IRIS
PILUSO, Giulio
 Distribuzione geografica
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Continente #
EU - Europa 5.193
NA - Nord America 3.327
AS - Asia 2.926
SA - Sud America 527
AF - Africa 43
Continente sconosciuto - Info sul continente non disponibili 9
OC - Oceania 2
Totale 12.027
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Nazione #
US - Stati Uniti d'America 3.278
RU - Federazione Russa 2.290
SG - Singapore 1.044
IE - Irlanda 915
CN - Cina 688
IT - Italia 533
HK - Hong Kong 491
BR - Brasile 428
UA - Ucraina 348
GB - Regno Unito 311
DE - Germania 272
KR - Corea 187
VN - Vietnam 173
FR - Francia 159
FI - Finlandia 106
IN - India 97
SE - Svezia 77
JP - Giappone 76
GR - Grecia 55
TR - Turchia 55
AR - Argentina 49
BD - Bangladesh 29
PL - Polonia 22
AT - Austria 21
MX - Messico 21
NL - Olanda 21
EC - Ecuador 20
BE - Belgio 19
CA - Canada 19
ID - Indonesia 17
ZA - Sudafrica 17
IQ - Iraq 12
PK - Pakistan 12
ES - Italia 11
PY - Paraguay 9
CO - Colombia 8
MA - Marocco 8
CZ - Repubblica Ceca 7
EU - Europa 7
UZ - Uzbekistan 7
SA - Arabia Saudita 6
JO - Giordania 5
CI - Costa d'Avorio 4
LT - Lituania 4
OM - Oman 4
PE - Perù 4
PH - Filippine 4
TN - Tunisia 4
AE - Emirati Arabi Uniti 3
AL - Albania 3
BA - Bosnia-Erzegovina 3
CL - Cile 3
DO - Repubblica Dominicana 3
RO - Romania 3
VE - Venezuela 3
BH - Bahrain 2
DZ - Algeria 2
EE - Estonia 2
EG - Egitto 2
HN - Honduras 2
IL - Israele 2
JM - Giamaica 2
KE - Kenya 2
LB - Libano 2
NP - Nepal 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
AM - Armenia 1
AU - Australia 1
AZ - Azerbaigian 1
BN - Brunei Darussalam 1
CH - Svizzera 1
CM - Camerun 1
DK - Danimarca 1
HU - Ungheria 1
IM - Isola di Man 1
KW - Kuwait 1
KZ - Kazakistan 1
LV - Lettonia 1
LY - Libia 1
NG - Nigeria 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PT - Portogallo 1
SR - Suriname 1
SY - Repubblica araba siriana 1
TG - Togo 1
TH - Thailandia 1
TL - Timor Orientale 1
TT - Trinidad e Tobago 1
Totale 12.027
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Città #
Dublin 914
Moscow 724
Jacksonville 529
Santa Clara 518
Hong Kong 487
Chandler 485
Singapore 442
Seoul 179
Hefei 115
Princeton 111
Caserta 97
Ashburn 93
Ann Arbor 89
Medford 86
Bremen 82
Beijing 77
Boardman 76
Roxbury 76
Bengaluru 70
Ho Chi Minh City 67
Woodbridge 63
Naples 61
Wilmington 53
Dallas 47
New York 45
The Dalles 44
Aversa 41
Cambridge 38
San Mateo 38
Los Angeles 34
Munich 32
São Paulo 27
Hanoi 26
Des Moines 24
Mountain View 22
Napoli 21
Nuremberg 21
Düsseldorf 19
Nanjing 19
Helsinki 18
Rio de Janeiro 18
Brussels 17
Guangzhou 17
Milan 17
Warsaw 17
Casoria 15
Rome 15
Shenyang 15
Auburn Hills 14
Boston 14
Vienna 13
Chicago 12
Dong Ket 12
Hangzhou 12
Tianjin 12
Amsterdam 11
Belo Horizonte 11
Haiphong 11
London 11
Norwalk 11
Changsha 10
Falkenstein 10
Jinan 10
Redwood City 10
Roubaix 9
Tokyo 9
Ariano Irpino 8
Atlanta 8
Brooklyn 8
Ercolano 8
Guayaquil 8
Houston 8
Nanchang 8
Zhengzhou 8
Falls Church 7
Genoa 7
Jakarta 7
Johannesburg 7
Lappeenranta 7
Porto Alegre 7
Toronto 7
Afragola 6
Bogotá 6
Brno 6
Da Nang 6
Haikou 6
Hebei 6
Manchester 6
Ningbo 6
Parma 6
Recife 6
Salvador 6
San Francisco 6
Shenzhen 6
Tashkent 6
Amman 5
Campinas 5
Catania 5
Chennai 5
Columbus 5
Totale 6.565
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Nome #
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders 134
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis 130
A Missense Mutation in CASK Causes FG Syndrome in an Italian Family. 128
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes 127
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. 121
Identification and characterization of a novel member of the dystrobrevin gene family 120
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene 120
A novel diagnostic method to detect truncated neurofibromin in Neurofibromatosis 1 120
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 118
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome 117
Novel mutations in LMNA A/C gene and associated phenotypes 116
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 113
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 113
Candidate-gene testing for orphan limb-girdle muscular dystrophies 110
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 110
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein 109
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity 109
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements 109
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function 108
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy 108
Double carrier status in CANP3 and beta-sarcoglycan genes results in a mild disease phenotype 108
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype 108
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells 107
G.O.7 Multiple genetic variations in limb-girdle muscular dystrophies 107
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report 107
Identification of the Syrian hamster cardiomyopathy gene 106
Dystrophin gene scanning by DHPLC of DMD carriers without deletions or duplications 106
Multiple spinal nerve enlargement and SOS1 mutation: further evidence of overlap between Neurofibromatosis type 1 and Noonan phenotype 106
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects 106
O.17 Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches 105
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism 104
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation 103
Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa–Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature. 102
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. 102
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell 102
Aspetti clinici, genetici ed epidemiologici delleDistrofie muscolari dei Cingoli nel Sud Italia 102
Multiple heterozygosity for different muscle genes is not rare among individuals with pauci-symptomatic hyperCKemia 102
Identification of a DNA binding protein cooperating with estrogen receptor as RIZ (retinoblastoma interacting zinc finger protein) 101
Gene redundancies in the dystrophin-associated protein complex 101
P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients 101
Seizures in children with neurofibromatosis type 1: Is neurofibromatosis type 1 enough? 100
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort 99
Analysis of caveolin-3 (CAV-3) gene in patients with limb-girdle muscular dystrophies and/or isolated hyperCKemia 99
Enhancer chip: detecting human copy number variations in regulatory elements. 99
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 98
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review 97
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy 96
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically 96
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations 95
Le Distrofie dei Cingoli autosomiche recessive: calpainopatie e disferlinopatie 94
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing 94
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease 94
Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies. 94
P.P.6 02 Cardiac and respiratory involvement in autosomal recessive limb-girdle muscular dystrophies 94
The fourth component of the sarcoglycan complex 93
INTERACTION OF ESTROGEN RECEPTOR α WITH THE RETINOBLASTOMA-INTERACTING-ZING-FINGER GENE PRODUCT RIZ 93
Studio retrospettivo sulle complicanze emato-oncologiche nella neurofibromatosi tipo 1 in età pediatrica 93
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement 92
Molecular and Muscle Pathology in a series of Caveolinopathy patients 91
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers 90
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene 90
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1) 90
Essential Quality Analysis Criteria in Forensic Genetics Identification: A Position Statement of Italian Society of Human Genetics 89
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature. 89
Are SHROOM4 loss-of-function variants pathogenic? 88
Heart involvement in Emery-Dreifuss muscular dystrophies: new parameters to detect early atrial fibrosis and vulnerability 88
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results 88
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience 87
P3.14 New AAVs for the muscle gene therapy in sarcoglycan deficient animals 87
T.O. 6 Systemic delta-sarcoglycan gene transfer into cardiomyopathic BIO14.6 hamsters by AAV 85
G.P.4.03 Mutations in the lamin A/C gene: An emergent cause of fatal arrhythmias in congenital muscular dystrophies 85
Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome. 85
La neurofibromatosi di Tipo 1 in età pediatrica 84
The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action 84
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome 83
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 83
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results 83
An interconnected data infrastructure to support large-scale rare disease research 81
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 81
Le Distrofie muscolari dei Cingoli autosomiche recessive in Sud Italia: Aspetti clinici, genetici ed epidemiologici 81
G.P.10.11 T-CAP, the gene responsible for LGMD2G, may interact with dysferlin 81
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients 81
An atypical Aymé-Gripp phenotype detected by exome sequencing 80
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 80
Motor Chip: a Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders 79
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A 78
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia 77
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients 77
Le conseil genetique dans les dystrophies musculaires: resultats de 10 ans d'approche moleculaire 77
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F 77
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 76
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 76
One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography. 76
Identification and analysis of candidate genes for Limb-Girdle Muscular Dystrophies 76
Familial Trisomy 6p in Mother and Daughter 76
Dilated cardiomyopathy caused by mutations in Calpain-3 gene 75
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio) 75
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions 75
Use of a lower dosage liver-Detargeted AAV vector to prevent hamster muscular dystrophy. 74
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? 73
Totale 9.577
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Categoria #
all - tutte 46.622
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 46.622
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021427 0 0 0 0 0 8 104 87 20 95 76 37
2021/2022755 47 7 11 16 233 15 26 21 22 84 64 209
2022/20231.789 134 65 21 158 196 129 14 102 875 19 34 42
2023/2024607 53 26 39 50 205 35 19 11 4 8 59 98
2024/20252.270 7 21 27 43 400 327 355 178 279 244 211 178
2025/20264.681 420 537 479 435 889 1.921 0 0 0 0 0 0
Totale 12.366