigian 6
PE - Perù 6
DK - Danimarca 5
DZ - Algeria 5
LT - Lituania 5
NO - Norvegia 5
PH - Filippine 5
AL - Albania 4
CZ - Repubblica Ceca 4
EG - Egitto 4
HN - Honduras 4
JM - Giamaica 4
TT - Trinidad e Tobago 4
A2 - ???statistics.table.value.countryCode.A2??? 3
BB - Barbados 3
CR - Costa Rica 3
DO - Repubblica Dominicana 3
KG - Kirghizistan 3
LB - Libano 3
MM - Myanmar 3
MT - Malta 3
SN - Senegal 3
TW - Taiwan 3
AM - Armenia 2
BY - Bielorussia 2
BZ - Belize 2
CY - Cipro 2
ET - Etiopia 2
HU - Ungheria 2
LV - Lettonia 2
MN - Mongolia 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
OM - Oman 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CG - Congo 1
EU - Europa 1
GA - Gabon 1
GI - Gibilterra 1
GM - Gambi 1
Totale 13.234
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Città #
Singapore 866
Chandler 641
Ashburn 613
San Jose 434
New York 176
Ann Arbor 155
Beijing 145
Dublin 145
Jacksonville 140
San Mateo 131
Los Angeles 113
Ho Chi Minh City 102
Nürnberg 102
Woodbridge 99
Nanjing 98
Rome 97
Houston 94
Warsaw 94
Wilmington 93
Hanoi 92
Milan 92
Jakarta 91
Redmond 91
Cattolica 90
Lauterbourg 90
Frankfurt am Main 77
Boston 76
Tokyo 68
Fairfield 64
Dearborn 63
Seattle 63
São Paulo 63
Hefei 62
Munich 59
Helsinki 55
Hong Kong 53
Moscow 51
Nanchang 48
Lawrence 46
Redwood City 43
Santa Clara 42
Marseille 39
Detroit 31
Hangzhou 31
The Dalles 31
Chicago 30
Izmir 29
Princeton 29
Buffalo 27
Nuremberg 27
Bremen 25
Denver 25
North Bergen 25
Shenyang 25
Lappeenranta 24
London 24
Brussels 23
Changsha 22
Council Bluffs 22
Dallas 22
Mountain View 22
Stockholm 22
Abidjan 21
Orem 21
Tianjin 21
Boardman 20
Guangzhou 20
Norwalk 20
Atlanta 19
Brooklyn 18
Kent 18
Seoul 18
Cambridge 17
Chennai 17
Fremont 17
Paris 17
Phoenix 17
Poplar 17
Johannesburg 16
Kunming 16
University Park 16
Waanrode 16
Mexico City 15
Shanghai 15
Montreal 14
Pune 13
Da Nang 12
Haiphong 12
Rio de Janeiro 12
San Francisco 12
Toronto 12
Zhengzhou 12
Baghdad 11
Brasília 11
Ottawa 11
Tashkent 11
Vienna 11
Amman 10
Auburn Hills 10
Belo Horizonte 10
Totale 6.948
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Nome #
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 382
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 314
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 246
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 239
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 213
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 212
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study 204
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome 198
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 197
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome 191
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS 191
How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons 187
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 186
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation 185
Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS 183
Matrin 3 variants are frequent in Italian ALS patients 182
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder 181
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies. 178
A Genome-wide Association Study of Myasthenia Gravis 176
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis. 166
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. 166
New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis 165
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 164
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 164
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 162
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
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 159
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis 159
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes 158
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 157
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 157
A novel L67P SOD1 mutation in an Italian ALS patient. 155
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus 154
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 154
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 154
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 152
Origin of celiac disease: How old are predisposing haplotypes? 152
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis 150
Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation 150
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant 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
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 148
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories 146
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 146
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 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
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis 139
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
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
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
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 127
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 127
HFE p.H63D polymorphism does not influence ALS phenotype and survival 126
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype 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 125
"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 125
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 124
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 124
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
Is MED13L-related intellectual disability a recognizable syndrome? 120
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome 118
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients 114
Genetic counselling in ALS: facts, uncertainties and clinical suggestions 112
Syndromic craniosynostosis can define new candidate genes for suture development or result from the non-specifc effects of pleiotropic genes: Rasopathies and chromatinopathies as examples 111
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 107
Exploring the Role of CCNF Variants in Italian ALS Patients 105
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge 104
Analysis of STMN2 CA repeats in italian ALS patients shows no association 102
A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis 102
SYT1-associated neurodevelopmental disorder: A case series 92
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. 88
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis 87
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 86
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant 86
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. 85
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 85
Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges 80
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay 78
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations 73
Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges 71
Utility and Challenges of Next Generation Sequencing in Pediatric Disorders 59
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy 55
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease 49
The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure 41
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data 22
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study 21
Totale 13.426
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Categoria #
all - tutte 51.113
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 51.113
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021160 0 0 0 0 0 0 0 0 0 49 99 12
2021/2022841 83 103 21 97 21 18 14 123 45 44 111 161
2022/20231.715 221 268 142 269 91 213 77 129 172 45 54 34
2023/2024994 42 233 36 62 42 210 64 45 13 43 93 111
2024/20251.694 41 55 118 72 151 73 60 71 248 150 363 292
2025/20264.548 632 126 219 552 933 293 925 235 316 317 0 0
Totale 13.426